Clinical Medicine and Surgery I · Exam 5 — Study Guide

1 · Venous Disorders

Lecture 26 · Chand Shah, MPAS, PA-C · Tuesday 29 September 2026

Where each objective is answered

1.1 · Overview: deep veins, superficial veins and valves

The slide 46 picture separates the deep veins (iliac, femoral, popliteal and tibial) from the superficial veins (the greater and lesser saphenous veins). Vein valves keep blood moving in one direction; in a diseased valve blood moves in both directions and venous pressure rises (slide 4 picture).

Chronic venous disease is the umbrella for varicose veins and chronic venous insufficiency (slide 3). It ranges from telangiectasias to varicose veins to chronic venous insufficiency. Its cause is elevated venous pressure (venous hypertension), which comes from four things: inadequate calf muscle pump function, incompetent venous valves (leading to reflux), venous thrombosis and other, non-thrombotic venous obstruction (slide 5). Venous hypertension triggers a sequence of changes: venous dilation, then skin changes and/or skin ulceration.

Not in the deck: palliative care for venous disorders, a treatment for septic thrombophlebitis, and any content for infants, children or adolescents. The rehabilitative element of the management objective is the walking, ankle-flexion and calf-strengthening exercise in 1.5.

1.2 · Deep vein thrombosis

Definition and epidemiology

Deep vein thrombosis (DVT) is clot formation in the deep veins, usually in the legs Slide 46.

• Lower extremity deep vein thrombosis is about 10 times more common than upper extremity. It usually begins in the calf and moves proximally to the popliteal, femoral and iliac veins Slide 47.
• Most common proximal veins: the femoral and popliteal veins in the thigh. Most common distal veins: the peroneal veins in the calf. In pregnancy: the pelvic veins Slide 48.
• Upper extremity deep vein thrombosis is only 5–10% of all (incidence rising every year) and is most commonly due to pacemakers, implantable cardiac defibrillators or indwelling central venous catheters Slide 47.
• Pulmonary embolism complicates up to 6% of upper extremity deep vein thromboses versus 15–30% of lower extremity ones Slide 47. (The deck also gives about 50% of patients with deep vein thrombosis having a silent pulmonary embolism and about 30% of patients with pulmonary embolism having a deep vein thrombosis, slide 48; see the box above.)

Risk factors: the Virchow triad

Other risk factors

The list that sits outside the triad Slide 50. She stressed asking about every one, especially personal and family history.

• Personal or family history of deep vein thrombosis or pulmonary embolism — the deck gives a prior episode as about 30 times higher risk of a recurrence. Ask how many clots, how long ago, who in the family and at what age.
• Age older than 60; overweight or obesity; slightly higher risk in males.
• Smoking, heart failure, systemic arterial hypertension, chronic kidney disease, chronic obstructive pulmonary disease, inflammatory bowel disease (Crohn disease, ulcerative colitis).
• Cancer and chemotherapy.
• Air travel and a sedentary lifestyle.
• Hormones: estrogen-containing contraceptives, postmenopausal hormone replacement, and the first 6–12 weeks postpartum.

Presentation

• Upper extremity: often only limb swelling and arm discomfort Slide 51.
• Lower extremity: suspect it in a patient with leg swelling (97% sensitive), pain (86% sensitive) and warmth (72% sensitive), with or without erythema.
• A cramp or “charley horse” in the lower calf that persists and worsens over the next few days — if the patient describes a muscle cramp that does not settle, keep asking.
• Symptoms stay in the calf with an isolated distal clot; with a proximal clot they may involve the calf or the whole leg.
• Homan sign (calf pain on dorsiflexion of the foot) may be present but is neither sensitive nor specific.

Differential diagnosis

Wells criteria and the work-up

• D-dimer is sensitive but not specific. A raised D-dimer implies increased fibrinolysis somewhere in the body, not necessarily a clot in the leg, so it is useful as a rule-out test for deep vein thrombosis and pulmonary embolism and only in patients whose Wells score is low or moderate. She warned against ordering it reflexively: know what you will do next with either result Slide 57.
• Contrast ascending venography is the “gold standard” and is definitive, but it is invasive and has been replaced by venous duplex ultrasound of the involved extremity Slide 57. Say why you are ordering the ultrasound on the request.
• The deck’s electrocardiogram slide (sinus tachycardia and the S1Q3T3 pattern) belongs to pulmonary embolism and is left for the electrocardiogram lecture.

Treatment

Anticoagulation is the mainstay of treatment — in her words, “the biggest thing that we need to know.” Depending on the situation, patients may also need thrombolysis (a procedure that breaks down the clot) and/or lifelong anticoagulation Slide 61.

Three major strategies Slide 61:

1. The classical approach, which the deck calls “waning”: heparin, then bridging to warfarin.
2. Parenteral therapy, switched after 5 days to a newer oral anticoagulant: dabigatran (a direct thrombin inhibitor) or edoxaban (an anti-factor Xa agent).
3. Oral monotherapy with a loading dose followed by a maintenance dose: rivaroxaban or apixaban (both anti-factor Xa agents).

Contraindications to anticoagulation: active bleeding, acute intracranial hemorrhage, major trauma and severe bleeding disorders — do not give a drug that makes a bleeding patient bleed more.

How long to treat. The initial duration for the first episode of venous thromboembolism (VTE, meaning deep vein thrombosis or pulmonary embolism) is a minimum of 3 months for every patient Slide 63. Three categories then set the duration Slide 64:

Her reasoning: with an unprovoked clot no source has been found, so an undiscovered clotting condition cannot be excluded; with a major reversible cause you know what it was and it is over.

Who can be treated as an outpatient Slide 65:

• Outpatient options Slide 66: rivaroxaban; apixaban; low molecular weight heparin (enoxaparin) or fondaparinux for 5 days and then dabigatran or edoxaban; or low molecular weight heparin or fondaparinux for 5 days overlapping with warfarin until the international normalized ratio is above 2. The choice rests on clinician experience, bleeding risk, comorbidities, patient preference, cost and convenience.
• Chronic renal disease with creatinine clearance below 30 mL/min: the patient is hospitalized to start treatment. Unfractionated heparin is given with warfarin, overlapping for at least 5 days and until the international normalized ratio is above 2 for at least 24 hours Slide 67. Monitor the laboratory values (activated partial thromboplastin time, international normalized ratio) closely at the start.

Bleeding is the most serious adverse effect. For life-threatening or intracranial hemorrhage, each anticoagulant has its own reversal agent Slide 68:

• Inferior vena cava filter: only if the patient has an acute proximal deep vein thrombosis of the lower extremity and active bleeding, or anticoagulation is otherwise contraindicated; it keeps the clot from traveling to the lungs Slide 69.
• Thrombolysis (tissue plasminogen activator) and thrombectomy are reserved for selected large clots Slide 70 (see the box above).

Prevention

Intermittent pneumatic compression (sequential compression devices), used especially when the patient must be immobilized after surgery or during a long hospital stay Slide 71. The picture shows compression cycling up the leg (first, second, third compression). She tied it to the triad: the device does the job of the calf muscles, so blood does not stagnate — it treats the stasis arm.

Complications and prognosis

• Pulmonary embolism — part of the thrombus breaks off and travels to the lungs Slide 72. She called it the biggest complication and stressed asking every deep vein thrombosis patient about breathing difficulty right away rather than waiting to see if shortness of breath develops.
• Post-thrombotic syndrome — symptomatic chronic venous insufficiency 6 to 24 months after the clot Slide 52 (1.5).
• Recurrence — a prior deep vein thrombosis or pulmonary embolism carries about 30 times the risk of another (slide 50).
• Hemorrhage from treatment (above).
• Prognosis, without adequate treatment Slide 60: the cumulative rate of fatal pulmonary embolism is under 1% in symptomatic deep vein thrombosis without pulmonary embolism, about 3% with symptomatic non-massive pulmonary embolism, and about 9% with symptomatic massive pulmonary embolism (see the box above).

1.3 · Superficial phlebitis and thrombophlebitis (including septic)

Superficial phlebitis is inflammation of the wall of a vein in the absence of thrombus. Superficial thrombophlebitis is phlebitis with thrombus Slide 74. The two are told apart because the treatment differs.

Risk factors

• Varicose veins — the most common cause of lower extremity superficial thrombophlebitis Slide 75.
• Recent intravenous catheter use (a peripherally inserted central catheter, or PICC line, is the most common) — the most common cause of upper extremity superficial thrombophlebitis.
• Sedentary lifestyle or prolonged inactivity (for example, bedridden); local trauma, including a procedure on superficial veins.
• Pregnancy or estrogen therapy; malignancy or a hypercoagulable state.
• A history of venous thrombosis of the lower extremity superficial veins in the absence of varicose veins.

Presentation

• Tenderness, pain, induration and erythema along the course of a superficial vein — you can trace the vein; an indurated palpable cord (like a firm cord under the skin) with erythema and warmth of the overlying skin Slide 76.
• Septic (suppurative) thrombophlebitis is infection within the vein. Suspect it with high fever, fluctuance and/or purulent drainage, or when the erythema extends significantly beyond the margin of the vein. It is uncommon without a history of venous cannulation (venipuncture, catheterization), so ask about a recent intravenous line.

Diagnosis

History and physical examination, confirmed by venous duplex ultrasound (the gold standard), which shows a noncompressible superficial vein with thickening of the vein wall Slide 77. Wall thickening alone is phlebitis; thickening with a clot inside is thrombophlebitis.

Management and prognosis

• Nonsteroidal anti-inflammatory drugs (NSAIDs) first. Typical treatment is warm compresses, compression and elevation of the affected extremity, and NSAIDs (for example ibuprofen, diclofenac) for pain and inflammation Slide 79.
• Anticoagulation only for extensive clot burden or intermediate or higher risk of thrombosis: unfractionated heparin, enoxaparin or fondaparinux. Her worked case was a woman with a red, painful, swollen arm and varicose veins: the answer was NSAIDs, not heparin. “You only start anticoagulation if there is some really big concern.”
• Repeat the physical examination within 7 to 10 days to see resolution versus progression; if the signs persist or worsen, repeat the duplex ultrasound Slide 80.
• Prognosis: it rarely causes serious complications and rarely embolizes Slide 78. Counseling matters: patients worry that it is a clot.
• Septic thrombophlebitis: the deck gives no treatment; the point to take from it is to recognize the infection signs above. She warned that a missed infection can leave the patient septic.

1.4 · Arteriovenous fistula of the extremity

An arteriovenous fistula is an abnormal connection between an artery and a vein that bypasses the capillary bed; it can exist almost anywhere in the body, depending on the cause Slide 82. The lecture splits the objective into created and acquired fistulas (and a congenital form).

Created (for hemodialysis)

• Upper extremity fistulas are the ones most commonly created for hemodialysis vascular access; the upper arm or forearm are common sites and are preferred over the lower extremity Slides 82–83.
• A healthy fistula has a diffuse thrill and a soft bruit — both with systolic and diastolic components (feel the thrill, listen for the bruit) — and it collapses completely when the arm is elevated. If you cannot hear a bruit, refer.

Acquired (trauma, iatrogenic)

The objective names trauma; the deck teaches only the iatrogenic (procedure) example.

• Lower extremity fistulas are most commonly iatrogenic, from groin access (the femoral vessels) for percutaneous arterial and venous procedures such as cardiac catheterization. They are most common in the lower extremity and affect the femoral vessels Slide 84.
• After the procedure, evaluate the puncture site with a complete lower extremity vascular examination — check the pulses against the pre-procedure pulses to be sure nothing changed. Duplex ultrasound confirms the diagnosis in patients with a suspected iatrogenic fistula.

Diagnosis, complications and management

• Diagnosis is by physical examination; computed tomography angiography and angiography confirm it and give the location and size Slide 85.
• Nicoladoni-Branham sign: compressing a large fistula makes the heart rate slow (a reflex). Do not hold the fistula closed to demonstrate it on a patient.
• Watch for infection, chronic venous insufficiency, heart failure and evidence of ischemia. A fistula is one of the causes of chronic venous insufficiency (slide 11).
• Congenital fistula: difficult to treat because the communications can be numerous; treated conservatively with elastic support hose, and sometimes embolization can remove it Slide 86.
• Acquired fistula: surgical management — removing the fistula or decreasing its size. In primary care the task is to keep it free of infection, decide whether it is congenital or acquired, find out how it was acquired, and refer appropriately.

1.5 · Chronic venous insufficiency

Chronic venous insufficiency (also called post-thrombotic syndrome) is the severe manifestation of venous hypertension Slides 3, 11. It is what “signs of advanced venous disease” mean: edema, skin changes (hyperpigmentation, dermatitis, lipodermatosclerosis) and venous ulceration, from superficial and/or deep venous reflux and/or obstruction Slide 9.

Classification and causes

• Prior deep vein thrombosis is the most common cause (the slide says “one of the most common”); about 25% of these patients have no known history of a clot, but there may be a history of leg trauma or surgery Slide 11. So ask “have you had a clot before?” and about leg surgery.
• Another common cause: progressive superficial venous reflux. Other causes: congenital or neoplastic obstruction of the pelvic veins, and a congenital or acquired arteriovenous fistula.
• Pathophysiology Slides 12–13: the valve leaflets are thickened and scarred (post-thrombotic syndrome) or sit in a dilated vein, so they are incompetent; chronic thrombus or scarring may add proximal obstruction. Blood cannot be stopped from returning to the foot, so venous hypertension raises the force on the subcutaneous veins and tissues of the lower leg and causes edema. Superficial veins expand and their valves stop closing; the deep system becomes incompetent because of them; and the superficial veins cannot empty into the deep system during walking.
• Risk factors (chronic venous disease) Slide 8: advancing age; female sex; family history of venous disease; certain hereditary conditions; ligamentous laxity (for example, flat feet); increased body mass index; smoking; lower extremity trauma; prior venous thrombosis; higher parity; high estrogen states.

Presentation

• Symptomatic or asymptomatic (early disease is often asymptomatic) Slide 6. Symptoms: pruritus of the skin of the lower extremities, often starting around the medial malleolus; leg heaviness, aching, pain, throbbing, hyperesthesia or burning, and swelling — worse when standing or with prolonged sitting with the feet dependent, relieved by limb elevation and walking.
• Progressive pitting edema of the leg (usually the lower leg) is the primary presenting symptom, usually with dull discomfort worsened by standing Slide 14. Grade the pitting and document it so you can follow it over time.
• Signs Slide 7: a spectrum of telangiectasias, reticular veins, uncomplicated varicose veins, or chronic venous insufficiency itself (chronic severe edema, skin changes, venous ulceration).

Skin and ulcer findings

• Stasis dermatitis (venous stasis dermatitis): pruritic dermatitis, an eczematous rash with erythema, scaling, weeping, erosions and crusting (slide 21 note). The earliest sign is erythema, scaling and slight hyperpigmentation just above the medial malleolus (slide 21 picture).
• Hemosiderin staining: brown or blue-gray discoloration from hemosiderin deposits Slides 7, 14 — it helps separate a venous cause from an arterial one. The skin of the ankle is shiny and taut from swelling.
• Lipodermatosclerosis (skin and fat tissue scarring of the lower legs; long-term disease) Slides 9, 14, 23: firm, indurated areas, the skin tacked down to the subcutaneous tissue, commonly at the medial ankle, and it can form a constrictive band around the limb.
• Venous ulcer Slide 15: usually above the ankle on the medial or anterior aspect; painful; a clean base with fibrinous exudate and possibly serous drainage (clear or light yellow, see-through). It heals with a thin scar that breaks down easily with minor trauma or increased edema. The slide 26 picture shows a large shallow ulcer on the medial ankle with irregular borders and a granulation tissue base.
• Cellulitis with venous insufficiency is blanching erythema, with or without pain, and is difficult to diagnose, so history matters (has it changed?). To follow progression, draw around the edge with a marker and date it.

What the slide pictures show (photographs not reproduced here): telangiectasias are dilated intradermal venules under 1 mm (spider veins); reticular veins are dilated bluish subdermal veins of 1 to 3 mm; varicose veins are subcutaneous dilated veins of 3 mm or more; the advanced photographs show pigment change on both sides of the ankle with a healed ulcer, a small clean active ulcer, and a leg with massive pitting edema and red skin suggesting cellulitis Slides 16–25.

Differential diagnosis

A punch biopsy can help rule out other causes when unsure. Venous ulcers sit on the medial ankle and are shallow with a clean base; arterial ulcers are dry, punched out and painful at the toes and lateral ankle (see 2.2).

Work-up

• History and physical examination often identify chronic venous insufficiency as the likely source of the skin changes or ulcer, but they are not enough to establish a venous cause or reliably rule out other causes of a leg ulcer Slide 28.
• Venous duplex ultrasound is needed to assess venous patency (is there a deep vein thrombosis?) and valvular competence (is there reflux?). It is the first test to confirm the diagnosis, determine the cause, rule out a clot, and define the level and anatomy of disease Slide 29.
• Cross-sectional venography (computed tomography or magnetic resonance) evaluates deep veins that ultrasound cannot see well, but is not the first step. Catheter-based venography is the gold standard but is rarely needed for diagnosis; it is done before an invasive intervention.
• Arterial pulse examination and an ankle-brachial index (ABI) for any patient with a lower extremity wound and for older patients. The ABI is not ordered to diagnose the venous disease: it is to make sure there is no peripheral artery disease before you treat with compression, because compression in an arterial patient cuts off their supply (slides 28 and 32 notes).

Management

Initial management is nonoperative, always: skin care, leg elevation, exercise and compression therapy Slide 30.

• Leg elevation: the feet must be elevated ABOVE heart level — this improves cutaneous microcirculation and reduces edema Slide 31. Legs resting a little higher than the hips do nothing; ask the patient to show you their “elevation” and explain why it matters.
• Exercise increases calf muscle strength: daily walking and ankle flexion; avoid long periods of sitting and standing.
• Skin care: gentle cleansing and emollients to maintain the skin barrier, prevent dryness and fissuring, and reduce scratching (barrier preparations such as petrolatum or zinc oxide creams). For stasis dermatitis with erythema, inflammation, itching or vesicles, mid-potency topical corticosteroids (triamcinolone, fluocinolone, betamethasone) may be needed Slide 34.
• Compression therapy (hosiery or bandages) is the standard treatment: it improves oxygen transport to the skin and subcutaneous tissues, decreases edema, reduces inflammation and compresses dilated veins Slide 32. Stockings must be graduated: the pressure is greatest at the ankle and less up the leg Slide 33; that gives faster blood flow, prevents venous pooling and lowers the chance of a clot. Peripheral artery disease must be ruled out before compression is started. Some patients cannot tolerate it, so explain why they are wearing it.
• Cellulitis: oral antibiotics (cephalexin or clindamycin) Slide 35.
• Ulcer care: ulcers will not heal unless edema is controlled and compression is applied. Refer to wound care; complete healing can take 4–6 months, and an ulcer that has not fully healed needs further work-up for underlying infection or other causes.
• Drugs: no oral medication has been proven useful for venous disease. Flavonoids are used to increase venous tone; aspirin may accelerate venous ulcer healing.
• Surgery Slide 36: the goal is to occlude or remove the affected vessels, restore blood flow and decrease venous hypertension. Valvuloplasty is occasionally successful, but the incidence of postoperative deep vein thrombosis is high; venous bypass is successful in select patients.
• Prognosis: the deck gives no formal prognosis. Edema recurs if compression socks are not worn consistently (slide 37), and the thin scar of a healed ulcer breaks down easily (slide 15).

Referral

Refer to a vascular specialist for Slide 37:

• Arterial insufficiency — she said this is an as-soon-as-possible, same-day referral.
• Nonhealing ulcers; ulcer recurrence (the same place again and again); persistent stasis dermatitis; suspected contact dermatitis.
• Diagnostic uncertainty — if you are not sure of the diagnosis, consult someone.
• Significant saphenous reflux; and to control edema long-term, so ulcers do not recur.

1.6 · Varicose veins

Varicose veins result from a combination of venous reflux and venous hypertension. Superficial veins are commonly involved, usually the great saphenous vein (most commonly) and the short saphenous vein Slide 38.

• Risk factors Slide 39: periods of high venous pressure from prolonged standing or heavy lifting (think of occupation); women after pregnancy; and family history — the most common predisposing factor. If it is positive, ask who, and at what age it started.
• Presentation Slide 40: asymptomatic or symptomatic. If symptomatic, a dull, achy heaviness or feeling of fatigue brought on by periods of standing is the most common symptom. Itching may occur above the ankle or over the varicose veins. Dilated, tortuous veins of the thigh and calf are visible and palpable when the patient is standing, and may be tender. Long-standing varicose veins can progress to chronic venous insufficiency.
• Diagnosis Slide 41: clinical — examine the leg in a dependent position. Venous duplex (Doppler) ultrasound confirms the diagnosis and classifies the anatomic location and extent of reflux.
• Management, isolated varicose veins (no edema, skin changes or ulcer) Slides 42–43: conservative, identical to chronic venous insufficiency care — leg elevation, exercise, compression therapy, remembering to rule out arterial disease before starting compression. A trial of stockings is usually continued for weeks to months before ablation is offered. The goal is to improve symptoms and appearance; varicose veins often recur.
• Procedures Slide 44: sclerotherapy (injecting a sclerosing agent to fibrose and obliterate the veins); surgical reflux treatment — vein stripping, or a laser or radiofrequency catheter.

1.7 · The conditions, point by point

1.8 · Populations

2 · Arterial Occlusive Disease & Aortic Aneurysm

Lecture 27 · Grady G. Carter, PA-C, EMT-P (guest lecturer) · Zoom, Thursday 1 October 2026

Where each objective is answered

2.1 · Background: the arterial wall and atherosclerosis audio after 10/01

The arterial wall has three layers: the tunica intima (innermost, lined with endothelial cells on a matrix of collagen and elastic fibers), the tunica media (muscular middle layer of connective tissue and smooth muscle) and the tunica adventitia (fibrous outer layer).

Arteriosclerosis is the generic term for “hardening of the arteries”, covering three processes: arteriolar sclerosis, medial calcific sclerosis (Mönckeberg sclerosis) and atherosclerosis — the most dominant type, which leads to the major causes of death in the United States. Athero (gruel or paste) is the fatty core of the plaque; sclerosis (hardness) is the stiffening from fibrous tissue that forms over it. It affects intermediate and large arteries: coronary, cerebral, carotid, femoral and the aorta.

• Lesions form at arterial bifurcations and sites of increased turbulence, and develop over many decades.
• Plaque can cause stenosis (narrowing or occlusion); thrombus can form at the plaque; atheroemboli can break off it. Those three outcomes are the three ways this whole lecture’s diseases begin.

2.2 · Peripheral artery disease (and critical limb ischemia) audio after 10/01

Peripheral arterial disease (also called peripheral arterial occlusive disease) is a lack of blood flow to muscle relative to its metabolism, producing pain in the affected muscle groups. The pathophysiology is similar to coronary artery disease, and 50% of patients with it also have coronary artery disease. The chain: less flow to the extremity → less tissue perfusion → less oxygen and nutrient to muscle → tissue damage and pain. Severity depends on the degree of narrowing, the number of arteries involved and the patient’s activity level. Lower-extremity disease sits at three segments: aortoiliac, femoral-popliteal and tibial.

Risk factors

• Age: older than 60 with no other risk factors, or 50 with risk factors (smoking, diabetes, hypertension, hyperlipidemia, sedentary lifestyle, obesity).
• Males > females; family history of peripheral arterial disease, cardiovascular disease or stroke.
• Cigarette smoking — three times the risk of nonsmokers; diabetes mellitus; dyslipidemia; hypertension; obesity.
• Elevated homocysteine — an amino acid associated with earlier-onset atherosclerosis.

Claudication: the site of the pain names the level of the block

Intermittent claudication (Latin claudicare, to limp) is pain in one or more lower-extremity muscle groups brought on by activity and relieved by rest, usually within about 10 minutes — an ache, cramp, numbness or fatigue, analogous to angina in the heart. Its severity depends on the degree of stenosis, the collateral circulation and the vigor of exercise. Many patients with risk factors report few or no symptoms, so ask about functional capacity and decline in activity over time.

Critical limb ischemia: rest pain, ulcers, gangrene

Ischemic rest pain is constant — throbbing, burning or severe shooting — with cool feet, localized to the forefoot and toes, worse on elevation or reclining (gravity no longer helps arterial flow) and not controlled by analgesics, even narcotics. It wakes the patient at night; some sleep in a recliner. The paradox: it is relieved by hanging the leg over the edge of the bed or by walking around, because dependency uses gravity to perfuse the limb — the opposite of claudication, which walking causes.

• Ischemic ulcers: painful, often begin as minor trauma, fail to heal because the blood supply cannot meet the demands of healing tissue. Found at the ends of arterial branches (tips of the toes, between the digits) and at pressure points (metatarsal heads). Dry, punched out, painful, minimal bleeding, often ringed by black necrotic tissue. Can lead to osteomyelitis.
• Dry gangrene: hard and dry, usually the distal toes, with a clear demarcation between healthy and necrotic tissue — common in peripheral arterial disease.
• Wet gangrene = surgical emergency: moist, edematous, blistering, with bacterial infection and a risk of sepsis — often spore-forming Clostridium species that release toxins and gas (gas gangrene).

Physical examination

• Best supine, after the patient has warmed up and rested 15 minutes; in advanced ischemia, time spent supine can bring on pain.
• Vital signs: blood pressure in both arms — the higher reading is used for the ankle-brachial index. Fever suggests an infected wound or ulcer; tachycardia and tachypnea suggest infection.
• Skin: xanthelasma; a midline sternotomy scar (prior coronary bypass).
• Inspection of the legs (depends on duration and severity): dry, thin, brittle, shiny skin when flow is severely reduced; poor wound healing; loss of hair and toenails; brittle nails; muscle atrophy.
• Temperature (back of the hand) is the marker for perfusion: the ischemic limb is cool, and the line where the temperature changes gives a rough indication of the level of occlusion.
• Pulses (brachial, radial, aorta, femoral, popliteal, dorsalis pedis, posterior tibial) are diminished or absent below the stenosis. If a pulse is hard to feel, use a handheld Doppler. Capillary refill longer than 2 seconds. Assess sensory and motor function.
• The six P’s of arterial assessment: pain, pallor, pulselessness, paresthesia, paralysis, poikilothermia (difficulty regulating temperature).
• Bruits over the abdominal aorta and the iliac, femoral and popliteal arteries.
• Reactive hyperemia is the transient rise in blood flow after a brief ischemic period: metabolites (carbon dioxide, lactic acid, adenosine) accumulate and cause vasodilation. Dependent rubor is the reddish color the skin takes when the leg hangs down.

Differential diagnosis of leg pain

Diagnostic testing

ABI (ankle-brachial index) — a simple bedside test and the important initial test. Each leg’s index is its higher ankle pressure (posterior tibial or dorsalis pedis) divided by the higher arm pressure; the lower of the two legs is the patient’s overall index.

• Pulse volume recordings (plethysmography), done in a vascular laboratory: pneumatic cuffs sense segmental volume changes with each pulse and locate the site and severity of disease (slide 45, a picture-only slide).
• Duplex ultrasound: noninvasive, shows flow status, no contrast and no radiation — the mainstay and initial imaging when stenosis or obstruction is suspected.
• Computed tomography angiography delineates the anatomy with contrast; contraindicated with contrast allergy or decreased renal function. Magnetic resonance angiography is the alternative with a contrast allergy; contraindicated with pacemakers and intracranial aneurysm clips.
• Conventional angiography is the gold standard — invasive (vascular puncture, catheter at the stenosis, contrast injected), the most accurate and informative test.
• Computed tomography angiography, magnetic resonance angiography and angiography are used mainly to guide a planned intervention (endovascular or open).
• Labs: electrocardiogram; complete blood count with differential; lipid profile; comprehensive metabolic panel with fasting glucose; renal function (these patients are at risk of renal insufficiency); hemoglobin A1c (average glucose over three months).

Management

Risk-factor reduction first:

• Smoking cessation.
• Blood pressure goal below 140/90 mmHg, or below 130/80 mmHg with diabetes or renal failure.
• Diabetes control; weight control.
• Exercise therapy: refer to an exercise rehabilitation program — supervised is more successful than home-based. Consistent moderate exercise improves walking distance; at least 30–45 minutes three times a week.

Drug therapy (names only; no doses):

• Antiplatelets: aspirin, clopidogrel, cilostazol (cilostazol is also a vasodilator). They lower overall cardiovascular risk from heart attack and stroke and improve walking distance.
• Statins: simvastatin, pravastatin; target low-density lipoprotein below 100 mg/dL, or below 70 mg/dL at high risk (diabetes, continued smoking).
• Pentoxifylline (a xanthine derivative) helps blood flow through narrowed arteries.
• Hyperhomocysteinemia: folic acid with vitamins B12 and B6.

Revascularization is recommended for claudication with severe functional disability and an inadequate response to exercise or drug therapy:

• Endovascular (minimally invasive, like a heart catheterization): percutaneous transluminal angioplasty with or without a stent; atherectomy.
• Bypass graft (invasive, highly effective) with a saphenous vein or synthetic graft — principally for severe critical limb ischemia. Complications: heart attack and stroke, graft infection, peripheral embolization.
• Endarterectomy removes plaque from inside the artery by open surgery.
• Amputation.

2.3 · Arterial thrombosis and embolism: acute limb ischemia and atheroembolism audio after 10/01

Acute limb ischemia is the sudden occlusion of a previously patent artery, with abrupt severe pain and absent pulses in the limb. It is a vascular emergency.

• Thrombosis can occur locally in a previously patent but stenotic artery.
• Embolus — thromboemboli are the most common: a dislodged intravascular thrombus travels distally and occludes a smaller artery. The heart is the source in 80–90% (atrial fibrillation; left ventricular thrombus after a heart attack). Atheroemboli are less likely to produce acute limb ischemia.
• History: sudden onset; there may or may not be prior claudication.
• Examination: the six P’s; a cold, cyanotic limb; absent pulses distal to the occlusion; test strength and sensation. Light-touch fibers are highly sensitive to ischemia, so sensory loss over the dorsum of the foot is often the earliest neurologic sign.

Rutherford categories

Diagnosis and treatment

• Testing depends on the category: magnetic resonance angiography, computed tomography angiography or catheter-based arteriography.
• Immediate vascular surgery consult.
• Anticoagulation with intravenous heparin.
• Intra-arterial catheter-directed thrombolysis when the ischemia is less than 14 days old (alteplase is the thrombolytic).
• Thromboembolectomy (catheter or surgical); arterial bypass; amputation.

Atheroembolism — “blue toe” syndrome

Multiple small deposits of fibrin, platelets and cholesterol debris embolize from proximal atherosclerotic lesions (an abdominal aortic aneurysm can do it too). They lodge in the small vessels of muscle and skin and may not block large vessels, so the distal pulses usually stay palpable. The patient has acute pain and tenderness at the embolization site; digital occlusion gives ischemia and “blue toe” syndrome, and digital necrosis and gangrene may follow. Localized tenderness, pallor and livedo reticularis appear where the emboli land. The deck gives no diagnostic test, treatment or prognosis for atheroembolism.

2.4 · Carotid artery disease audio after 10/01

Atherosclerotic plaque causes stenosis, embolization and thrombosis, and atherosclerosis has a predilection for the extracranial carotid artery (the bifurcation and bulb, where flow recirculates in a low-shear region).

• Responsible for 80% of new noncardioembolic strokes.
• As internal carotid stenosis increases, flow grows more turbulent and the risk of atheroembolization rises.
• Strokes come most often from plaque rupture, not from occlusion with thrombosis.
• Asymptomatic patients (narrowing, with no ischemic stroke or transient ischemic attack in the last six months) with significant stenosis outnumber symptomatic ones 4:1.
• Symptomatic: focal neurologic symptoms, a transient ischemic attack (focal loss of neurologic function lasting less than 24 hours) or a stroke. Focal symptoms (speaker notes): sudden intense headache, paralysis, numbness or tingling on one side, vision changes, drowsiness, and amaurosis fugax — interrupted retinal flow causing transient monocular blindness, fading like a curtain descending.
• Examination: inspect the neck pulses; have the patient hold their breath and auscultate each carotid separately, diaphragm then bell, for a bruit; palpate one side at a time. Add ophthalmic, cardiac, peripheral vascular, neurologic and musculoskeletal examination.

Diagnostic testing

• Duplex ultrasonography — the most widely used initial screening tool, also used to follow patients serially for progression or after intervention.
• Computed tomography angiography or magnetic resonance angiography image the cervical and intracranial carotid and vertebral circulation and the brain.
• Digital subtraction angiography — invasive and the gold standard, but not used for screening; it guides therapeutic interventions.
• The United States Preventive Services Task Force recommended in 2014, and reaffirmed in 2021, against screening asymptomatic adults for carotid stenosis — the harms outweigh the benefits (speaker notes, slide 76).

Management

• Medical: antiplatelets (aspirin, clopidogrel); treat hypertension, diabetes (glycemic control) and hyperlipidemia (statins); smoking cessation — smoking nearly doubles stroke risk; healthy diet, regular exercise, weight reduction with obesity.
• Carotid endarterectomy removes plaque through an incision — the gold standard for high-grade stenosis. Complications: stroke or nerve damage.
• Carotid angioplasty with stenting, usually through the femoral artery (transfemoral) — less invasive, for poor surgical candidates.

2.5 · Aortic aneurysms: abdominal, thoracic and false audio after 10/01

An aneurysm is a pathologic dilation of a vessel segment — a localized dilation greater than 50% of normal diameter. The infrarenal abdominal aorta averages 2 cm; above 3 cm is aneurysmal. Normal thoracic diameter varies with location, body habitus, sex and age.

• True aneurysms involve all three wall layers. Saccular: only part of the circumference, an outpouching. Fusiform: the whole circumference, a diffusely dilated segment.
• Thoracic aortic aneurysm: ascending, arch or descending. Abdominal aortic aneurysm: the most common site; 90% are infrarenal, usually involving the bifurcation and the common iliacs.
• The thoracic aorta begins at the aortic valve and leaves the thorax through the diaphragm at T12; the abdominal aorta runs from the diaphragmatic hiatus to its bifurcation into the common iliacs at the fourth lumbar vertebra.

Epidemiology, cause and risk

• 15,000 deaths a year in the United States from abdominal aortic aneurysm — the only mortality figure in the deck.
• Men > women: 2:1 under 80, 1:1 over 80. Caucasian men have the highest incidence; uncommon in African American, Asian and Hispanic populations.
• Pathophysiology: failure of the major structural proteins (elastin and collagen) in the media; the cause is unclear. Genetic predisposition: Marfan syndrome (FBN1 gene) and Ehlers-Danlos syndrome (COL3A1 gene). Atherosclerosis may weaken the wall mechanically.
• Etiologies: Marfan syndrome (connective tissue disorder); syphilis (destroys the vasa vasorum, the small vessels that supply the walls of larger arteries); vasculitis (Takayasu arteritis, giant cell arteritis); trauma; congenital.
• Risk factors: smoking, current or past — the strongest; male sex; advancing age; Caucasian race; atherosclerosis; hypertension; family history of abdominal aortic aneurysm; other large-artery aneurysms (iliac, femoral, popliteal).
• Protective: female sex (but women’s aneurysms rupture more often); non-Caucasian race; diabetes (reason unknown — perhaps treatment regimens or arterial stiffness).

Abdominal aortic aneurysm: presentation and examination

Examination: palpate the aorta and estimate its size; an abdominal bruit is nonspecific; check the peripheral pulses; a pulsatile mass is more likely with rupture; Grey Turner sign (flank ecchymosis) with retroperitoneal hemorrhage. Differential: acute gastritis, appendicitis, urinary tract infection, diverticulitis, pancreatitis, gallstones, large- and small-bowel obstruction, heart attack, peptic ulcer disease.

Abdominal aortic aneurysm: testing, surveillance and rupture risk

• Abdominal X-ray: a calcified outline is visible in 75%; 25% are not calcified and not seen.
• Abdominal ultrasound — the study of choice for initial screening, and for serial documentation of size.
• Computed tomography is better than ultrasound for size, visceral-artery involvement and extent; magnetic resonance imaging is comparable without dye or radiation — useful in stable patients with a dye allergy.
• Computed tomography angiography — the best diagnostic and pre-intervention planning study; it delineates location, size and extent.
• Labs: electrocardiogram (cardiac status); complete blood count (hemoglobin, hematocrit, white cells); comprehensive metabolic panel (renal and liver function); type and crossmatch if transfusion is possible.

Rupture is rare until the diameter exceeds 5 cm. Risk rises with a diameter above 5.5 cm, expansion above 0.5 cm in six months, continued smoking and hypertension.

Abdominal aortic aneurysm: management

• Medical: manage modifiable risk factors — smoking cessation, aggressive blood pressure control, moderate exercise (running, biking, swimming, hiking).
• Referral to a vascular specialist at 4.5 cm or larger for observation and assessment; urgent referral for aneurysmal pain at any size. Consider vascular surgery referral at 5.0 cm or larger.
• Repair — chosen by age and comorbidities: endovascular aneurysm repair (a modular graft placed through the iliac or femoral arteries lines the aorta and excludes the sac) or open surgery (the diseased segment is replaced with a tube or bifurcated prosthetic graft).
• Symptomatic, unruptured: assess hemodynamic stability, large-bore intravenous catheters, pain control, blood pressure control with beta blockers, and surgical repair (endovascular or open) unless contraindicated.
• Ruptured: hemodynamically unstable — large-bore intravenous catheters, type and crossmatch, surgical emergency.

Thoracic aortic aneurysm

• A history of hypertension is common. Most are asymptomatic, found incidentally on a chest X-ray.
• Symptoms depend on location: ascending → aortic regurgitation, heart failure; arch → hoarseness (recurrent laryngeal nerve); descending → dyspnea, stridor, wheezing, cough, dysphagia (compression of the trachea or esophagus).
• Chest X-ray: widened mediastinal shadow; displacement or compression of the trachea or left mainstem bronchus.
• Labs: complete blood count, comprehensive metabolic panel, type and crossmatch.
• Computed tomography angiography is the most widely used test — it shows the entire thoracic and abdominal aorta. Magnetic resonance angiography gives location, extent and size but is time-consuming. Transesophageal echocardiography evaluates the aortic valve and root.
• Surveillance (root, ascending or descending): below 4.5 cm, computed tomography or magnetic resonance imaging every 3–5 years; 4.5–5.4 cm, every 6–12 months.
• Management: smoking cessation, beta blockers, aggressive blood pressure control. Chest or back pain with a known or suspected thoracic aneurysm needs urgent imaging. Repair ALL symptomatic thoracic aneurysms. Asymptomatic repair depends on diameter, location and growth: ascending above 5.5 cm, descending above 6.0 cm, or growth above 0.5 cm per year. Ascending aneurysms often need open surgery with aortic root replacement; descending ones can be repaired open or endovascularly.

Pseudoaneurysm (false aneurysm)

• A communication between the arterial lumen and the overlying connective tissue after arterial rupture: a blood-filled cavity forms outside the vessel wall and seals the leak as it thromboses.
• Common site: the femoral artery after cardiac catheterization, from laceration by the access needle.
• On imaging (picture only): thin wall, irregular outline, surrounding hematoma — against the true aneurysm’s thick wall and smooth outline.
• Presents with pain from swelling pressure or nerve compression.
• Treatment: watch and wait if below 2 cm (it may thrombose and regress on its own); ultrasound-guided thrombin injection to seal the leak. The deck names no diagnostic test.

2.6 · Aortic dissection audio after 10/01

• Forms from an intimal tear, typically contained by the media: the wall layers separate and create a false lumen within the media where blood can pool (and may clot).
• The most common predisposing factor is degeneration of medial collagen and elastin; Marfan syndrome is the classic medial degeneration.
• Who: age 60s–70s (except Marfan syndrome); males > females; a history of hypertension in most cases.
• Presentation: sudden, severe, tearing or ripping chest pain; its location depends on the site and may change as the dissection propagates distally; syncope; hypertension or hypotension; aortic regurgitation from aortic-root dilatation.
• Diagnosis: the electrocardiogram may be normal; computed tomography of the chest and abdomen delineates the extent; magnetic resonance imaging is good but slower; transesophageal echocardiography.
• Management: stop progression by lowering the pressure — systolic 100–120 mmHg with a beta blocker (esmolol) or a vasodilator (nitroprusside); pain control; surgery to graft and replace the diseased aorta. Untreated acute dissection has a high mortality.

2.7 · The conditions, point by point audio after 10/01

2.8 · Populations audio after 10/01

3 · Cardiomyopathy

Lecture 28 · Grady G. Carter, MSHS, PA-C · Zoom, Thursday 1 October 2026

Where each objective is answered

3.1 · Overview: three shapes of a failing muscle

Cardiomyopathies are a group of diseases of the myocardium — the muscular middle layer of the heart wall, between the epicardium and the endocardium, whose impairment leaves the heart unable to fill and/or contract properly. The overview names three structural types; myocarditis and stress (Takotsubo) cardiomyopathy are taught after them.

When to refer to cardiology (slide 15): to establish care, consider genetic testing, review any high-risk features, and discuss medications or the need for an intervention.

3.2 · Dilated cardiomyopathy

The most common type. The muscle cannot contract effectively in the absence of severe occlusive coronary artery disease or pressure/volume overload (hypertension, valvular disease). One or both ventricles dilate and contract poorly; total cardiac mass rises; adverse remodeling produces a globular (round) heart; the result is systolic dysfunction. As the valve apparatus is distorted, mitral regurgitation (earlier) and tricuspid regurgitation develop; rising end-systolic volume drives further dilation; arrhythmias and thromboembolism follow.

Who and why

• 10,000 deaths and 46,000 hospitalizations a year in the United States. Idiopathic dilated cardiomyopathy is the primary indication for cardiac transplantation.
• Most present at 20–60 (children and older adults can have it); males > females; high rate in African Americans.
• Causes (“the complete list is extensive”): idiopathic (common, probably genetic); familial (common, up to 35%, most often autosomal dominant; research on the lamin A/C gene); infectious myocarditis — viral (coxsackievirus, parvovirus B19, influenza, human immunodeficiency virus) or parasitic (Trypanosoma cruzi, Chagas disease, spread by triatomine “kissing” bugs in South and Central America and Mexico); chemotherapy; long-term excess alcohol — function can recover if intake is reduced or stopped; thiamine (vitamin B1) deficiency; systemic lupus erythematosus and rheumatoid arthritis; peripartum cardiomyopathy (rare; the last trimester to 6 months after delivery).
• History to take: hypertension, angina, coronary disease, anemia, thyroid disease, breast cancer and chemotherapy, prior heart failure or myocardial injury, arrhythmias, thromboembolism; tobacco, alcohol, illicit drugs; family history of cardiomyopathy or sudden death.

Presentation

• Heart failure symptoms: progressive dyspnea on exertion (ask how far they could walk 3 months and 6 weeks ago, and now), fatigue, atrial or ventricular arrhythmias (skipped or fast beats), orthopnea, paroxysmal nocturnal dyspnea, peripheral edema with rising weight and abdominal girth.
• Examination reflects the level of decompensation — left heart failure before right: tachypnea, tachycardia, high or low blood pressure, irregular pulse, narrow pulse pressure (a low systolic pressure reflects a low stroke volume); crackles, pleural effusions (diminished breath sounds), cyanosis; laterally displaced point of maximal impulse, mitral and tricuspid regurgitation murmurs, third heart sound (a large volume of blood striking a very compliant ventricle), jugular venous distension, cool extremities, edema; congestive hepatomegaly, hepatojugular reflux (neck veins distend with firm pressure over the liver), ascites.
• Murmurs: mitral regurgitation is holosystolic, loudest at the apex, radiating to the left axilla, louder with handgrip or squatting; tricuspid regurgitation is holosystolic at the lower left sternal border, radiating to the right sternum and xiphoid but not the axilla, slightly louder with inspiration.
• Differential: acute coronary syndrome, valvular disease, acute pericarditis, cardiac tamponade, hyperthyroidism, myocarditis.

Diagnostic testing

• Labs: complete blood count (anemia), metabolic panel (electrolytes, renal function), liver function (raised in alcoholic disease, hemochromatosis), thyroid function.
• Electrocardiogram — usually abnormal; a normal electrocardiogram almost rules dilated cardiomyopathy out. It may show atrial fibrillation, premature ventricular contractions and conduction delay (left bundle branch block).
• Echocardiogram: dilated, thin walls (the prominent feature); ejection fraction below 40%; all four chambers may be dilated; hypokinesis; segmental wall-motion abnormalities; tricuspid or mitral regurgitation; possible thrombus.
• Chest radiograph: cardiomegaly, pleural effusions, pulmonary edema — Kerley B lines (1–2 cm horizontal lines meeting the pleura at right angles).
• B-type natriuretic peptide is elevated (released at high ventricular filling pressures); below 100 pg/mL excludes heart failure.
• Cardiac magnetic resonance imaging with gadolinium identifies inflammatory, ischemic or infiltrative processes (sarcoidosis, hemochromatosis).
• Biopsy — not routine and rarely useful: only for recent, rapidly deteriorating function, or systemic disease that can involve the heart (hemochromatosis, sarcoidosis, amyloidosis).

Management

Treatment is essentially that of chronic heart failure; every patient, whatever the cause, gets a beta blocker and an angiotensin-converting enzyme inhibitor (speaker notes, slide 42).

• Drug classes: angiotensin-converting enzyme inhibitors (the criterion standard; they lower mortality; for example lisinopril); beta blockers (carvedilol, bisoprolol, metoprolol — lower mortality); angiotensin receptor blockers (losartan); aldosterone receptor blocker (spironolactone, with an angiotensin-converting enzyme inhibitor); sacubitril/valsartan; nitrates (pulmonary edema); diuretics (loop diuretics are the mainstay); antiarrhythmics (amiodarone for supraventricular and nonsustained ventricular tachycardia); anticoagulants.
• Anticoagulation only for atrial fibrillation, an artificial valve or a known mural thrombus.
• Devices: biventricular pacemaker for moderately severe left ventricular dysfunction; implantable cardioverter-defibrillator if the ejection fraction is below 35% after maximum medical therapy; a biventricular defibrillator combines them.
• Left ventricular assist device (pumps blood from the left ventricle into the aorta): a bridge to transplantation or to recovery of function, or destination therapy for those who cannot have a transplant; patients may live more than 5 years with one. Cardiac transplantation.
• Education: the medication regimen and follow-up; remove the offending source (alcohol, nutritional deficiency, cardiotoxic agents); sodium below 2 g a day; genetic counseling with a family history.
• Prognosis: depends on response to therapy; overall poor — 50% mortality at 5 years once symptoms emerge (progressive disease and sudden death from arrhythmia).

3.3 · Acute myocarditis

• Inflammatory disease of the myocardium, from subtle to devastating. It usually strikes an otherwise healthy person and can cause rapidly progressive (often fatal) heart failure and arrhythmia.
• Causes: in developed countries, viral infection is presumed most frequent — parvovirus B19, human herpesvirus 6, enteroviruses (Coxsackie B), adenoviruses, hepatitis C, cytomegalovirus, human immunodeficiency virus, COVID-19 (coronavirus disease 2019). Viral myocarditis accounts for 20% of dilated cardiomyopathy. Also rheumatic fever (beta-hemolytic streptococcus; the heart is affected in 50–90%), bacteria (diphtheria, brucellosis, clostridia, Legionnaires disease, meningococcus, Mycoplasma pneumonia), Trypanosoma cruzi (Chagas), rickettsia (Q fever, Rocky Mountain spotted fever), spirochetes (leptospirosis, Lyme disease), Candida; drugs (penicillin, thiazide diuretics, tetracycline, methyldopa); toxins (lithium, arsenic, lead, copper); autoimmune disease (lupus, rheumatoid arthritis, myasthenia gravis).
• Epidemiology: 1.5 million cases worldwide in 2020; no race predilection; similar in men and women but young males are particularly susceptible.
• History: acute decompensated heart failure in someone with no underlying cardiac dysfunction or low cardiac risk. Viral: a flulike illness 1–2 weeks before (fever, myalgia, fatigue, respiratory symptoms, gastroenteritis). Then exercise intolerance, dyspnea, fluid retention, chest pain; palpitations, syncope or sudden cardiac death from ventricular arrhythmia or atrioventricular block.
• Examination: cardiogenic shock or frank heart failure — tachycardia, hypotension, raised jugular venous pressure, third heart sound, crackles, peripheral edema.
• Differential: tamponade, cardiogenic shock, cocaine cardiomyopathy, ischemic heart disease, valvular disease, coronary atherosclerosis, and the dilated, hypertrophic, peripartum and restrictive cardiomyopathies.
• Testing: blood count (leukocytosis); sedimentation rate (may be raised); troponin (myonecrosis); electrocardiogram (sinus tachycardia, arrhythmias); echocardiogram; chest X-ray (nonspecific, maybe cardiomegaly); cardiac angiography to rule out coronary ischemia as the cause of new heart failure; gadolinium-enhanced magnetic resonance imaging (shows the extent of inflammation).
• Endomyocardial biopsy is the gold standard — once other causes of heart failure are excluded; recommended for acute deterioration of unknown origin that is not responding to treatment.
• Management: a high index of suspicion is needed because many cases are not obvious. Supportive care is the mainstay; aggressive hemodynamic stabilization may be needed; as needed, vasodilators, angiotensin-converting enzyme inhibitors, diuretics, antiarrhythmics, anticoagulation.
• Prognosis: most with mild symptoms recover completely; one third later develop dilated cardiomyopathy.

3.4 · Hypertrophic cardiomyopathy

Left ventricular hypertrophy in the absence of a hemodynamic cause (hypertension, aortic valve disease, infiltrative or storage disease) — often asymmetric, any region, most often the interventricular septum. It carries a high incidence of sudden death and is the leading cause of sudden death in preadolescent and adolescent children.

• Mostly inherited, autosomal dominant (one mutated copy from an affected parent is enough); at least 1,500 mutations, in genes for sarcomere proteins. 1 in 500 people; males > females.
• Without obstruction: diastolic dysfunction — the thick muscle resists filling (reduced compliance) and raises left ventricular end-diastolic pressure.
• With obstruction (hypertrophic obstructive cardiomyopathy): the septum narrows the subaortic outflow tract, and systolic anterior motion of the mitral valve — high-velocity flow pulls the anterior leaflet into the tract — causes mid-systolic obstruction.

Presentation

• May be asymptomatic, found through family screening, a murmur on routine examination or an abnormal electrocardiogram.
• Dyspnea — the common presenting symptom (high diastolic filling pressure backs into the lungs); palpitations (atrial premature beats, atrial fibrillation or flutter, supraventricular or ventricular tachycardia).
• Syncope (very common; low output on exertion or arrhythmia) and presyncope on standing, relieved by lying down — both identify patients at high risk of sudden death: the work-up is urgent.
• Angina without coronary disease (outflow obstruction plus the higher oxygen demand of thick muscle, especially on exertion). Sudden cardiac death: highest in preadolescents and adolescents, related to extreme exertion; over 80% ventricular fibrillation.
• Examination: blood pressure and heart rate usually normal; pulsus bisferiens (“strike twice” — a double systolic peak, matching outflow obstruction); a forceful, sustained apical impulse, maybe displaced; a fourth heart sound (noncompliant ventricle).
• Two murmurs: the outflow murmur — crescendo-decrescendo systolic, best at the left sternal border in the 3rd–4th intercostal space, radiating to the suprasternal notch but NOT to the carotids or neck; and mitral regurgitation from systolic anterior motion — holosystolic at the apex, radiating to the axilla.

Diagnostic testing

• No specific blood test; routine labs look for aggravating factors (blood count — anemia worsens chest pain and dyspnea; fasting glucose; renal and liver function; B-type natriuretic peptide; thyroid). The chest X-ray may be normal.
• Echocardiography is the typical test of choice. The diagnosis is confirmed by unexplained wall thickness of 1.5 cm or more anywhere in the left ventricle; asymmetric septal hypertrophy is the classic pattern; small cavity; ejection fraction usually normal (above 75% late, as the small ventricle nearly empties); mitral regurgitation; systolic anterior motion; left atrial enlargement.
• Electrocardiogram: hypertrophy, atrial enlargement, conduction abnormalities, prominent Q waves in the inferior (II, III, aVF) and lateral (I, aVL, V4–V6) leads, left axis deviation.
• Cardiac magnetic resonance imaging when the echocardiogram is questionable (mitral valve and papillary muscles); exercise echocardiography (functional capacity, ischemia, arrhythmia, obstruction).
• Ambulatory electrocardiogram for 24–48 hours to assess the risk of ventricular arrhythmia and sudden death.
• Catheterization is not needed for diagnosis — only before a pacemaker or surgery. Genetic testing is available but does not change treatment.
• Differential: aortic stenosis, mitral regurgitation, hypertensive left ventricular hypertrophy, athletic heart, restrictive cardiomyopathy.

Management

• Outflow obstruction: a beta blocker (for example metoprolol) is the initial medication; non-dihydropyridine calcium channel blockers (verapamil, diltiazem) are the alternative.
• Avoid drugs that lower preload or afterload — they worsen the obstruction: nitrates; diuretics only with caution (avoid dehydration). Avoid positive inotropes — digoxin, epinephrine, norepinephrine — which raise contractility, ischemia risk and arrhythmias.
• Sudden death prevention: amiodarone (proven to reduce sudden cardiac death, with or without obstruction) and disopyramide; an implantable cardioverter-defibrillator.
• Atrial fibrillation: anticoagulation to prevent embolic stroke; amiodarone (converts atrial fibrillation and flutter and suppresses recurrence); radiofrequency ablation.
• Surgical myectomy excises part of the septum; mitral regurgitation may resolve with it. Alcohol septal ablation injects alcohol down the first septal branch of the left anterior descending artery, making a therapeutic infarct of the upper septum — it takes months for the septum to thin.
• Education: mild to moderate, noncompetitive recreational activity; stay hydrated; avoid excess alcohol.
• Prognosis: variable; sudden cardiac death is the leading cause of death; heart failure symptoms progress gradually; transplantation if unresponsive to therapy.

3.5 · Restrictive cardiomyopathy

• Rare — the least common cardiomyopathy. Impaired diastolic filling with a reasonably preserved chamber size; wall thickness normal or slightly increased (“stiff, but not necessarily thickened”).
• Stiff walls → poor filling → reduced output from reduced filling volume; ejection fraction preserved until late; systolic function usually normal. Both atria enlarge; atrial fibrillation is common; right heart failure is often more prominent. Fibrosis of the sinoatrial and atrioventricular nodes can cause heart block.
• Causes: idiopathic; infiltrative — amyloidosis, the most common in the United States; storage — hemochromatosis (iron); genetic (less common than in other types); inflammatory — cardiac sarcoidosis (granulomas); treatment-related — mediastinal radiation and chemotherapy (inflammation, then fibrosis, then restriction).
• History: often presents late with pronounced symptoms; prior radiation, chemotherapy or systemic disease. Right-sided failure (abdominal pain from hepatomegaly, bilateral pedal edema, ascites), progressive exercise intolerance and dyspnea, orthopnea, paroxysmal nocturnal dyspnea, palpitations from atrial fibrillation (atrial thrombus risk), fatigue, syncope.
• Examination: more comfortable sitting; right failure may dominate although both sides have high filling pressures; elevated jugular venous pressure; first and second heart sounds normal but perhaps distant; secondary mitral or tricuspid regurgitation; a fourth heart sound if there is no regurgitation; peripheral edema; rales; congestive hepatomegaly, hepatojugular reflux, ascites. Kussmaul sign may be present — a paradoxical rise in jugular venous pressure with inspiration (resistance to right ventricular filling); it is also common in constrictive pericarditis.
• Differential: constrictive pericarditis — must be differentiated; acute pericarditis; tamponade; valvular disease; hypertrophic cardiomyopathy.

Diagnostic testing

• Electrocardiogram: depends on stage and cause; low QRS voltage in amyloidosis; atrial fibrillation and bundle branch blocks common.
• Chest X-ray: cardiomegaly from atrial enlargement; congestion and effusions.
• Echocardiogram: preserved ejection fraction (may fall late), marked atrial enlargement, near-normal ventricular function and cavity, normal or thick walls, abnormal diastolic function. Not definitive on its own, because restrictive cardiomyopathy and constrictive pericarditis look alike.
• Cardiac magnetic resonance imaging separates them — pericardial thickening means pericarditis; it also helps when no cause has been found.
• Catheterization for ventricular pressure tracings. Endomyocardial biopsy when imaging and genetic testing are negative, or when tissue would confirm or exclude a diagnosis that changes management.

Management

• Treat the underlying disorder.
• Diuretics for pulmonary and systemic congestion — with caution: stiff ventricles depend on preload to keep up output.
• Beta blockers and verapamil or diltiazem may help by lengthening filling time, improving relaxation and damping sympathetic drive.
• Anticoagulation to prevent embolism from atrial thrombi; permanent pacemaker for conduction disease; cardiac transplantation.
• Prognosis: the poorest of all the heart muscle diseases.

3.6 · Stress (Takotsubo) cardiomyopathy

• “Broken heart syndrome”; takotsubo is Japanese for an octopus trap, a round-bottomed, narrow-necked pot.
• Transient regional systolic dysfunction, mainly of the left ventricle, that mimics acute coronary syndrome without angiographic coronary disease or acute plaque rupture. Cause unknown.
• 90% are postmenopausal women. Trigger: a significant emotional or physical stressor — death of a loved one, bad financial news, natural disaster, a new diagnosis, surgery, withdrawal from illicit drugs, near drowning. Patients tend to have low or no cardiac risk factors.
• Presentation: chest pain and dyspnea most common; palpitations, nausea, vomiting, syncope. The examination is nonspecific and may look like acute coronary syndrome or acute heart failure — anxious, diaphoretic, fast or slow arrhythmias.
• Testing: troponin I and T usually elevated; B-type natriuretic peptide frequently elevated; electrocardiogram with ST elevation and T-wave inversion; transthoracic echocardiogram with hypokinesis or akinesis of the mid and apical segments of the left ventricle. Confirmed by cardiac catheterization — most often normal coronary arteries.
• Management: it mimics acute coronary syndrome with no reliable early differences, so follow the acute coronary syndrome protocols; admit to cardiology; empiric, supportive care — beta blockers helpful, anticoagulation if there is a left ventricular thrombus, diuretics if there is heart failure.
• Prognosis: most recover completely.

3.7 · The conditions, point by point

3.8 · Populations, rehabilitative and palliative care

Two lines on slide 105 — “medication management for symptomatic relief” and “ICD (implantable cardioverter-defibrillator) placement in select cases” — sit between the adolescent and adult lists without belonging clearly to either.

★ Quick reference

Which test answers which question

Numbers that decide management

The things that are NOT what they look like