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KEY FEATURES

ESSENTIALS OF DIAGNOSIS

  • Progressive remodeling of the distal pulmonary arteries

  • Dyspnea, malaise, chest pain, or exertional syncope

  • Increased intensity of the pulmonic component of S2

  • ECG evidence of right ventricular (RV) hypertrophy

  • On catheterization, end-expiratory mean pulmonary artery pressure (PAP) ≥ 25 mm Hg, pulmonary artery wedge pressure ≤ 15 mm Hg, and pulmonary vascular resistance (PVR) > 3 Wood units at rest

GENERAL CONSIDERATIONS

  • Uncommon disorder with an estimated prevalence of 15 to 50 per million population

  • Characterized by elevated PAP and PVR, progressive right heart failure, and very poor survival

  • Etiologies include inherited mutations, drug- or toxin-induced, or associated with connective tissue disease, congenital heart disease, portal hypertension, or HIV infection. Termed idiopathic pulmonary arterial hypertension (IPAH) when no causative factor is identified

  • Bone morphogenetic protein receptor type II (BMPR2) gene mutations identified in 50% of familial cases and approximately 10% of sporadic cases

  • Pathophysiology is pulmonary vasoconstriction, vascular remodeling, and in situ thrombosis

  • Targeted treatment options are rapidly increasing, and overall prognosis is improving

  • Pregnancy should be strongly discouraged because of high maternal and fetal mortality

  • Noncardiac surgery is associated with high perioperative morbidity and mortality

CLINICAL PRESENTATION

SYMPTOMS AND SIGNS

  • Symptoms may be vague and subtle

  • Dyspnea

  • Exercise intolerance

  • Exertional chest pain (angina)

  • Dizziness and presyncope

  • Syncope

  • Palpitations

  • Increased abdominal girth (ascites)

  • Extremity swelling

PHYSICAL EXAM FINDINGS

  • Tachycardia

  • Hypotension

  • Hypoxia may or may not be present

  • Normal or elevated jugular venous pressure with prominent a waves

  • Left parasternal lift (enlarged RV)

  • Increased intensity of P2

  • Holosystolic murmur of tricuspid regurgitation at the lower sternal border

  • Diastolic murmur of pulmonic insufficiency at the left sternal border

  • Hepatomegaly; pulsatile liver with severe tricuspid regurgitation

  • Peripheral edema

DIFFERENTIAL DIAGNOSIS

  • Mitral stenosis

  • Sleep apnea

  • Chronic pulmonary embolism

  • Autoimmune diseases such as scleroderma

  • Left ventricular failure

  • Congenital heart disease

  • Pulmonary veno-occlusive disease

DIAGNOSTIC EVALUATION

LABORATORY TESTS

  • CBC (polycythemia suggests respiratory disease or congenital heart disease)

  • Electrolytes, blood urea nitrogen, creatinine (prerenal azotemia suggests poor forward cardiac output or overdiuresis)

  • Liver function tests (may be elevated with passive liver congestion from right heart failure)

  • Serum brain natriuretic peptide and uric acid levels have prognostic value

  • Tests to exclude secondary causes: antinuclear antibody, rheumatoid factor, HIV serology, thyroid function tests, urine toxicology for amphetamines/cocaine

ELECTROCARDIOGRAPHY

  • Sinus tachycardia

  • Atrial flutter or fibrillation

  • Right atrial enlargement

  • RV hypertrophy

  • Right bundle branch block

IMAGING STUDIES

  • Chest x-ray: RV enlargement

  • Transthoracic echocardiography:

    • – Findings associated with poor survival are right atrial enlargement, reduced RV function, and a pericardial effusion

    • – Typical findings are variable RV enlargement, hypertrophy, and systolic dysfunction; D-shaped left ventricle due ...

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