A 30-year-old woman presents with a 2-month history of progressive dyspnea on mild exertion. The condition is associated with rapid regular palpitations but no orthopnea, nocturnal dyspnea, chest pain, cough, or hemoptysis. Two weeks earlier, the patient had experienced painless bilateral lower extremity swelling that reached her mid leg, with no erythema or warmth. She has also recently noted diffuse abdominal enlargement and dull, aching, right-sided abdominal pain without jaundice, alteration in her bowel habits, oliguria, polyuria, or hematuria. She received diuretic medications at that time, with resolution of her edema but without improvement in her dyspnea. A year before this presentation, she had recurrent attacks of pain and bluish discoloration of her fingers and toes on exposure to cold. During one episode, her symptoms progressed to the point that fixed color changes developed on the tip of the right big toe, with subsequent gangrene and loss of the digit. In a separate episode, she reported recurrent bleeding following tooth extraction but noted no history of purpura or cutaneous or mucus membrane bleeding. She reports no photosensitivity, hair loss, arthritis, arthralgia, or oral ulcers. She is gravida 6 para 3, with a history of 3 miscarriages.
On physical examination, she has a regular pulse of 90 beats/min, a respiratory rate of 14 breaths/min, and a temperature of 98.2°F (36.8°C). Her blood pressure is noted to be 130/80 mm Hg. Her neck veins are not distended. The extremity examination reveals bilateral clubbing of the upper digits. Both feet show sluggish capillary circulation, peripheral cyanosis, loss of nail luster (and the lost tip of the right big toe), and 2 small necrotic ulcers on the shin of the tibia. No lower extremity edema is noted and her calf muscles are nontender. Examination for the Homans’ sign is negative. The cardiac examination reveals an accentuated S2 and a grade III/VI pansystolic murmur best heard over
the tricuspid area, which increases with inspiration. The chest examination is unremarkable. The abdominal examination reveals hepatosplenomegaly without ascites.
The laboratory investigations reveal an erythrocyte sedimentation rate of 140 mm/hr, a complete blood cell count demonstrating a normocytic normochromic anemia (hemoglobin 9.8 g/dL), and thrombocytopenia (30,000/μL). The lactate dehydrogenase level is found to be normal, and a Coombs test is negative. Kidney and liver function testing are normal and the cardiac biomarkers are negative. ECG reveals P-pulmonale, right ventricular enlargement, and extreme right axis deviation. Chest x-ray demonstrates right ventricular enlargement. Transthoracic echocardiography reveals a normal-sized left ventricle with good overall contractility and no segmental wall motion abnormalities at rest. Normal septal motion is observed. Normal mitral, aortic, and pulmonary valves are noted, but the tricuspid valve demonstrated severe tricuspid regurgitation, with possible vegetation. The estimated pulmonary artery systolic pressure is 57 mm Hg. Given these findings, a transesophageal echocardiogram is obtained that shows a moderately dilated right atrium and ventricle, with sizable vegetation on the tricuspid valve. CT scanning of the chest with contrast reveals a markedly dilated right pulmonary arterial branch. Venous duplex ultrasonography of the lower extremities shows absent flow with wall thickening consistent with chronic thrombosis of both the right and left deep venous systems.
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