An unusual cause of pulmonary hypertension and right heart failure.

Accepted 23 April 1998 A 50-year-old woman presented with a 6-month history of dyspnoea and ankle oedema in the absence of paroxysmal nocturnal dyspnoea or orthopnoea. Two days prior to admission she became more dyspnoeic and was unable to attend to her activities of daily living. There was no history of cough or fever. At age 2 years she had been diagnosed as having fibrodysplasia ossificans progressiva which had resulted in kyphoscoliosis and fixed flexion deformities at her knees, elbows, and wrists. She had received treatment with periodic cyclical etidronate since age 25 years. At age 48 years formal respiratory function tests had confirmed a diagnosis of a restrictive lung defect with an FEV1 of 0.74 1 (27% of predicted) and an FVC of 0.96 1 (29% of predicted) the FEV1/FVC was 77% (94% of predicted). On examination she was apyrexial. She was tachypnoeic at rest with a respiratory rate of 40 breaths/min and was centrally cyanosed. She was noted to have short great toes and the fixed flexion deformities were documented. She was in sinus rhythm at a rate of 100 beats/min and her blood pressure was 137/87 mmHg. The jugular venous pressure was raised to the angle of the jaw with marked V waves. She had a right ventricular heave, a soft systolic murmur audible at her left sternal edge and bilateral pitting oedema to her knees. There was restricted expansion of the chest wall with globally reduced air entry in the absence of wheeze or focal crepitations. Her full blood count revealed a haemoglobin of 17.6 g/dl with a packed cell volume of 0.593 (normal range 0.3-0.5), a white cell count of 6.5 x 109/1, with a normal differential cell count and a platelet count of 178 x 109/1. Serum biochemistry was normal other than a raised bicarbonate 32 mmol/l. She was hypoxic on pulse oximetry with a saturation of 72% on air. Formal arterial blood gases were not performed because ofthe concerns about arterial puncture in this condition. Her electrocardiogram (ECG) and chest X-ray are shown in figures 1 and 2, respectively. Despite intensive treatment she had an asystolic arrest and died. At post-mortem she was found to have gross right ventricular hypertrophy due to pulmonary hypertension. The latter was thought to be a consequence of chronic hypoxia secondary to a restrictive lung defect associated with her muscle disease.