PRIMARY PULMONARY HYPERTENSION IN THREE SIBS

Abstract

The number of well-documented reports of the findings in primary pulmonary hypertension is increasing rapidly, but the ctiology remains obscure. A review of the published series reveals two possible clues. First, most of them show a significant female preponderance and, secondly, some suggest that primary pulmonary hypertension can be familial. Thus Dresdale et al. (1954) described three cases, mother and son and the mother's sister, all of whom died of right heart failure. Cardiac catheterization in the mother and son demonstrated severe pulmonary hypertension and showed no congenital cardiac defects, and in the case of the sister the diagnosis was based on clinical, electro- cardiographic, and radiological findings: a brother of the mother died of undiagnosed heart disease at an early age. Clarke et al. (1927) in a paper on lesions of the pulmonary arteries described two sisters: one of them died in heart failure at the age of 52 years, and necropsy showed a dilated and hypertrophied right heart with no septal defects and marked atheroma of the pulmonary arteries; the other sister, aged 7 years, was cyanosed and dyspncic and showed clinical evidence of right ventricular hypertrophy. Lange (1948) described a family of 186 members of whom 82 were said to be cyanosed: of 42 members personally examined, 30 were cyanosed and 10 had an accentuated pulmonary second sound; 13 out of 21 examined radiologically had an enlarged pulmonary conus, and some had cardiographic evidence of right ventricular preponderance: none of these cases came to necropsy. Because of lack of post-mortem confirmation, this evidence, though suggesting that primary pulmonary hypertension can be familial, remains inconclusive. For this reason we report the findings in a brother and two sisters who died of primary pulmonary hypertension confirmed in each case by necropsy.