Familiar primary pulmonary hypertension
Keywords:
primary pulmonary hypertensionAbstract
Primary pulmonary hypertension is a rare disease and may present in as an autosomal dominant pattern with incomplete penetrance .
We describe two cases of primary pulmonary hypertension, which developed in two brothers aged 27 and 33 years, born of a consanguineous marriage, but whose parents showed no evidence of pulmonary hypertension.
Both patients presented with dyspnea on exertion with a rapidly fatal outcome, despite aggressive medical therapy.
Grade V (angiomatoid lesions) and grade III (concentric intimai fibrosis) lesions were documented respectively at the autopsy and in the premorbid pulmonary biopsy of each patient.
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