Chest, Vol 99, 1208-1210, Copyright © 1991 by American College of Chest Physicians

ARTICLES

Familial pulmonary hypertension in association with an abnormal hemoglobin. Insights into the pathogenesis of primary pulmonary hypertension

S Rich and K Hart
Department of Medicine, University of Illinois College of Medicine, Chicago 60680.

A kindred with a familial hemoglobinopathy and familial primary pulmonary hypertension with autosomal dominant transmission has been identified. Affected family members were obvious from their cyanosis due to a reduced affinity for oxygen by the hemoglobin variant. The mother and one child had clinical pulmonary hypertension, whereas two siblings had cyanosis and preclinical pulmonary vascular disease as evidenced by abnormal perfusion lung scans and elevated levels of fibrinopeptide A in the face of normal pulmonary hemodynamics. In one, pulmonary hypertension could be induced with exercise. The studies on this family support the hypothesis that primary pulmonary hypertension may be initiated by abnormalities of the pulmonary vascular bed that predispose to in situ thrombosis. The possible common genetic transmission of the two diseases offers the speculation that the gene that confers predisposition to pulmonary hypertension may be located near the gene responsible for beta globulin.

This article has been cited by other articles:

				J. H. Morse, A. C. Jones, R. J. Barst, S. E. Hodge, K. C. Wilhelmsen, and T. G. Nygaard Mapping of Familial Primary Pulmonary Hypertension Locus (PPH1) to Chromosome 2q31-q32 Circulation, June 17, 1997; 95(12): 2603 - 2606. [Abstract] [Full Text]