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Primary Pulmonary Hypertension Is Predominantly a Hereditary Disease* FREE TO VIEW

E. Grünig, MD; D. Mereles, MD; K. Arnold, MD; A. Benz, MD; Horst Olschewski, MD; G. Miltenberger-Miltenyi, MD; M. M. Borst, MD, FCCP; A. Abushi, MD; W. Seeger, MD; J. Winkler, MD; M. M. Höper, MD; C. R. Bartram, MD; W. Kübler, MD; B. Janssen, PhD
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*From the Department of Internal Medicine III (Drs. Grünig, Mereles, Arnold, Benz, Borst, Abushi, and Kübler), Institute of Human Genetics (Drs. Miltenberger-Miltenyi, Bartram, and Janssen), University of Heidelberg, Heidelberg; the Department of Internal Medicine II (Drs. Olschewski and Seeger), University of Giessen, Giessen; the Department of Internal Medicine II (Dr. Winkler), University of Leipzig, Leipzig; and Department of Respiratory Medicine (Dr. Höper), University of Hannover, Hannover, Germany.

Correspondence to: E. Grünig, MD, Department of Cardiology, University Hospital, Bergheimer Str. 58, 69115 Heidelberg, Germany; e-mail: ekkehard_gruenig@med.uni-heidelberg.de

Chest. 2002;121(3_suppl):81S-82S. doi:10.1378/chest.121.3_suppl.81S
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The familial form of primary pulmonary hypertension (PPH) has been assumed to account for only 6% of cases. We hypothesized that clinical and genetic assessment of relatives of patients with PPH reveal a substantially higher proportion of familial cases. One hundred eight-one relatives of 31 patients with invasively confirmed PPH were prospectively assessed using Doppler echocardiography (n = 181) and right-heart catheterization (n = 36) for estimation of pulmonary artery systolic pressure (PASP) at rest and during supine bicycle exercise. Linkage analysis was performed in eight families. Manifest PPH was detected in at least one relative (n = 16) of 29% of the index patients. Latent PPH with abnormal PASP response to exercise (≥ 40 mm Hg) was present in at least one relative of another 52% of the index patients. In the families examined genetically, 39 of 41 relatives with abnormal PASP response to exercise shared the risk haplotype with the PPH patients. Thus, 81% of the PPH patients had strong evidence of familial disease. The findings suggest that PPH is predominantly genetically determined. Family screening of PASP response to exercise may lead to an earlier diagnosis and more effective therapy.

Abbreviations: PASP = pulmonary artery systolic pressure; PPH = primary pulmonary hypertension




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