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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Fuster V, Steele P et ai. Pathophysiology and Natural History Pulmonary Hypertension Primary pulmonary hypertension: natural history a I nd the importance of thrombosis. Circulation 1984; 70 (4) 580-587.
Barst R, Loyd J. Genetics and lmmunogenetic Aspects of Primary Pulmonary Hypertension. Chest1998;114(3): 231S - 236S.
Prichard JS. Pulmonary Hypertension, Oxford Textbook of Medicine DJ Weatherall, JGG. Ledingham and DA Warrell, Oxford University Press 1996: 2505 - 2514.
Loyd JE, PrimmRK, Newman JH. Familial primary pulmonary hypertension: clinical patterns. Am Rev Respiratory Diseases 1984; 129( 1): 194 - 197.
Loyd JE, Atkinson JB, Pietra GG et ai. Heterogeneity of pathologic lesions in familial primary pulmonary hypertension. Am Rev Respiratory Diseases 1988; 138(4): 952 - 957.
Giaid A, Saleh D. Reduced Expression of Endothelial Nitric Oxide Synthase in the Lungs of Patients with Pulmonary Hypertension. N Engl J Med 1995; 27: 214 - 222.
Giaid A, Yanagisawa M et ai. Expression of Endothelin-1 in lhe Lungs of Patients with Pulmonary Hypertension. N Engl J Med 1993;17:1732 - 1739.
Katzenstein ALA, Askin FB. Pulmonary Hypertension and other Vascular Disorders Surgical Pathology of Non - Neoplastic Lung Disease Second Edition 1990: 432 - 467.
lnbar S, Schrader BJ, Kaufmann E et ai. Effects of adenosine in combination with calcium channel blockers in patients with primary pulmonary hypertension. J AM Coll Cardiology 1993; 21(2): 413- 418.
Schrader BJ. Pharmd, Shmuel lnbar et al. Comparation of The Effects of Adenosine and Nifedipi9e in lhe Pulmonary Hypertension. JACC 1992; 19(5): 1060-1064.
Chapelier A, Macchiarini P, Cerrina J et al. Comparative Outcome of Heart-Lung and Lung Transplantation for Pulmonary Hypertension. J Thoracic and Cardiov Surgery 1993; 106(2): 299-307.
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