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  • Title: Familial study of hypertrophic cardiomyopathy and congenital aortic valve disease.
    Author: Feizi O, Farrer Brown G, Emanuel R.
    Journal: Am J Cardiol; 1978 May 01; 41(5):956-64. PubMed ID: 565586.
    Abstract:
    A woman with coexisting calcific aortic valve disease and hypertrophic obstructive cardiomyopathy was studied before homograft replacement of the aortic valve and in the second and fourth postoperative years. Postoperative hemodynamic findngs, in studies performed with and without pharmacologic agents, were similar to those of patients with hypertrophic cardiomyopathy. Echocardiographic studies 9 years after operation revealed asymmetric septal hypertrophy and systolic anterior motion of the mitral valve leaflet echoes. The patient eventually died from carcinoma of the bronchus 9 years after aortic valve replacement. At autopsy the heart showed the features of hypertrophic obstructive cardiomyopathy. In addition, the aorta the arrangement of the smooth muscle and elastic fibers was disordered. Subsequently, 10 asymptomatic relatives from four generations of this family were studied clinically and with echocardiography. Unsuspected asymmetric septal hypertrophy was found in four, and the pattern of the aortic valve echoes was compatible with a bicuspid valve in three. Three relatives had coexisting asymmetric septal hypertrophy and a bicuspid aortic valve. This family study shows that hypertrophic cardiomyopathy and bicuspid aortic valve may coexist and may be inherited as a dominant characteristic with variable manifestations.
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