Patterns of inheritance in hypertrophic cardiomyopathy: Assessment by m-mode and two-dimensional echocardiography

doi:10.1016/0002-9149(84)90643-X

The American Journal of Cardiology

Volume 53, Issue 8, 1 April 1984, Pages 1087-1094

https://doi.org/10.1016/0002-9149(84)90643-X Get rights and content

Abstract

To determine the mode of inheritance of hypertrophic cardiomyopathy (HC), 367 relatives from 70 families with HC were studied by M-mode and 2-dimensional echocardiography (2-D echo). Inspection of individual family pedigrees suggested that HC was genetically transmitted in 39 pedigrees (56%) and probably sporadic in 31 (44%). Of the 39 pedigrees with familial occurrence, 30 had patterns of inheritance that were most consistent with autosomal dominant transmission. A complex mathematical pedigree analysis determined that patterns of genetic transmission observed in the overall study group were not consistent with known models of autosomal dominant, autosomal recessive, or X-linked inheritance and did not support a unified concept of single-gene Mendelian transmission for all families.

The proportion of first-degree relatives affected by HC was 22%, with HC most common in fathers of the proband and least common in offspring. About 20% of the affected relatives (10 of 53) appeared to have inherited a “subclinical” form of HC, in which the sole evidence of HC was the morphologic expression detectable only with echocardiography.

Probands and affected relatives differed distinctly with regard to the expression of HC. Probands most often showed functional limitation (81%), subaortic obstruction at rest (53%), particularly diffuse distribution of left ventricular hypertrophy (59%) and marked septal thickening (mean 23 mm). In contrast, affected relatives were characterized by absence of functional limitation (72%) and subaortic obstruction (94%), localized and unusual sites of hypertrophy (60%) and only modest septal thickening (mean 17 mm). Probands with the familial or sporadic forms of HC did not differ with regard to the phenotypic expression (clinical or morphologic) of their disease.

In conclusion, no single mode of inheritance is typical of HC, although autosomal dominant transmission is most common; a variety of phenotypic expressions occur that appear to have genetic as well as nongenetic causes, suggesting that HC may not be a single etiologically distinct disease entity; and genetic counseling recommendations should be influenced by the particular pattern of inheritance demonstrated in each family.

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CardiomyopathyPatterns of inheritance in hypertrophic cardiomyopathy: Assessment by m-mode and two-dimensional echocardiography

Abstract

Am J Med

Am J Cardiol

Lancet

Am J Cardiol

Am J Cardiol

Am J Cardiol

Am J Cardiol

Chest

Am J Cardiol

Human Pathol

Asymmetrical hypertrophy of the heart in young patients

Br Heart J

A family with obstructive cardiomyopathy (asymmetrical hypertrophy)

Br Heart J

Familial muscular subaortic stenosis. An unrecognized form of “idiopathic heart disease,” with clinical and autopsy observations

Circulation

Muscular subaortic stenosis in childhood. Report of occurrence in three siblings

Pediatrics

Idiopathic hypertrophic subaortic stenosis: I. A Description of the disease based upon an analysis of 64 patients

Circulation

Familial myocardial disease with and without obstruction to left ventricular outflow

Circulation

Genetische Untersuchungen bei funktionell-obstruktiver subvalvulärer Aortenstenose (irregulär hypertrophischer Kardiomyopathie)

Hum Genet

Idiopathic hypertrophic subaortic stenosis. Clinical analysis of 126 patients with emphasis on the natural history

Circulation

Twin studies in hypertrophic cardiomyopathy

Br Heart J

Echocardiographic diagnosis of idiopathic hypertrophic cardiomyopathy without outflow obstruction

Circulation

Asymmetric septal hypertrophy (ASH): echocardiographic identification of the pathognomonic anatomic abnormality of IHSS

Circulation

Cardiomyopathy
Patterns of inheritance in hypertrophic cardiomyopathy: Assessment by m-mode and two-dimensional echocardiography