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PMID: 3605207 Published · ppublish English Case Reports Journal Article

Dominantly inherited dilated cardiomyopathy.

American journal of medical genetics ·Vol. 27 ·No. 1 ·1987-05-00 ·Pages 61-73

Gardner RJ, Hanson JW, Ionasescu VV, Ardinger HH, Skorton DJ, Mahoney LT, Hart MN, Rose EF, Smith WL, Florentine MS

Abstract

We describe a family in which there is segregating an autosomal dominant gene determining a cardiomyopathy. The pathodynamics is that of pump failure associated with dilatation of the heart, generally having an overt clinical onset from the fourth through seventh decades. Dysrhythmia is a frequent concomitant feature. There may be an associated skeletal myopathy, either producing a very mild proximal weakness or proving detectable only upon biopsy. This family is similar to other reported cases of familial dominant "idiopathic" dilated cardiomyopathy, but the nature of the heterogeneity within this category remains to be elucidated. The roles of echocardiography, cardiac biopsy, and skeletal muscle biopsy in the presymptomatic detection of the heterozygote are noted.

MeSH Terms
Adolescent Aged Arrhythmias, Cardiac/genetics Cardiomyopathy, Dilated/diagnosis,genetics,physiopathology Child Echocardiography Female Genes, Dominant Humans Male Middle Aged Muscles/pathology Myocardium/pathology Pedigree
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Gardner R J
Hanson J W
Ionasescu V V
Ardinger H H
Skorton D J
Mahoney L T
Hart M N
Rose E F
Smith W L
Florentine M S
Article Info
Journal
American journal of medical genetics
Abbr.
Am J Med Genet
ISSN
0148-7299
Published
1987-05-00
Pages
61-73
Language
English
Region
United States
NLM ID
7708900
Subset
IM
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