Desmin mutation responsible for idiopathic dilated cardiomyopathy. Academic Article uri icon

Overview

abstract

  • BACKGROUND: Idiopathic dilated cardiomyopathy, of which approximately 20% of cases are familial (FDCM), is a primary myocardial disorder characterized by ventricular dilatation and impaired systolic function. It is a common cause of heart failure and the need for cardiac transplantation. Although 6 chromosomal loci responsible for autosomal dominant FDCM have been mapped by linkage analysis, none of these genes have been identified. By use of the candidate-gene approach, actin was identified recently as being responsible for dilated cardiomyopathy. Considerable evidence suggests desmin, a muscle-specific intermediate filament, plays a significant role in cardiac growth and development. METHODS AND RESULTS: To determine whether a defect of desmin induces dilated cardiomyopathy, 44 probands with FDCM underwent clinical evaluation and DNA analysis. Diagnostic criteria, detected by echocardiography, consisted of ventricular dimension of >/=2.7 cm/m(2) with an ejection fraction

publication date

  • August 3, 1999

Research

keywords

  • Cardiomyopathy, Dilated
  • Desmin
  • Mutation, Missense

Identity

Scopus Document Identifier

  • 0033520037

Digital Object Identifier (DOI)

  • 10.1161/01.cir.100.5.461

PubMed ID

  • 10430757

Additional Document Info

volume

  • 100

issue

  • 5