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Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects

Eloisa Arbustini1, Michele Pasotti, Andrea Pilotto

  • 1Molecular Diagnostic Laboratory, I.R.C.C.S. Policlinico San Matteo, Pavia, Italy. e.arbustini@smatteo.pv.it

European Journal of Heart Failure
|December 27, 2005
PubMed

Insights

Desmin gene mutations cause desminopathies, leading to heart conditions like restrictive cardiomyopathy and atrioventricular block. Identifying desmin accumulation in endomyocardial biopsies is crucial for diagnosis.

Area of Science:

  • Cardiology
  • Genetics
  • Pathology

Background:

  • Primary desminopathies stem from mutations in the desmin gene (DES).
  • The clinical spectrum encompasses pure myopathies, cardiomuscular diseases, and cardiomyopathies.
  • Restrictive cardiomyopathy (RCM) with atrioventricular block (AVB) due to DES defects can be missed without specific investigation for desmin accumulation.

Purpose of the Study:

  • To characterize the specific cardiac phenotype of RCM with AVB resulting from desmin accumulation linked to DES gene defects.

Main Methods:

  • Desmin accumulation was identified via ultrastructural and immunocytochemical analysis of endomyocardial biopsies (EMB).
  • Sequence analysis was performed on candidate genes DES and alphaB-crystallin (CRYAB).

Main Results:

  • Four unrelated individuals with RCM and AVB showed desmin accumulation.
  • Four DES gene mutations were identified: three novel (R16C, T453I, exon 3 splice site deletion) and one known (R406W).
  • Inheritance patterns included autosomal dominant (2 families), recessive (1 family), and de novo (1 patient); mutations segregated with the phenotype. CRYAB screening was negative.

Conclusions:

  • A distinct cardiac phenotype of RCM and AVB is associated with desmin accumulation caused by DES mutations.
  • Identified DES mutations, despite affecting different domains, resulted in an identical cardiac phenotype.
Abstract

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