Revista Española de Cardiología (English Edition) Revista Española de Cardiología (English Edition)
Rev Esp Cardiol. 2007;60:311-4 - Vol. 60 Num.03 DOI: 10.1016/S1885-5857(07)60156-X

High-Risk Hypertrophic Cardiomyopathy Associated With a Novel Mutation in Cardiac Myosin-Binding Protein C

Pablo García-Pavía a, Javier Segovia a, Jesús Molano b, Roberto Mora b, Frederic Kontny c, Knut Erik Berge d, Trond P Leren d, Luis Alonso-Pulpón a

a Servicio de Cardiología, Hospital Universitario Puerta de Hierro, Madrid, España,
b Unidad de Genética Molecular, Servicio de Bioquímica, Hospital La Paz, Madrid, España,
c Servicio de Cardiología, Volvat Medical Centre, Oslo, Noruega,
d Departamento de Genética Médica, Hospital Universitario Rikshospitalet, Oslo, Noruega,

Keywords

Hypertrophic cardiomyopathy. Myosin-binding protein C. Genetics. Sudden death.

Abstract

Hypertrophic cardiomyopathy is an autosomal dominant inherited disease characterized by ventricular hypertrophy and myofibril disarray. Mutations responsible for hypertrophic cardiomyopathy have been identified in 11 genes that encode for cardiac sarcomere proteins. Traditionally, hypertrophic cardiomyopathy due to mutation of the myosin-binding protein C gene (MYBPC3) has been thought to follow a benign course. We report a family with several members affected by hypertrophic cardiomyopathy in which there was a high incidence of sudden death. Disease was presumably caused by the substitution of cytosine by guanine at nucleotide 269 of MYBPC3 mRNA. This mutation, which has not previously been described, modifies codon 79, which encodes for the incorporation of a tyrosine, and gives rise to a stop codon. The mutation described here appears to confer a higher risk than that previously associated with hypertrophic cardiomyopathy due to MYBPC3 gene mutation.

1885-5857/© 2007 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved

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