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Article

Genetic diagnosis of hypertrophic cardiomyopathy using mass spectrometry DNA arrays and high resolution melting.

Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology - 1 Jan 2011

Santos Susana, Lança Vasco, Oliveira Helena, Branco Patrícia, Silveira Leonor, Marques Vanda, Brito Dulce, Madeira Hugo, Bicho Manuel, Fernandes Alexandra R

Abstract excerpt

INTRODUCTION: Hypertrophic cardiomyopathy (HCM), a complex myocardial disorder with an autosomal dominant genetic pattern and prevalence of 1:500, is the most frequent cause of sudden death in apparently healthy young people. The benefits of gene-based diagnosis of HCME for both basic research and clinical medicine are limited by the considerable costs of current genetic testing due to the large number of genes...

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Source

Identifiers

PMID: 21425739

Genes

MYBPC3
CSRP3
MYH7
MYL2
TNNI3
TNNT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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