Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene

Aims Familial dilated cardiomyopathy (FDCM) is associated with mutations in more than 10 genes, but genes mutation frequencies and associated clinical features remain largely unknown. Here, we performed a mutation analysis of four genes involved in FDCM in a population of idiopathic DCM. Methods and...

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Bibliographic Details
Published in:European heart journal 2005-04, Vol.26 (8), p.794-803
Main Authors: Villard, Eric, Duboscq-Bidot, Laetitia, Charron, Philippe, Benaiche, Abdelaziz, Conraads, Viviane, Sylvius, Nicolas, Komajda, Michel
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Biological and medical sciences
Cardiology. Vascular system
Cardiomyopathy
Cardiomyopathy, Hypertrophic, Familial - genetics
Child
Female
Genetic Testing - methods
Genetics
Genotype
Heart
Humans
Infant
Male
Medical sciences
Middle Aged
Mutation
Mutation - genetics
Myocarditis. Cardiomyopathies
Myosin
Myosin Heavy Chains - genetics
Pedigree
Polymorphism, Genetic
Troponin
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Summary:Aims Familial dilated cardiomyopathy (FDCM) is associated with mutations in more than 10 genes, but genes mutation frequencies and associated clinical features remain largely unknown. Here, we performed a mutation analysis of four genes involved in FDCM in a population of idiopathic DCM. Methods and results A SSCP and sequencing mutation screening of all the exons coding for beta myosin heavy chain (MYH7 gene), cardiac T troponin (TNNT2 gene), phospholamban (PLN gene), and the cardio-specific exon of metavinculin (VCL gene) were performed in 96 independent patients (54 familial and 42 sporadic). It led to the identification of eight heterozygous mutations, seven new ones in MYH7, and the already described R141W mutation in TNNT2. MYH7 mutations (in five familial and two sporadic cases) substitute residues located either in the head (I201T, T412N, A550V) or tail domains (T1019N, R1193S, E1426K, R1634S) of the protein. DCM was not associated with skeletal myopathy or conduction defects in any patients. Contrasting clinical features were observed between MYH7 and TNNT2 mutations carriers. In MYH7 vs. TNNT2, mean age at diagnosis was late (P
ISSN:0195-668X
1522-9645
DOI:10.1093/eurheartj/ehi193