Mutaciones en el gen de la cadena pesada de la betamiosina en pacientes con miocardiopatía hipertrófica

Content Provider	Semantic Scholar
Author	Laredo, Rafael Monserrat, Lorenzo Hermida-Prieto, Manuel Fernández, Xusto Rodríguez, Isabel Cazón, Laura Alvariño, Inés Dumont, Carlos A. Piñón, Pablo Peteiro, Jesús Bouzas, Beatriz Castro-Beiras, Alfonso
Copyright Year	2006
Abstract	Introduction and objectives. To determine the frequency of mutations in the beta-myosin heavy-chain gene (MYH7) in a cohort of patients with hypertrophic cardiomyopathy (HCM) and their families, and to investigate correlations between genotype and phenotype. Methods. Single-strand conformation polymorphism analysis and sequencing of fragments with abnormal MYH7 gene mobility were carried out in 128 consecutive index patients with HCM. The phenotypes of patients with and without mutations were compared and the phenotypes of identified families were recorded. Results. A total of 11 mutations were found in 13 families (10%); 7/11 had been previously described. The I736T mutation was found in 3 families and the A797T in 2. One patient had 2 mutations (i.e., I736T and R787H). Mutations were more frequent in patients with a family history of sudden death (31%) and in those with severe hypertrophy (39% had a thickness ≥30 mm). Mutations were found in 29 of 42 members of the 13 families, including 6 family members (20%) who were healthy carriers and aged ≤36 years. Sudden death had occurred in 8 members of 4 families: four in 2 families with the I736T mutation, 1 in a family with A797T, 1 in a family with R870H, and 2 in a family with A901P. Conclusions. MYH7 mutations were present in 10% of our families. Mutations were more frequent in patients with a family history of sudden death and in those with severe hypertrophy. Most mutations had been described previously. Some appeared in several families. For some mutations, the correlation between genotype and phenotype was stable, while for others, there were marked differences between the phenotypes of the index
Starting Page	1008
Ending Page	1018
Page Count	11
File Format	PDF HTM / HTML
DOI	10.1157/13093977
Volume Number	59
Alternate Webpage(s)	https://www.revespcardiol.org/index.php?p=revista&pii=13093977&tipo=pdf-simple
Alternate Webpage(s)	https://doi.org/10.1157/13093977
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article