Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.

ABSTRACT:

Objectives

The prognostic value of genetic studies in cardiomyopathies is still controversial. Our objective was to evaluate the outcome of patients with cardiomyopathy with mutations in the converter domain of β myosin heavy chain (MYH7).

Methods

Clinical characteristics and survival of 117 affected members with mutations in the converter domain of MYH7 were compared with 409 patients described in the literature with mutations in the same region.

Results

Twenty-five mutations were evaluated (9 in our families including 3 novel (Ile730Asn, Asp717Gly and Arg719Pro)). Clinical diagnoses were hypertrophic (n=407), dilated (n=15), non-compaction (n=4) and restrictive (n=5) cardiomyopathies, unspecified cardiomyopathy (n=11), sudden death (n=50) and 35 healthy carriers. On

SUBMITTER: Garcia-Giustiniani D 

PROVIDER: S-EPMC4484257 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature