Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.

ABSTRACT:

Objectives

To determine the prevalence and spectrum of mutations and genotype-phenotype relationships in the largest hypertrophic cardiomyopathy (HCM) cohort to date and to provide an easy, clinically applicable phenotype-derived score that provides a pretest probability for a positive HCM genetic test result.

Patients and methods

Between April 1, 1997, and February 1, 2007, 1053 unrelated patients with the clinical diagnosis of HCM (60% male; mean ± SD age at diagnosis, 44.4 ± 19 years) had HCM genetic testing for the 9 HCM-associated myofilament genes. Phenotyping was performed by review of electronic medical records.

Results

Overall, 359 patients (34%) were genotype positive for a putative HCM-associated mutation in 1 or more HCM-associated genes. Univariate and mu

SUBMITTER: Bos JM 

PROVIDER: S-EPMC4234122 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature