Author + information
- Sho Torii,
- Liang Guo,
- Ryan Braumann,
- Emanuel Harari,
- Hiroyoshi Mori,
- Matthew Kutyna,
- Aloke Finn and
- Renu Virmani
Background: Hypertrophic cardiomyopathy (HCM) is a fairly common heart disease with estimated prevalence of 1 in 500 people. In more than 1/3 of patients, casual genetic variants have been identified and genotyping may be used to assess risk among families of affected patients. Manrai et al. recently reported the difference of HCM genetic variants between African Americans (AA) and Caucasians (C) in the general population without evidence of disease. Misclassification of benign variants as pathogenic could have important adverse consequences. Here we used our sudden death registry of normal hearts from AA and C to examine the prevalence of HCM alleles in normal populations validated with histological analysis.
Methods: From our sudden death registry of 6989 cases, we evaluated heart weight, and myocardial dimensions including left ventricular (LV) cavity diameter, ventricular septum (VS) and LV free wall thickness. Normal heart was defined as an individual dying of unnatural causes and there had to be an absence of heart disease following a complete autopsy. We only included case without histologic presence of myocardium hypertrophy and fibrosis. From these normal hearts, we checked the high-frequency variants associated with HCM.
Results: Our analysis included 497 AA (60% men [M]) and 613 C (58% M). Logistic regression analysis showed heart weight was not significantly different in AA versus C after adjusting for age, body height and BW (HW, β −3.1, 95%CI −6.3 to 0.2; p=0.06), however, VS was significantly greater in AA versus C (median AAW 14 mm [13, 15], CW 13 mm [12, 15], p=0.0005, AAM 15 mm [14, 16], CM 15 mm [13, 16], p=0.04). Preliminary analysis of limited cases demonstrated prevalence of MYBPC3 allele, one of the most frequent allele of HCM, was positive in 2 of 95 (2.1%) AAM whereas no C demonstrated positive. Other alleles are currently underway and the full results of racial difference of genetic variants associated with hypertrophic cardiomyopathy will be available by ACC 2016.
Conclusions: Although heart weight was not different, septal thickness of AA was significantly thicker than C. Out study is the first to explore racial differences in HCM variants in normal hearts as verified by pathology.
Poster Hall, Hall C
Friday, March 17, 2017, 10:00 a.m.-10:45 a.m.
Session Title: Population Specific Cardiomyopathies: From Exomes to Databases
Abstract Category: 12. Heart Failure and Cardiomyopathies: Basic
Presentation Number: 1122-258
- 2017 American College of Cardiology Foundation