Author + information
- Susie Nam Hong,
- Christiane Gruner,
- Raymond Chan,
- Melanie Care,
- Lynne Williams,
- Qin Li,
- Balint Laczay,
- Katherine Siminovitch,
- Anna Woo,
- Warren Manning and
- Harry Rakowski
Despite its autosomal dominant inheritance, sex impacts the prevalence and phenotype of clinically apparent hypertrophic cardiomyopathy (HCM). However, the effect of sex in genotested HCM patients is not well understood. We sought to investigate the relationship between sex with clinical and transthoracic echocardiography (TTE) measures in an HCM cohort who underwent genetic testing.
Clinical and TTE measures were collected in 500 consecutive patients who underwent genetic testing at a tertiary referral center from 2005 to 2010. Baseline clinical and TTE characteristics in men and women were compared among the genotested cohort and a subgroup of genopositive HCM subjects (n=179, patients with an identified pathogenic HCM gene mutation).
There was a greater prevalence of men within our genotested cohort (65%, p< 0.0001). Women were older at diagnosis (47±1 vs. 43±1 years, p=0.019), more likely to have a positive genotype (45±4 vs. 30±3%, p=0.0008), and to present with a higher NYHA class upon referral (1.9±0.06 vs. 1.6±0.04, p< 0.0001). Additionally, women were more likely to have a family history of HCM (43±4 vs. 32±3%, p=0.013) and sudden cardiac death (16±3 vs. 9±2%, p=0.048). Women also had higher estimated left atrial pressures (14±0.5 vs. 12±0.4 mmHg, p=0.0003), higher right ventricular systolic pressures (35±0.7 vs. 32±0.5 mmHg, p=0.0008), and greater indexed maximal wall thickness and left ventricular end diastolic dimension (LVEDD) (11±0.2 vs. 10±0.2 mm/m2and 24±0.3 vs. 22±0.2 mm/m2, respectively, p< 0.0001). Among the genopositive HCM subgroup, which had no significant difference in sex prevalence (male 55%, p=0.13), nearly all these findings were attenuated, with the exception of higher NYHA class (1.9±0.01 vs. 1.6±0.01, p=0.015) and indexed LVEDD (25±0.4 vs. 22±0.4 mm/m2, p=0.0002) in women.
Female sex is associated with adverse clinical and TTE measures within our genotested cohort, which is predominantly driven by genonegative HCM patients and attenuated within the genopositive HCM subgroup. Whether these sex differences are due to biology, referral bias, or true genetic HCM remain to be clarified.
West, Room 3002
Sunday, March 10, 2013, 11:30 a.m.-11:45 a.m.
Session Title: Hypertrophic Cardiomyopathy
Abstract Category: 23. Pericardial/Myocardial Disease
Presentation Number: 927-6
- 2013 American College of Cardiology Foundation