Relationship between sex, shape, and substrate in hypertrophic cardiomyopathy

J. Martijn Bos, Jeanne L. Theis, A. Jamil Tajik, Bernard J. Gersh, Steve R. Ommen, Michael J. Ackerman

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


Background: Hypertrophic cardiomyopathy (HCM) is a disease characterized by substantial genetic, morphologic, and prognostic heterogeneity. Recently, sex-related differences in HCM were reported, with women being older at diagnosis and exhibiting greater left ventricular outflow tract obstruction than men. We sought to evaluate the influence of sex on the HCM phenotype in a large cohort of unrelated patients with genetically and morphologically classified HCM. Methods: Comprehensive genotyping of 13 HCM-susceptibility genes encoding myofilament and Z-disc proteins of the cardiac sarcomere was performed previously on 382 unrelated patients with HCM. Blinded to the genotype, the septal morphology was graded as reverse-curvature, sigmoidal, apical, or neutral-contour HCM by echocardiography. Results: Overall, women (a) were significantly older at diagnosis (45.1 ± 20 vs 35.8 ± 17 years, P < .001), (b) had greater left ventricular outflow tract obstruction (53.5 ± 45 vs 41.7 ± 42 mm Hg, P = .009), (c) were more likely to have concomitant hypertension (19% vs 11%, P = .02), and (d) had a higher rate of surgical myectomy (49% vs 36%, P = .01) than men. Interestingly, these sex-based differences were apparent only among patients with sigmoidal HCM (P < .001). Conclusions: In this largest cohort of comprehensively genotyped and morphologically classified patients with clinically diagnosed HCM, we observed that the striking sex-related differences in the clinical phenotype are confined largely to the subset of mutation-negative sigmoidal HCM. Whereas mutations within the sarcomere appear to dominate the disease process, in their absence, sex has a significant modifying effect, specifically noted in cases of sigmoidal HCM.

Original languageEnglish (US)
Pages (from-to)1128-1134
Number of pages7
JournalAmerican heart journal
Issue number6
StatePublished - Jun 2008

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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