Sex Differences in Hypertrophic Cardiomyopathy: Interaction With Genetics and Environment

Abstract

Purpose of review: We explore the sex-specific interaction of genetics and the environment on the clinical course and outcomes of hypertrophic cardiomyopathy (HCM).

Recent findings: Women account for approximately one-third of patients in specialist HCM centres and reported in observational studies. As a result, evidence informing clinical guideline recommendations is based predominantly on risk factors and outcomes seen in men. However, disease progression appears to be different between the sexes. Women present at a more advanced stage of disease, are older at diagnosis, have higher symptom burden, carry greater risk for heart failure and are at greater risk of mortality compared to men. Women are more likely to be gene-positive, while men are more likely to be gene-negative. The risk of sudden cardiac death and access to specialised care do not differ between the sexes. Reporting sex-disaggregated results is essential to identify the mechanisms leading to sex differences in HCM.

Keywords: Environment; Genetics; Hypertrophic cardiomyopathy; Sex.

Fig. 1

Complex relationship of factors that determine the sex-related differences in hypertrophic cardiomyopathy

Fig. 2

Sex differences in clinical profile, genotype and outcomes in hypertrophic cardiomyopathy

Fig. 3

Sex distribution of original research studies used to inform clinical recommendations in the 2020 AHA 2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy [2]