Photo Credit: Andrey Popov

The following is a summary of “Survival analysis and gender differences in hypertrophic cardiomyopathy proband patients referred for genetic testing,” published in the May 2024 issue of Cardiology by Lorca et al.

It is widely believed that hypertrophic cardiomyopathy (HCM) has a low mortality rate, which is potentially influenced by gender, especially among probands.

Researchers conducted a retrospective study evaluating the survival rates and potential gender variations in a uniform patient group of HCM proband undergoing genetic testing, all from the same region and with equal access to medical care and referral pathways. 

They compared the mortality rates of a cohort of consecutive HCM probands referred for genetic testing (2000-2022) in a Spanish region (xxx1) with a centralized genetic testing pathway. The Ederer II method compared and studied gender differences with a control reference population.

The results showed that among 649 HCM probands, men had a majority (61.3% vs. 38.7%, P<0.05) and were diagnosed earlier (53.5 years vs. 61.1 years, P<0.05). Gender did not affect clinical evolution or arrhythmogenic profile. Follow-up averaged 9.8 ±6.6 years. No significant differences in mortality were seen overall. However, excess mortality was found in female probands.

Investigators concluded that survival rates among HCM probands were similar to the reference population. Despite no gender differences in disease severity, women with HCM experienced delayed diagnosis and poorer outcomes.

Source: internationaljournalofcardiology.com/article/S0167-5273(24)00739-3/abstract#%20