Gender-related differences in the clinical presentation and outcome of hypertrophic cardiomyopathy.

OBJECTIVES: The goal of this study was to assess gender-related differences in a multicenter population with hypertrophic cardiomyopathy (HCM). BACKGROUND: Little is known regarding the impact of gender on the heterogeneous clinical profile and clinical course of HCM. METHODS: We studied 969 consecutive HCM patients from Italy and the U.S. followed over 6.2 +/- 6.1 years. RESULTS: Male patients had a 3:2 predominance (59%), similar in Italy and the U.S. (p = 0.24). At initial evaluation, female patients were older and more symptomatic than male patients (47 +/- 23 years vs. 38 +/- 18 years; p < 0.001; mean New York Heart Association [NYHA] functional class 1.8 +/- 0.8 vs. 1.4 +/- 0.6; p < 0.001), and more frequently showed left ventricular outflow obstruction (37% vs. 23%; p < 0.001). Moreover, female patients were less often diagnosed fortuitously by routine medical examination (23% vs. 41% in male patients, p < 0.001). Female gender was independently associated with the risk of symptom progression to NYHA functional classes III/IV or death from heart failure or stroke compared with male gender (independent relative hazard 1.5; p < 0.001), particularly patients > or =50 years of age and with resting outflow obstruction (p < 0.005). Hypertrophic cardiomyopathy-related mortality and risk of sudden death were similar in men and women. CONCLUSIONS: Women with HCM were under-represented, older, and more symptomatic than men, and showed higher risk of progression to advanced heart failure or death, often associated with outflow obstruction. These gender-specific differences suggest that social, endocrine, or genetic factors may affect the diagnosis and clinical course of HCM. A heightened suspicion for HCM in women may allow for timely implementation of treatment strategies, including relief of obstruction and prevention of sudden death or stroke.

Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in tuscany.

The prevalence and clinical profile of cardiac troponin T gene mutations were evaluated in 150 consecutive patients with hypertrophic cardiomyopathy from the well-defined geographic region of Tuscany. Troponin T mutations had a low prevalence (3.3%; including a newly described Phe110Leu mutation) and were associated with heterogeneous clinical expression and outcome.

Maximum left ventricular thickness and risk of sudden death in patients with hypertrophic cardiomyopathy.

OBJECTIVES: We sought to assess the relationship between maximum left ventricular (LV) wall thickness and outcome in patients with hypertrophic cardiomyopathy (HCM). BACKGROUND: An association between maximum LV wall thickness and risk of sudden death was suggested in HCM. This finding requires further investigation, given the important implications for risk stratification and treatment. METHODS: We analyzed the mortality and risk profile of 237 patients (age 41 +/- 17 years; 63% male) classified into five groups based on echocardiographic maximum LV thickness. RESULTS: During follow-up (12 +/- 7 years), 36 patients died of cardiovascular causes, including 16 sudden deaths. Maximum LV thickness was not associated with a risk of sudden death (p = 0.37) nor with overall cardiovascular mortality (p = 0.7). With the exception of the small subset with thickness values < or =15 mm, with a consistently benign clinical course, the distribution of sudden death and overall cardiovascular mortality was not significantly different among the other four classes, ranging from 16 to 19 mm to > or =30 mm. Among 30 patients with extreme LV thickness (> or =30 mm), only one sudden event occurred among six patients diagnosed at <18 years of age (17%) and none among 24 diagnosed at > or =18 years of age. The prevalence of nonsustained ventricular tachycardia, syncope, an abnormal blood pressure response to exercise, and atrial fibrillation was similar among the five thickness classes. CONCLUSIONS: During 12-year follow-up, we observed no association between maximum LV thickness and cardiovascular mortality in a community-based population with HCM. The degree of maximum LV wall thickness should be considered in the context of a multifactorial approach to risk stratification, rather than as an isolated risk factor. Only in those patients diagnosed at a very young age might the presence of extreme LV wall thickness represent, per se, a potential marker of risk of sudden death.