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Factors Influencing the Phenotypic Expression of Hypertrophic Cardiomyopathy in Genetic Carriers.

Factors Influencing the Phenotypic Expression of Hypertrophic Cardiomyopathy in Genetic Carriers.
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Pérez-Sánchez I, Romero-Puche AJ, García-Molina Sáez E, Sabater-Molina M, López-Ayala JM, Muñoz-Esparza C, López-Cuenca D, de la Morena G, Castro-García FJ, Gimeno-Blanes JR,


Pérez-Sánchez I, Romero-Puche AJ, García-Molina Sáez E, Sabater-Molina M, López-Ayala JM, Muñoz-Esparza C, López-Cuenca D, de la Morena G, Castro-García FJ, Gimeno-Blanes JR, (click to view)

Pérez-Sánchez I, Romero-Puche AJ, García-Molina Sáez E, Sabater-Molina M, López-Ayala JM, Muñoz-Esparza C, López-Cuenca D, de la Morena G, Castro-García FJ, Gimeno-Blanes JR,

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Revista espanola de cardiologia (English ed.) 2017 07 04() pii 10.1016/j.rec.2017.06.002

Abstract
INTRODUCTION AND OBJECTIVES
Hypertrophic cardiomyopathy (HCM) is a disorder with variable expression. It is mainly caused by mutations in sarcomeric genes but the phenotype could be modulated by other factors. The aim of this study was to determine whether factors such as sex, systemic hypertension, or physical activity are modifiers of disease severity and to establish their role in age-related penetrance of HCM.

METHODS
We evaluated 272 individuals (mean age 49 ± 17 years, 57% males) from 72 families with causative mutations. The relationship between sex, hypertension, physical activity, and left ventricular hypertrophy was studied.

RESULTS
The proportion of affected individuals increased with age. Men developed the disease 12.5 years earlier than women (adjusted median, 95%CI, -17.52 to -6.48; P < .001). Hypertensive patients were diagnosed with HCM later (10.8 years of delay) than normotensive patients (adjusted median, 95%CI, 6.28-17.09; P < .001). Individuals who performed physical activity were diagnosed with HCM significantly earlier (7.3 years, adjusted median, 95%CI, -14.49 to -1.51; P = .016). Sex, hypertension, and the degree of physical activity were not significantly associated with the severity of left ventricular hypertrophy. Adjusted survival both free from sudden death and from the combined event were not influenced by any of the exploratory variables. CONCLUSIONS
Men and athletes who are carriers of sarcomeric mutations are diagnosed earlier than women and sedentary individuals. Hypertensive carriers of sarcomeric mutations have a delayed diagnosis. Sex, hypertension, and physical activity are not associated with disease severity in carriers of HCM causative mutations.

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