Andrés F. Mosquera-Chavarro, Departamento de Cardiología y Electrofisiología, Hospital de San José de Bogotá, Fundación Universitaria de Ciencias de la Salud, Bogotá, Colombia
Andrea M. Bastidas-Narváez, Departamento de Cardiología y Electrofisiología, Hospital de San José de Bogotá, Fundación Universitaria de Ciencias de la Salud, Bogotá, Colombia
Alejandro Olaya-Sánchez, Departamento de Cardiología y Electrofisiología, Hospital de San José de Bogotá, Fundación Universitaria de Ciencias de la Salud, Bogotá, Colombia
Cladelis Rubio, Departamento de Genética, Hospital de San José de Bogotá, Fundación Universitaria de Ciencias de la Salud; Instituto de Ciencias Básicas, Fundación Universitaria de Ciencias de la Salud. Bogotá, Colombia
Lilian A. Torres-Tobar, Departamento de Genética, Hospital de San José de Bogotá, Fundación Universitaria de Ciencias de la Salud; Instituto de Ciencias Básicas, Fundación Universitaria de Ciencias de la Salud. Bogotá, Colombia
Hereditary hypertrophic cardiomyopathy (HCM) is a leading cause of sudden cardiac death in individuals. The most common form is inherited in an autosomal dominant pattern, making the identification of implicated genetic variants crucial for determining etiology, potentially stratifying risk, and providing family counseling. We present the case of a patient with a history of syncope, with an echocardiogram suggestive of hypertrophic cardiomyopathy with significant obstructive gradient, who underwent a 156-gene sequencing panel, identifying a pathogenic MYH7 c.2207T>C variant. The patient presented severe septal hypertrophy, syncope and risk of sudden death, requiring implantable defibrillator and septal reduction surgery. Subsequent evolution was favorable. The importance of family screening and a comprehensive approach, including genetic evaluation, imaging and management of comorbidities such as hypertension, is emphasized. The pathogenic variant MYH7 c.2207T>C has been previously reported and related to sarcomeric dysfunction. This case highlights how genetic diagnosis supports risk stratification, guides individualized treatment, and enables early detection through family screening, improving outcomes in hypertrophic cardiomyopathy.
Keywords: Hypertrophic cardiomyopathy. Mutation. Missense. Myosin heavy chains. Risk assessment.
