ABSTRACT
Hypertrophic cardiomyopathy (HCM) is a myocardial disease characterized by abnormal thickening of the ventricular myocardium. It is most commonly inherited as an autosomal dominant disorder caused by mutations in sarcomere or sarcomere-associated protein genes. We report the case of a 15-year-old female with HCM and a strong family history (mother, sister, and maternal grandfather). Despite this background, her diagnosis was made incidentally following the onset of cardiac symptoms. Genetic testing confirmed a pathogenic MYH7 mutation. Based on elevated risk scores (HCM-Risk Kids = 8.6%, Primacy Risk Score = 13.09), she was considered at high risk for sudden cardiac death and underwent implantation of an implantable cardioverter-defibrillator (ICD) for primary prophylaxis. This case highlights the importance of a comprehensive approach to pediatric and adolescent HCM, including family history, genetic testing of at-risk relatives, early diagnosis, and multidisciplinary management. It also emphasizes the urgent need for systematic family screening of first-degree relatives using echocardiography and electrocardiography. Although genetic testing confirmed the diagnosis in our patient, it could not be extended to relatives due to financial limitations. Expanding access to genetic screening at a national level should be a priority. Future research should focus on optimizing genetic testing protocols and improving quality-of-life interventions for young patients with HCM and ICDs. Hypertrophic cardiomyopathy (HCM) is a myocardial disease characterized by abnormal thickening of the ventricular myocardium. It is most commonly inherited as an autosomal dominant disorder caused by mutations in sarcomere or sarcomere-associated protein genes. We report the case of a 15-year-old female with HCM and a strong family history (mother, sister, and maternal grandfather). Despite this background, her diagnosis was made incidentally following the onset of cardiac symptoms. Genetic testing confirmed a pathogenic MYH7 mutation. Based on elevated risk scores (HCM-Risk Kids = 8.6%, Primacy Risk Score = 13.09), she was considered at high risk for sudden cardiac death and underwent implantation of an implantable cardioverter-defibrillator (ICD) for primary prophylaxis. This case highlights the importance of a comprehensive approach to pediatric and adolescent HCM, including family history, genetic testing of at-risk relatives, early diagnosis, and multidisciplinary management. It also emphasizes the urgent need for systematic family screening of first-degree relatives using echocardiography and electrocardiography. Although genetic testing confirmed the diagnosis in our patient, it could not be extended to relatives due to financial limitations. Expanding access to genetic screening at a national level should be a priority. Future research should focus on optimizing genetic testing protocols and improving quality-of-life interventions for young patients with HCM and ICDs.