Clinical characteristics of 41 children with hypertrophic cardiomyopathy: A single-center retrospective study

Abstract

ObjectiveTo analyze the clinical characteristics, etiological composition, genetic variations, and survival outcomes of children with hypertrophic cardiomyopathy.Materials and methodsThis retrospective study included 41 pediatric patients diagnosed with hypertrophic cardiomyopathy at The First Affiliated Hospital of Guangxi Medical University from 2013 to 2024. Clinical data were reviewed, including symptoms, echocardiography, electrocardiography, genetic testing, and follow-up outcomes. Comparisons were made between patients with primary and secondary hypertrophic cardiomyopathy.ResultsAmong the 41 patients, 27 were men and 14 were women, with a median age at onset of 4 years and 3 months. Genetic testing was performed in 24 cases, identifying 13 cases of primary hypertrophic cardiomyopathy and 11 cases of secondary hypertrophic cardiomyopathy, most commonly associated with Noonan syndrome. The most frequent symptoms were fatigue (28.95%) and dyspnea (23.68%). Common pathogenic genes in primary hypertrophic cardiomyopathy included MYH7 and MYBPC3. Echocardiography revealed asymmetric interventricular septal hypertrophy in 61.0% of cases and left ventricular outflow tract obstruction in 22.0%. No statistically significant differences were observed between primary and secondary hypertrophic cardiomyopathy groups in clinical manifestations or imaging findings. During follow-up, seven patients died. Kaplan-Meier analysis showed a median survival time of 61.4 months, with no significant difference in survival between the two groups.ConclusionPediatric hypertrophic cardiomyopathy demonstrates substantial heterogeneity in clinical presentation and genetic background. Enhanced early screening and genetic testing may improve diagnostic accuracy and facilitate individualized management strategies.

Keywords: Hypertrophic cardiomyopathy; children; clinical evaluation; gene mutation; prognosis.

Figure 1.

Kaplan–Meier survival curves of pediatric patients with HCM. (a) Overall survival of all 41 patients. (b) Comparison of survival between primary and secondary HCM groups (P = 0.487). HCM: hypertrophic cardiomyopathy.