Genotypic and phenotypic characterization of hypertrophic cardiomyopathy at the Sociedad de Cirugía de Bogotá - Hospital de San José, Bogotá, 2023-2025

Abstract

Objectives. To characterise the clinical, imaging, and genetic profile of patients with hypertrophic cardiomyopathy treated at a university hospital in Bogotá between 2023 and 2025. To propose an institutional pathway for multimodal assessment and family screening, informed by the study findings and expert opinion. Materials and methods. We conducted a retrospective, cross-sectional observational study of adults treated at a university hospital, reported in accordance with the STROBE guidelines. We reviewed 182 medical records identified using International Classification of Diseases, 10th Revision (ICD-10) codes. After excluding 120 duplicate, repeated, incomplete, insufficient, or ineligible records, a convenience sample of 62 patients was included. Clinical, family history, imaging, and genetic variables were analysed using descriptive statistics and unadjusted exploratory comparisons according to genetic test results. Results. The median age was 69 years (interquartile range [IQR]: 46-75), and 50% of patients were women. Hypertension was the most common comorbidity (51.6%), and two patients had amyloidosis (3.2%). Asymmetrical septal hypertrophy was the predominant morphological pattern (27 of 46 patients; 58.7%). Both echocardiography and cardiac magnetic resonance imaging were available for 46.8% of patients. Median late gadolinium enhancement was 12%, and extensive fibrosis was observed in 6.5%. Genetic testing results were available for 47 patients (75.8%), of whom 10.6% had pathogenic or likely pathogenic variants. A family history of hypertrophic cardiomyopathy was more common in this group (p<0.001), which also had a higher left ventricular outflow tract gradient, a greater frequency of obstruction of 50 mmHg or more, systolic anterior motion of the mitral valve, and a higher left ventricular ejection fraction. Because only five patients had pathogenic or likely pathogenic variants, these comparisons were interpreted as exploratory. Conclusions. The cohort showed clinical, imaging, and genetic heterogeneity, with a high prevalence of hypertension and the presence of infiltrative phenocopies. These findings support the implementation of an institutional pathway integrating family pedigree assessment, echocardiography with strain imaging, cardiac magnetic resonance imaging with fibrosis quantification, clinical genetic evaluation, and family screening.