Non-Echocardiographic Evaluation of Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a heterogeneous genetic and phenotypic myocardial disease where diagnosis and risk stratification extend beyond the mere detection of left ventricular hypertrophy. While echocardiography is the first-line imaging modality, this approach often offers limited insights into disease etiology, biological activity, and natural history. Thus, several non-echocardiographic modalities have emerged as prominent components of contemporary HCM investigations. Electrocardiography (ECG) provides early, readily accessible insights into myocardial remodeling and arrhythmic risk. Cardiac magnetic resonance (CMR) imaging enhances phenotyping through detailed tissue characterization and fibrosis assessment, while nuclear imaging uniquely evaluates myocardial perfusion and microvascular injury. Plasma biomarkers and genetic testing offer valuable insights into disease activity and risk stratification for affected individuals and at-risk relatives, especially when combined with imaging findings. Therefore, this review summarizes current knowledge on non-echocardiographic approaches to HCM, highlighting the associated complementary strengths and the value of integrated multimodality assessment in improving disease phenotyping, prognostication, and management. Importantly, integrating these modalities improves risk stratification for sudden cardiac death, heart failure progression, and arrhythmias, guiding decisions on implantable cardioverter-defibrillator (ICD) placement and medical management. This approach supports more personalized, mechanism-based care in HCM.