Pathogenesis, screening, and diagnosis of hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy is a common heritable heart disease. The disease is genetically, anatomically, and clinically heterogeneous. Hypertrophic cardiomyopathy is inherited in an autosomal dominant pattern but has allelic heterogeneity, incomplete penetrance, and variable expressivity. Beyond family screening, clinical evaluation for hypertrophic cardiomyopathy is often prompted by identification of symptoms or detection of a heart murmur, additionally, abnormal electrocardiogram or imaging results performed for another reason can provide evidence. Evaluation should include obtaining a patient’s history, a physical examination, cardiac imaging, and, often, genetic testing. Prognosis is variable; major causes of morbidity and mortality are caused by sudden cardiac death, heart failure, and atrial fibrillation with associated stroke risk. An understanding of the pathogenesis at the genetic, cellular, and individual levels helps clinicians to implement appropriate screening, recognise clinical manifestations, and improve the treatment of patients with hypertrophic cardiomyopathy. The understanding of this condition is evolving, with recent advances and insights into its pathogenesis, refinement of risk stratification, and use of artificial intelligence in screening, diagnosis, and prognostication.