Contemporary management strategies, including ICDs and surgical myectomy, have transformed hypertrophic cardiomyopathy into a treatable disease with a disease-related mortality rate of <1% per year.
Advances in diagnosis and treatment have transformed hypertrophic cardiomyopathy into a treatable disease with a disease-related mortality rate of <1%/year.
Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease with diverse phenotypic and genetic expression, clinical presentation, and natural history. HCM has been recognized for 55 years, but recently substantial advances in diagnosis and treatment options have evolved, as well as increased recognition of the disease in clinical practice. Nevertheless, most genetically and clinically affected individuals probably remain undiagnosed, largely free from disease-related complications, although HCM may progress along 1 or more of its major disease pathways (i.e., arrhythmic sudden death risk; progressive heart failure HF due to dynamic left ventricular LV outflow obstruction or due to systolic dysfunction in the absence of obstruction; or atrial fibrillation with risk of stroke). Effective treatments are available for each adverse HCM complication, including implantable cardioverter-defibrillators (ICDs) for sudden death prevention, heart transplantation for end-stage failure, surgical myectomy (or selectively, alcohol septal ablation) to alleviate HF symptoms by abolishing outflow obstruction, and catheter-based procedures to control atrial fibrillation. These and other strategies have now resulted in a low disease-related mortality rate of <1%/year. Therefore, HCM has emerged from an era of misunderstanding, stigma, and pessimism, experiencing vast changes in its clinical profile, and acquiring an effective and diverse management armamentarium. These advances have changed its natural history, with prevention of sudden death and reversal of HF, thereby restoring quality of life with extended (if not normal) longevity for most patients, and transforming HCM into a contemporary treatable cardiovascular disease.
Maron et al. (2014) conducted a review in Hypertrophic cardiomyopathy. Contemporary management strategies, including ICDs and surgical myectomy, have transformed hypertrophic cardiomyopathy into a treatable disease with a disease-related mortality rate of <1% per year.