The Present and Future
State-of-the-Art Review
Hypertrophic Cardiomyopathy: Present and Future, With Translation Into Contemporary Cardiovascular Medicine

https://doi.org/10.1016/j.jacc.2014.05.003Get rights and content
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Abstract

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.

Key Words

atrial fibrillation
cardiac surgery
echocardiography
genetics
heart failure
hypertrophic cardiomyopathy
implantable defibrillators
magnetic resonance imaging
sudden death

Abbreviations and Acronyms

ACC
American College of Cardiology
AF
atrial fibrillation
AHA
American Heart Association
CAD
coronary artery disease
CMR
cardiovascular magnetic resonance
ECG
electrocardiography
HCM
hypertrophic cardiomyopathy
HF
heart failure
ICD
implantable cardioverter-defibrillator
LGE
late gadolinium enhancement
LV
left ventricle
LVH
left ventricular hypertrophy
SD
sudden death

Cited by (0)

Dr. Barry J. Maron is a consultant for GeneDx.

All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.