Author + information
- Received November 9, 2017
- Revision received February 20, 2018
- Accepted February 21, 2018
- Published online April 30, 2018.
- Jeffrey B. Geske, MD∗ (, )
- Steve R. Ommen, MD and
- Bernard J. Gersh, MB, ChB, DPhil
- ↵∗Address for correspondence:
Dr. Jeffrey B. Geske, Department of Cardiovascular Diseases, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905.
Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiomyopathy, manifesting as left ventricular hypertrophy in the absence of a secondary cause. The genetic underpinnings of HCM arise largely from mutations of sarcomeric proteins; however, the specific underlying mutation often remains undetermined. Patient presentation is phenotypically diverse, ranging from asymptomatic to heart failure or sudden cardiac death. Left ventricular hypertrophy and abnormal ventricular configuration result in dynamic left ventricular outflow obstruction in most patients. The goal of therapeutic interventions is largely to reduce dynamic obstruction, with treatment modalities spanning lifestyle modifications, pharmacotherapies, and septal reduction therapies. A small subset of patients with HCM will experience sudden cardiac death, and risk stratification remains a clinical challenge. This paper presents a clinical update for diagnosis, family screening, clinical imaging, risk stratification, and management of symptoms in patients with HCM.
Dr. Geske is a consultant for MyoKardia, Inc. Dr. Gersh is a consultant for MyoKardia, Inc., Janssen, Xenon Pharmaceutical, and Sirtex Medical; and is a data safety monitoring board member of Mount Sinai, St. Lukes, Boston Science Corp., Teva Pharmaceuticals, Janssen R&D, Kowa Research Inst., Duke University, and Medtronic. Dr. Ommen has reported that he has no relationships relevant to the contents of this paper to disclose.
- Received November 9, 2017.
- Revision received February 20, 2018.
- Accepted February 21, 2018.
- 2018 American College of Cardiology Foundation