Cardiovascular Genetics Center

Overview of Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder characterized by unexplained left ventricular hypertrophy (increased muscle thickness), myocyte disarray (disorganized cardiac cells) and fibrosis (see Figure A, below). It is the most common heritable cardiovascular disorder with an estimated prevalence of 1/1000 in the general population.

View an echocardiogram of a heart with Hypertrophic Cardiomyopathy (HCM).

Genetic studies have defined HCM as a disease of the sarcomere, with more than 400 mutations identified in 11 different components of the contractile apparatus of the heart.  Although most individuals with HCM do well with appropriate treatment, this condition can be associated with an increased risk for progressive heart failure and sudden death.   

Illustration of the sarcomere (Kamisago, M. et al. N Engl J Med.

2000; 343:1688-96. Copyright 2000 Massachusetts Medical Society.

All rights reserved.)

Diagnosis, Management and Treatment of Hypertrophic Cardiomyopathy (HCM)
An integrative approach is essential for optimal management of patients and families with hypertrophic cardiomyopathy, with particular attention to unique features of this disorder. Our multidisciplinary clinic provides:

• Individualized care plans
• Genotypic analysis to allow for definitive diagnosis
• Comprehensive evaluation of affected individuals (cardiac imaging, exercise testing, surveillance for heart rhythm disturbances)
• Hypertrophic Cardiomyopathy (HCM) Family Screening
• Stratification regarding risk for sudden cardiac death
• Implantable Cardioverter Defibrillator and pacemaker therapy
• Alcohol septal ablation for treatment of refractory obstrusive Hypertrophic Cardiomyopathy (HCM)
• Surgical septal myectomy/myotomy for treatment of refractory obstrusive Hypertrophic Cardiomyopathy (HCM)
• Management of end-stage heart failure, including cardiac transplantation

Make an Appointment in the Hypertrophic Cardiomyopathy Clinic
To make an appointment in the HCM Clinic call:  617-732-4837

Hypertrophic Cardiomyopathy Research Opportunities
Click here to find clinical trials related to HCM.

Learn More About Hypertrophic Cardiomyopathy

• Basic Genetics of Hypertrophic Cardiomyopathy (HCM)
• Hypertrophic Cardiomyopathy (HCM) Clinic Brochure (PDF)
• Hypertrophic Cardiomyopathy (PDF)
• Hypertrophic Cardiomyopathy: A Patient Perspective (PDF)

• From One Generation to the Next: Geneticists are Zeroing In on Treatments for Inherited Heart Disorders, including HCM

Living with Hypertrophic Cardiomyopathy (videos from May 3, 2008 workshop)

• What is Hypertrophic Cardiomyopathy- Carolyn Ho, MD
• Genetics of HCM - Allison Cirino, MS, CGC
• Children with HCM - Steven Colan, MD
• Living Well with HCM - Libby Sparks, MS
• Medical Therapy of Hypertrophic Cardiomyopathy - Akshay Desai, MD
• Arrhythmias and ICD Therapy - Michael Sweeney, MD
• Hypertrophic Cardiomyopathy-What Does the Future Hold? Christine Seidman, MD
• What to do about Obstruction - Pinak Shah, MD