Hypertrophic Cardiomyopathy (HCM)
What is Hypertrophic Cardiomyopathy?
Hypertrophic Cardiomyopathy is type of heart disease that causes an abnormal thickening of the heart muscle. The abnormal thickening of the heart muscle can occur in different areas of the heart muscle and can lead to different symptoms in every person. The thickened heart muscle is most commonly seen in the lower pumping chamber of the heart (left ventricle) which can cause obstruction of blood flow and also lead to heart muscle stiffness, leaking valves and abnormal heart function.What are Symptoms of Hypertrophic Cardiomyopathy?
- Palpitations
- Shortness of breath
- Fatigue
- Chest pain
- Abnormal heart rhythms (sudden cardiac death)
- Passing out
Causes and Risk Factors of Hypertrophic Cardiomyopathy
Some people can have a heart murmur that can be found during a physical exam. This is related to the abnormal blood flow moving through the heart.
How is HCM diagnosed?
This most common initial evaluation is with an echocardiogram (ultrasound of the heart) to assess the heart muscle thickness, heart valves and overall heart function. At times, further testing is needed to confirm your diagnosis which can include a heart rhythm monitor, stress test or cardiac MRI.
Treatment of Hypertrophic Cardiomyopathy
At MUSC Health our doctors are the most experienced in the state in performing interventions for HCM including alcohol septal ablations and surgical myectomy, and medical therapies including the newest class of medications, cardiac myosin inhibitors, called mavacamten.
What to expect during my visit?
- Meet with one of our HCM experts to discuss your diagnosis and answer your questions related to HCM and your care.
- Review your tests results and discuss if further evaluation or tests are needed.
- Discuss medical therapy and surgical options that may be considered to treat your heart condition.
- Some patients may require an ICD (implantable defibrillator) if they have significant abnormal heart rhythms. We may refer you to one of our electrophysiologist (heart rhythm specialists) for their expert opinion.
- We also often recommend genetic testing for HCM. You may meet with one of our genetic counselors to discuss genetic testing for your heart condition
Why should I consider genetic testing?
We will also discuss genetic testing, as this heart condition is often due to abnormal genes (DNA) and can run in families. Our genetic counselors will meet with you to review your family history and discuss the process of genetic testing. If an abnormal gene is found, we can help to determine if this condition is carried in other family members.
Why choose MUSC for HCM Care?
- Depth of experience: MUSC Health is South Carolina's only academic medical institution. Our education program comes with a commitment to knowing and teaching the latest techniques. Our doctors are the most experienced at performing interventions such as including alcohol septal ablation (ASA) and surgical myectomy.
- Extensive, comprehensive treatment options:
- Newest medical therapies for HCM including cardiac myosin inhibitors, called mavacamten.
- Septal reduction therapy for HCM including surgical myectomy and alcohol septal ablation.
- Advancing innovation: extensive clinical trials program offers leading-edge treatments that aren't available at all medical centers. For more information, visit the Heart & Vascular Clinical Trials page or the MAPLE-HCM website.
- Collaborative, team-based approach: Our HCM team actively collaborates with specialists including advanced heart failure, interventional cardiology, cardiothoracic surgery, electrophysiology, cardiac genetics.
Hypertrophic Cardiomyopathy
100+
New patients treated annually
~30
Alcohol septal ablations performed annually
~8
Myectomies performed annually
The HCM Team at MUSC
Jessica Atkins, M.D.
Assistant Professor
Jan Griffin, M.D.
Associate Professor
Christopher D. Nielsen, M.D.
Interventional Cardiology
Valerian L. C. Fernandes, M.D.
Professor
Medicine - Division of Cardiology
Professor - Division of Cardiology
Biography
Dr. Valerian Fernandes received his MBBS degree from St. John's Medical College, Bangalore in 1989 and his post graduate M.D. (internal medicine) degree from Post-Graduate Institute of Medical Education and Research (PGIMER) Chandigarh, India in 1992. He received his MRCP degree in 1994 (Member of Royal College of Physicians-UK). In the U.S. he did his internship at St. Luke-Roosevelt Hospital in New York and completed his internal medicine residency at the Mayo Clinic, Rochester, Minnesota in 1997. His cardiology and interventional cardiology fellowship training was done at the Baylor College of Medicine, Houston, Texas from 1997 to 2001. Since his training, he has been on the MUSC faculty as an assistant professor of medicine and as a staff physician and director of the cardiac catheterization laboratories at the Ralph H. Johnson VA Medical Center.
Dr. Fernandes is board certified in cardiovascular disease and interventional cardiology. He is level III echocardiography trained and certified and also level II nuclear cardiology trained and certified. Dr. Fernandes' clinical and research interests include complex coronary interventions, rotational atherectomy, vulnerable plaque evaluation and treatment, acute coronary syndromes, alcohol septal ablation for hypertrophic obstructive cardiomyopathy, peripheral arterial intervention and Doppler and transesophageal echocardiography. He is the only certified percutaneous mitral valvuloplasty practitioner in the state of South Carolina. Dr. Fernandes has been a principal investigator in several trials and has also co-authored many publications. He is very active in teaching and medical education and has received many teaching awards and nominations. He is a reviewer for medical journals and a fellow of the American College of Cardiology.
Research Profile
Dr. Fernandes’ clinical and research interests include complex coronary interventions, rotational atherectomy, vulnerable plaque evaluation and treatment, acute coronary syndromes, alcohol septal ablation for hypertrophic obstructive cardiomyopathy, peripheral arterial intervention and Doppler and transesophageal echocardiography. He is the only certified percutaneous mitral valvuloplasty practitioner in the state of South Carolina.
Dr. Fernandes has been a principal investigator in several trials and has also co-authored many publications.
Publications:
PubMed Collection
Senior Author Publications:
Senior Author PubMed Collection (senior author publications are most often associated with mentored projects)
David Gregg, M.D.
Program Director
Stephanie S. Gaydos, M.D.
Assistant Professor
Undergraduate: Indiana University
Medical School: Southern Illinois University
Residency: Medical University of South Carolina
Fellowship: Medical University of South Carolina
Specialty: Adult Congenital Heart Disease
Rochelle Judd, MSN
Adult Congenital Nurse Practitioner
Michael R. Gold, M.D., Ph.D.
Professor
Michael Assey Chair in Cardiology
Daniel P. Judge, M.D.
Edwin W. &Teresa H. Rogers Endowed Chair for Cardiovascular Research, and Professor
Medicine - Division of Cardiology
Program Director General Cardiology, Cardiovascular Genetics
Edwin W. &Teresa H. Rogers Endowed Chair for Cardiovascular Research, and Professor - Division of Cardiology
Biography
As a cardiologist and translational scientist, my research is focused on monogenic forms of cardiovascular disease, with particular emphasis on heart failure. I am the Director of the MUSC Cardiovascular Genetics program and the fellowship director for Cardiovascular Disease at MUSC. My post-doctoral research at Johns Hopkins University was focused on the molecular pathogenesis and translational treatments for Marfan syndrome and other inherited aortic diseases. For the past fifteen years, my research program has focused on the genetic basis and pathogenesis of inherited heart disease, with translational research trials investigating novel therapies targeting key factors involved with disease pathogenesis.
Research Profile
The Judge lab focuses on inherited cardiovascular disorders, investigating their genetic basis and molecular pathogenesis, in order to identify better therapies for people with these conditions. There are three major areas of investigation:
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Arrhythmogenic Cardiomyopathy – This inherited form of cardiomyopathy is often caused by mutations in genes encoding cardiac desmosomes, which form junctions between cardiomyocytes. We developed a murine model to serve as platform for studies on this familial form of heart disease. Current projects seek to identify the role of aerobic exercise in worsening this condition, as well as to identify better treatments to prevent fibro-fatty scar formation in the heart.
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Transthyretin (TTR) Amyloidosis – TTR is a protein produced in the liver, circulating in blood as a carrier protein for thyroid hormone and retinol (vitamin A). Mutations in this gene cause the protein to misfold and deposit in the heart and elsewhere as insoluble amyloid plaques. A wild-type form of this disease occurs without mutations in TTR, and very little is known about its pathogenesis.
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Familial Mitral Valve Prolapse – Our prior work demonstrated that increased TGF-beta signaling contributes to abnormal growth of the mitral valve leaflets. In collaboration with investigators in the MUSC Department of Regenerative Medicine and Cell Biology, we are investigating genetic factors that contribute to this common form of heart disease.
Lucas Witer, M.D.
Cardiothoracic Surgery
Tiffani Ross, BSN, RN
Nurse Coordinator
