Hypertrophic Cardiomyopathy Center of Excellence
The UCSF HCM Center of Excellence strives to advance treatment and biomedical discovery for Hypertrophic Cardiomyopathy through a fourfold mission of education, research, patient care and public service.
This program is led by Drs. Roselle and Ted Abraham, who have over 35 years of HCM management experience between them. The UCSF HCM Center of Excellence offers cutting-edge clinical evaluation, state of the art imaging, modern testing, and innovative therapies to HCM patients and their families in a single-center, convenient setting.
Roselle Abraham, MD
Center Director (clinical HCM, consultative electrophysiology)
Theodore Abraham, MD
Center Co-Director (clinical HCM, cardiac imaging)
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Hypertrophic cardiomyopathy (HCM) is an inherited heart disorder characterized by an abnormally thickened heart. It affects approximately 1 in 500 people in the United States. HCM is caused by mutations in genes that make up the structural proteins of heart muscle. Typically, a patient has a 50% chance of having the condition if a first-degree relative (parent, sibling, or child) has it.
People with HCM may experience palpitations, chest pain, shortness of breath, or syncope (fainting). They also carry a higher risk of stroke and sudden death than the general population. In fact, HCM is among the top causes of sudden death in young athletes. HCM symptoms and complications arise from blockage of blood flow out of the heart by the thickened heart muscle and by a loss of the normal organization of the heart muscle cells. These problems put people with HCM at risk of unstable heart rhythms including atrial fibrillation and ventricular tachycardia.
Diagnosing HCM can be challenging because there are other reasons for a thickened heart, including engaging in heavy athletic activity and having high blood pressure. HCM experts can help distinguish these conditions, which is essential to helping predict risk of the more severe complications.
Treatment for HCM is recommended for people with symptoms and consists of medications (beta-blockers, calcium channel blockers, and an antiarrhythmic drug called disopyramide) that reduce the vigorous contractions of the heart. If these medications fail to control symptoms, more invasive procedures can be performed to remove some of the obstructing heart muscle. This is either carried out in the cardiac catheterization laboratory or in the operating room. If a patient is thought to be at high risk of sudden death, a defibrillator is sometimes implanted by an electrophysiologist.
Over 10 different genes have been associated with HCM and mutations in these genes are responsible for about one half to two thirds of families with the condition. We expect to identify more genes responsible for HCM as our knowledge in cardiac genetics improves over time.
Most often, HCM is inherited in an autosomal dominant manner. This means that each child of a parent with HCM has a 50% chance of inheriting the genetic mutation associated with the condition. The genetic mutation does not skip generations. However the condition may appear to skip generations because some people carry the genetic mutation for HCM but have a normal EKG and no symptoms. Even if a person with the genetic mutation does not have symptoms or an abnormal EKG, they can still pass the gene mutation to their children and their children could develop symptoms. The chance of inheriting the gene mutation is the same for men and women. Many people who inherit the genetic mutation will never have any health problems related to HCM syndrome.
Genetic testing can be done to try to identify the genetic mutation causing HCM so other family members can have genetic testing to determine their risk for abnormal heart rhythms associated with the condition. The results of genetic testing can sometimes be useful in medical management for individuals with HCM, although genetic test results typically don’t affect medical treatment.
Since HCM syndrome is a genetic condition, the family members of someone who has the condition may be at risk of developing the abnormal heart rhythms, fainting or sudden death. Close relatives (parents, siblings, and children) of someone with HCM should be evaluated for the condition by consulting a cardiologist familiar with HCM or through genetic testing if the gene mutation associated with the condition in the family has been found.
Individualized recommendations should be made with the help of a cardiologist. In general, individuals with HCM should avoid becoming dehydrated and taking medications that lower blood pressure. Since fainting and sudden death can take place during or after vigorous exercise, people with HCM should talk with a cardiologist about what activities are safe or not safe. It’s a good idea for people with HCM syndrome to wear a medical alert necklace or bracelet.
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