Carolyn Ho, MD, Medical Director of the Cardiovascular Genetics Center at Brigham and Women’s Hospital (BWH), discusses the role of genetics in the development of heart diseases such as hypertrophic cardiomyopathy, familal dilated cardiomyopathy, inherited arrythmias, inherited sudden deaths, Marfan syndrome and other diseases that affect the aorta.
The BWH Cardiovascular Genetics Center evaluates and treats patients and families with a variety of inherited heart conditions. An important, distinguishing feature of inherited heart disease is that care extends beyond individual patients to family members who may also be at risk for developing the same condition.
One area of focus at the BWH Cardiovascular Genetics Center is hypertrophic cardiomyopathy (HCM), an inherited heart muscle disease where the heart muscle becomes too thick or hypertrophied. HCM is one of the most common genetic heart diseases. It’s present in about one in 500 to about one in 1,000 people in the general population.
Groundbreaking research conducted at BWH led to the discovery that mutations or changes in the genes that make up a structure called the sarcomere actually cause hypertrophic cardiomyopathy.
Most people with HCM have manageable symptoms and live a normal life expectancy but there can also be very serious consequences of the disease. For example, patients with HCM are at higher risk for suffering sudden cardiac death and having dangerous arrhythmias than people in the general population. There is also a subset of patients with HCM who can develop refractory heart failure. Current HCM treatments can only ease disease symptoms.
Cardiomyopathy experts in the BWH Cardiovascular Genetics Center at Brigham and Women’s Hospital are now leading an international trial investigating the benefits of therapy given in early in the development of HCM. The multicenter trial aims to alter the course of hypertrophic cardiomyopathy and by offering a targeted treatment approach to patients with sarcomere mutations.
Learn more about the Cardiovascular Genetics Center at Brigham and Women’s Hospital.
Read the Advancing Care for Inherited Heart Disease video transcript.