Hypertrophic Cardiomyopathy and Genetics

In this recorded Facebook Live, Steven J. Lester, M.D., talks about hypertrophic cardiomyopathy (HCM), an inheritable disorder affecting the heart. Visit http://www.mayoclinic.org/diseases-co... for more information on hypertrophic cardiomyopathy.

HCM is a genetic disorder. The most common of cardiac myopathies, HCM is thought to be prevalent in 1 out of 500 individuals. The disease may be inherited from a mother or father or an individual may be the first person in his or her family to create this abnormal gene. Not everyone with the abnormal gene will express the gene, meaning that the walls of the heart thicken. Only about 15% of individuals with HCM have been formally diagnosed. It may appear in childhood or adulthood. Most people are unaware of the disease and do not exhibit symptoms. Some people may exhibit symptoms including chest pain, shortness of breath, dizziness, fatigue, or palpitations.

Dr. Lester also discusses HCM disease-management strategies. The first pillar of support is family screening. Molecular genetic testing is one way of identifying HCM in family members. Additional screening includes echocardiographic imaging of the heart. The second pillar of support includes identifying individuals who may be at risk for sudden cardiac death. Those individuals may consider implantation of cardiac defibrillator device to prevent sudden cardiac death from abnormal heart rhythms. The other pillar of support is trying to improve symptoms and quality of life. These include avoiding dehydration, minimizing exercise following meals, and avoiding alcohol. Medications may also help patients with obstructive HCM including beta blockers or calcium channel blockers to improve blood flow. For some patients, surgery may be an option to relieve symptoms impairing quality of life.

At Mayo Clinic, multidisciplinary teams of experts work together on complex heart conditions including hypertrophic cardiomyopathy. Using the latest in medical innovations and research, these teams include cardiologists, cardiac surgeons, cardiac imaging specialists, and genetic counselors.