Cardiovascular Genetics Program:
The Cardiovascular Genetics Program at Yale School of Medicine, directed by Arya Mani, MD, was established in 2010 to provide care for patients and families who are suspected of having inherited cardiovascular disease. The program has both clinical and research interests.
Clinical Cardiovascular Genetics Program:
From a clinical perspective, the Cardiovascular Genetics Program works with individuals and their families who may be at risk for developing cardiovascular disease because of genetic factors. The genetic counselor, Emily Smith, MS, CGC, works alongside Dr. Mani to evaluate family history, establish the clinical diagnosis, offer genetic testing, provide risk assessment, and consider treatment options. The conditions seen in clinic include:
- Inherited cardiomyopathies
- Inherited heart rhythm disorders including Long QT syndrome, Brugada, CPVT, ARVD and sudden cardiac death
- Inherited vascular conditions such as early onset familial forms of coronary artery disease, inherited syndromic and nonsyndromic disease of the aorta, such as Marfan syndrome and other connective tissue diseases.
- Inherited lipid disorders
- Inherited vascular disease
- Congenital heart disease in adults
The program has established the first clinical center using whole exome sequencing for identification of established as well as novel disease genes.
Basic Cardiovascular Genetics Program:
The investigative genetics arm of the program focuses on genetic evaluation of premature atherosclerosis, metabolic syndrome, and adult congenital disorders, particularly bicuspid aortic valve and patent ductus arteriosus.
The Program for Cardiovascular Genetics is multidisciplinary in nature, working with general and interventional cardiologists, cardiomyopathy and heart failure group, electrophysiologists, echocardiographers, genetic counselors, nurses, primary care physicians, and research scientists to provide care.