Cardiovascular Genetics Center
As a regional and national leader in cardiovascular genetics, UPMC offers patients and their families with inheritable cardiovascular disorders access to testing, diagnosis, treatment and genetic counseling to assist them with every aspect of care and treatment, as well as resources and information related to basic and clinical research in these areas.
Clinical Services
The CVI Cardiovascular Genetics Center houses an outpatient center at UPMC Presbyterian offering consultative services to providers caring for patients with a family history of inheritable cardiovascular disorders and their at-risk relatives. These disorders include, but are not limited to:
- hypertrophic cardiomyopathy (HCM)
- dilated cardiomyopathy (DCM)
- arrhythmogenic right ventricular dysplasia (ARVD)
- glycogen storage cardiomyopathy
- Wolff-Parkinson-White Syndrome (WPW)
- long QT syndrome (LQTS)
- Brugada syndrome
- other familial arrhythmias
- familial aortic aneurysms (FAA)
- Marfan syndrome
- congenital heart disease
Patients and their at-risk relatives have access to a wide range of diagnostic and treatment services, including:
- echocardiography
- electrophysiological testing and device therapy
- magnetic resonance imaging (MRI)
- nuclear cardiology
- interventional cardiology
- heart failure management and cardiac transplantation
- cardiac surgical intervention, including septal myectomy and valve surgery
- molecular genetic testing
- risk stratification for sudden cardiac death
- genetic counseling
Testing is particularly important for undiagnosed biological relatives of affected individuals. When molecular genetic testing for specific disorders is available, these services are offered to assist in diagnosis, prognostication, and treatment. When molecular genetic testing is unavailable on a clinical basis, patients may have access to genetic screening through the CVI Cardiovascular Genetics Center research program. All available information is used in estimating each patient or relative’s risk for sudden cardiac death. Following clinical evaluation, treatment strategies are recommended as appropriate for the severity of the disorder as evident by clinical and/or genetic testing in each individual.
A diagnosis of a genetic disorder can have a major impact on both the patient and his or her relatives, particularly on decisions regarding testing of clinically unaffected family members, marriage, and childbearing. A genetic counselor meets with patients and their relatives to discuss the genetic implications of such a diagnosis.
Because the CVI Cardiovascular Genetics Center serves primarily as a consultative service, patients generally continue to receive ongoing care from the referring provider. However, follow-up consultations and close communication with referring providers are maintained to provide ongoing assistance in the management of each patient.
Patient Referrals
Patients being referred by their health care providers for consultation at the CVI Cardiovascular Genetics Center may call 412-647-6000 for an appointment. Patients should bring their medical records to their first visit, or have them faxed to the Center at 412-647-4227 prior to their appointment. It is helpful for patients to collect information about their family history, such as a history of anyone (parents, siblings, aunts, uncles, grandparents, cousins, children) with a heart condition or other medical problem, any sudden deaths, any unexplained deaths, results of any heart screening on close family members, and autopsy results.
Research Activities
An extensive basic and clinical research program investigating the genetic mechanisms of cardiovascular disorders is ongoing within the CVI Cardiovascular Genetics Center.