Cardiovascular Genetic Medicine
In genetic medicine, information encoded within one’s genes is used in the diagnosis and management of diseases. As our understanding of the role that genes play in human disease continues to grow, we find that genetic medicine may allow physicians to delay or even prevent disease development. Genetic information may also be used to determine which medications will lead to the most effective treatment for an individual and which medications will cause side effects and should be avoided.
The mission of the Cardiovascular Genetic Medicine Program of the University of Miami Miller School of Medicine is to provide the community with a comprehensive set of tools and resources that allow our team to evaluate, diagnose and manage genetic cardiovascular disorders. Our team includes cardiologists, nurses, certified genetic counselors and researchers who can offer comprehensive care for patients and their families with known or suspected cardiovascular genetic disease. We provide access to clinical genetic testing, cutting edge research and educational resources. This broad spectrum allows us to address both the clinical and research aspects of genetic disorders.
From a clinical perspective, we have core competencies in the evaluation and management of so called single gene disorders. These are diseases primarily resulting from alterations in a single gene. These include many disorders that cause the heart muscle to weaken, also known as cardiomyopathies as well as disorders that cause alterations in the normal heart rhythm, arrhythmias. To evaluate and manage a wide spectrum of cardiovascular disorders, we have a full complement of cardiovascular subspecialists in cardiovascular genetics, advanced heart failure and transplant cardiology, electrophysiology, and interventional cardiology. We have certified genetic counselors to assist with interpreting test results and educational support for patients and their families. As well, we provide the full gamut of clinical genetic testing.
Key areas of expertise include diseases the affect the heart muscle called cardiomyopathy. These include dilated and hypertrophic cardiomyopathy, arrhythmogenic right ventricular dysplasia, and familial restrictive cardiomyopathy. We also have expertise in genetic arrhythmias, also known as channelopathies. These include the long QT syndrome and related disorders, including the short QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and others. Our doctors have expertise in diagnosis and treatment of these disorders, including alchohol septal ablation for hypertrophic cardiomyopathy.
Another facet of the Cardiovascular Genetic Medicine program is the active research being conducted by the faculty into complex cardiovascular disorders. These complex disorders result from the interaction between environmental factors, such as diet and smoking, and an individual’s genes. Unlike single gene disorders, complex genetic disorders arise from the simultaneous contribution of many genes. These complex cardiovascular diseases include common disorders such as coronary artery disease and atrial fibrillation. There are active research programs at the University of Miami School of Medicine that are seeking to identify the key complement of genes that contribute to these cardiovascular diseases, in particular coronary heart disease and peripheral vascular disease. Knowledge of these genes will lead to new types of genetic tests that can assess an individual’s risk for disease development and, subsequently, for more effective treatment strategies to delay or even prevent the disease altogether.
The Cardiovascular Genetic Medicine program provides consultation and management for patients with complex cardiovascular diseases such as coronary artery disease, particularly those patients with a strong family history of disease. Patients will have access to the latest advances in cardiovascular genetics testing that result from ongoing research programs at the Cardiovascular Division.
The Cardiovascular Genetic Medicine program is most appropriate for patients and families with the following:
- Personal or family history of a known or suspected cardiomyopathy (e.g. dilated cardiomyopathy, hypertrophic cardiomyopathy, arrhythmogenic right ventricular dysplasia, familial restrictive cardiomyopathy) or channelopathy (e.g., long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia),
- Family history of sudden cardiac death, angina, syncope, heart failure, coronary artery disease, or aortic aneurysm,
- Heart failure, coronary artery disease, or sudden unexpected death in a young individual,
- Onset of heart disease around the time of pregnancy,
- Individuals with a history of heart disease suggestive of a genetic etiology,
- Heart disease in adolescents or adults with birth defects and/or developmental delay/mental retardation (syndromic cardiovascular genetic disease, e.g. Fabry, Marfan, Holt Oram, 22q deletion syndrome), and
- Family history of syndromic cardiovascular genetic disease (e.g. female carriers of Duchenne muscular dystrophy) or congenital heart disease.
If you are a patient who is interested in a consultation, please contact us at (305) 243-5554.
If you are a physician, please call our Cardiology Access Line at (305) 243-8300 so that we can direct you to one of our faculty Doctors.