Cardiovascular Genetics Program
The Cardiovascular Genetics Program at Mount Sinai Heart is staffed by a multidisciplinary team of pediatric and adult cardiologists, geneticists, and genetic counselors dedicated to evaluating and counseling patients and families with genetic-based cardiovascular diseases.
Our expert physicians diagnose, prevent, and treat inherited cardiac defects. Highly specialized molecular tests like genetic linkage, collagen synthesis, and FISH analysis are used to identify patients affected with or at risk for specific cardiovascular diseases.
From pre-conception counseling and fetal echocardiography to treatment of inherited disorders, our specialists are available to work with patients, families, and referring physicians to provide comprehensive services.
Our cardiovascular genetic research is using leading edge approaches based on the Human Genome Project to identify additional genes causing these disorders. Our important discoveries include the Marfan syndrome gene and a gene for inherited patent ductus arteriosus. These and other scientific advances are providing the means to improve care for families inheriting cardiovascular genetic disorders.
For patients and their families, we provide:
- Comprehensive cardiovascular genetic evaluation.
- Access to state-of-the-art diagnostics (including DNA-based testing when applicable).
- Detailed information about the prognosis and treatment of cardiovascular genetic disorders.
- Genetic counseling about the risks to future offspring, siblings, and others.
- Planning for the evaluation of at-risk family members.
- Access to cardiovascular genetic research (DNA extraction/storage, linkage studies, etc.).
The Cardiovascular Genetics Program works closely with patients and their referring physicians to provide rapid and detailed reporting of genetic evaluations and testing, collaboration in medical and surgical management if desired, high-risk obstetrical management and fetal cardiology for cardiovascular genetic disorders. We also furnish educational materials and resources for interested patients and service providers.
Reason for Referral
The Cardiovascular Genetics Program provides services to patients and their families who are concerned about the following inherited conditions, among others:
- Marfan syndrome
- Ehlers-Danlos syndrome
- Annuloaortic ectasia
Congenital heart defects and syndromes
- Velocardiofacial/DiGeorge syndromes
- Noonan syndrome
- Heterotaxy syndrome
Inherited heart muscle diseases
- Dilated cardiomyopathy
- Hypertrophic cardiomyopathy
- Right ventricular dysplasia
Familial rhythm disorders
- Long QT syndrome
- Brugada syndrome
Metabolic heart diseases
- Mitochondrial diseases
- Fatty acid oxidation defects
- Lysosomal storage diseases