Cardiovascular Genetics Program

We are dedicated to evaluating, counseling, and treating patients and families with genetic-based cardiovascular diseases. Our multidisciplinary team includes pediatric and adult cardiologists, medical geneticists, and a genetic counselor. We use highly specialized molecular tests such as next generation sequencing, microarray and exome testing, to identify patients affected with, or at risk for, specific cardiovascular diseases.

Our Services

We provide a range of comprehensive services, from pre-conception counseling and fetal echocardiography to medical therapy, working with patients, families, and referring physicians. Our services include:

  • Comprehensive evaluations, including echocardiography and other cardiovascular imaging
  • State-of-the-art diagnostics, such as DNA-based testing
  • Detailed information about the prognosis and treatment of cardiovascular genetic disorders
  • Genetic counseling and identification of at-risk relatives
  • Evaluation of at-risk family members
  • Counseling regarding reproductive options, such as prenatal testing and pre-implantation genetic diagnosis
  • Information on the latest cardiovascular genetic research

We also provide educational materials and resources for interested patients and service providers.

Reasons for Referral

We help patients and families who are concerned about the following conditions, among others:

Aortic and vascular diseases

  • Marfan syndrome
  • Ehlers-Danlos syndrome
  • Loeys-Dietz syndrome
  • Familial thoracic aortic aneurysm and/or dissection
  • Hereditary hemorrhagic telangiectasia

Congenital heart defects and syndromes

  • Chromosome abnormalities and microdeletions including 22q11.2 deletion syndrome
  • Noonan syndrome and related syndromes
  • Heterotaxy syndrome
  • Alagille syndrome

Inherited heart muscle diseases

  • Hypertrophic cardiomyopathy
  • Dilated cardiomyopathy
  • Left ventricular non-compaction cardiomyopathy
  • Arrhythmogenic right ventricular dysplasia/cardiomyopathy

Familial rhythm disorders

  • Long QT syndrome
  • Brugada syndrome
  • Catechoaminergic polymorphic ventricular tachycardia (CPVT)
  • Sudden cardiac death/cardiac arrest

Our Research

Not only do we provide clinical services, we also conduct groundbreaking research to identify the genetic basis for cardiovascular conditions, which will ultimately improve diagnosis and care for those with genetic disorders.

Our most critical contributions include identifying the genes for Noonan syndrome (PTPN11, SOS1, RAF1, SHOC2) as well as one of the genes for inherited patent ductus arteriosus. We have also participated in clinical trials for cardiovascular genetic disorders such as Marfan syndrome.

Our Team

Our multidisciplinary team enables us to perform such critical diagnosis, care, and research. Our team includes:

Bruce Gelb, MD 
Professor, Pediatrics and Genetics and Genomic Sciences
Co-director, Cardiovascular Genetics Program

Lakshmi Mehta, MD
Professor, Genetics and Genomic Sciences and Pediatrics
Co-director, Cardiovascular Genetics Program

Amy Kontorovich, MD, PhD  
Assistant Professor, Cardiology
Medical Director, Adult Cardiovascular Genetics

Harold Bernstein, MD, PhD
Adjunct Professor, Pediatrics

Meghan MacNeal, MS, MPH, CGC
Genetic Counselor, Cardiovascular Genetics Program

Contact Us

Cardiovascular Genetics Program
One Gustave L. Levy Place
New York, NY 10029-6574

Tel: 212-241-0424 or 212-241-8662