Heart - Cardiology & Cardiovascular Surgery

Cardiovascular Genetics

The Cardiovascular Genetics Program at Mount Sinai Heart is dedicated to evaluating, counseling, and treating patients and families with genetic heart 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 who have, or are 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. We work 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
  • Prognosis and treatment of cardiovascular genetic disorders
  • Genetic evaluation and counseling of at-risk relatives
  • 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, their families, and service providers.

Reasons for Referral

At Mount Sinai Heart, 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
  • Catecholaminergic polymorphic ventricular tachycardia
  • Sudden cardiac death/cardiac arrest

Our Research

In addition to providing 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. It also offers you, as a patient, the opportunity to participate in clinical trials, which are the very latest in cardiology health care.

Our most critical contributions to research 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.

Find a clinical trial