Cardiovascular Genetics Program

Programs and Services

Precision diagnosis of individuals suspected to have genetically-determined cardiovascular disease, including rare and undiagnosed conditions. Evaluation and management of cardiovascular disorders in patients with identified genetic disorders or genetic results suspected to affect the cardiovascular system.


A lifelong medical home to people with Williams syndrome, a genetic condition that affects nearly every organ system and can cause mild to severe cardiovascular abnormalities.

The Genetic Aortic Disorders Clinic focuses on children with genetic conditions associated with aortic dilation, aortic aneurysm and aortic dissection.


Cardiovascular conditions associated with aortic dilation, aortic aneurysm, and aortic dissection that may be genetic.

  • Marfan Syndrome 
  • Vascular Ehlers-Danlos syndrome (EDS type IV) 
  • Loeys-Dietz-syndrome 
  • Turner syndrome 
  • Bicuspid aortic valve 
  • Familial thoracic aortic aneurysms and dissection (FTAAD) 
  • Arterial tortuosity syndrome 
  • FLNA arteriopathy 
  • Myhre syndrome 
  • FBLN4/EFEMP2/Cutis laxa, autosomal recessive, type IB 
  • Williams-Beuren syndrome,  ELN arteriopathy, and chromosome 7q11.23 Duplication syndrome 
  • Alagille syndrome 
  • Chromosomal disorders 
  • DiGeorge Syndrome/ 22q11.2 deletion syndrome 
  • Kabuki syndrome 
  • Fragile X 
  • Holt-Oram Syndrome 
  • Noonan Syndrome and related disorders (RASopathies) 
  • Potocki-Lupski Syndrome (17p11.2 duplication) 
  • Tuberous Sclerosis
  • Microdeletion/microduplication syndromes
  • Long QT 
  • Brugada syndrome 
  • Arrhythmogenic right ventricular dysplasia (ARVD) 
  • Catecholaminergic polymorphic ventricular tachycardia (CPVT)  
  • TANGO2 mediated cardiac disease 
  • Disorders of the myocardium, including hypertrophic cardiomyopathy, restrictive cardiomyopathy, dilated cardiomyopathy, left ventricular non-compaction and metabolic cardiomyopathy are evaluated and treated by our Cardiomyopathy and Heart Failure service 
  • Patients with muscular dystrophy are evaluated and treated by our Cardiomyopathy and Heart Failure service 
  • Patients with genetic disorders of lipid metabolism are evaluated and treated by our Preventionteam 
  • Patients suspected to have Postural Orthostatic Tachycardia Syndrome (POTS) are evaluated and treated in our Syncope Clinic, operated the Electrophysiology team