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.

Cardiovascular conditions associated with aortic dilation, aortic aneurysm, and aortic dissection that may be genetic. (Aortic Disorders Clinic)

Structural heart disease and syndromic disorders, including:

  • 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 (for other specialty clinics caring for patients with tuberous sclerosis click here
  • Microdeletion/microduplication syndromes

Genetic rhythm disorders 

  • Long QT 
  • Brugada syndrome 
  • Arrhythmogenic right ventricular dysplasia (ARVD) 
  • Catecholaminergic polymorphic ventricular tachycardia (CPVT)  
  • TANGO2 mediated cardiac disease 

Cardiomyopathy 

  • 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 

Lipid Disorders 

  • Patients with genetic disorders of lipid metabolism are evaluated and treated by our Prevention team 

Postural Orthostatic Tachycardia Syndrome (POTS) 

  • Patients suspected to have Postural Orthostatic Tachycardia Syndrome (POTS) are evaluated and treated in our Syncope Clinic, operated the Electrophysiology team