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.
Services
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)
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
