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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)
- 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
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
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Patients with genetic disorders of lipid metabolism are evaluated and treated by our Prevention team
Postural Orthostatic Tachycardia Syndrome (POTS)
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Patients suspected to have Postural Orthostatic Tachycardia Syndrome (POTS) are evaluated and treated in our Syncope Clinic, operated the Electrophysiology team