Table 2.

Indications for Referral to a Cardiovascular Genetic Counselor

Condition suspected in patient or family history:	Genetic testing available	Guidelines (references) for:		Genetic testing yield
		Genetic Counseling	Genetic Testing
◦ Unexplained sudden death, sudden infant death syndrome	+ /−a	1, 8	1, 8	~5% (SIDS) – ~35% (SUD)
◦ Sudden cardiac arrest, and/or idiopathic ventricular fibrillation
Inherited Arrhythmias:		1, 8	1, 8
◦ Long QT syndrome	+			70–80%
◦ Brugada syndrome	+			20–30%
◦ Catecholaminergic polymorphic ventricular tachycardia	+			60 –70%
◦ Short QT syndrome	+			unknown
◦ Progressive cardiac conduction disease	+/−			unknown
Cardiomyopathies:		1, 23	1, 23
◦ Hypertrophic cardiomyopathy	+			30–50%
◦ Dilated cardiomyopathy (idiopathic or familial)	+			30–40%
◦ Arrhythmogenic right ventricular dysplasia/cardiomyopathy	+			30–50%
◦ Restrictive cardiomyopathy	+			unknown
◦ Left ventricular noncompaction cardiomyopathy	+			~20%
Conditions affecting the aorta and other blood vessels:		24	24
◦ Familial or early onset thoracic aortic aneurysm and dissection	+			4–15%
◦ Marfan syndrome	+			75–90%
◦ Loeys-Dietz syndrome	+			~85%
◦ Ehlers-Danlos syndrome (vascular and classic types)	+			vascular 95%/classic 50%
◦ Arterial tortuosity syndrome	+
◦ Bicuspid aortic valve	+/−			unknown
Congenital heart disease	+/−a			Varies
Coronary artery disease, early-onset and/or familial	−
◦ Familial hypercholesterolemia	+		41	60–80%
Pulmonary arterial hypertension, idiopathic or familial	+	42	42	25% simplex 75% familial
Known familial mutation for cardiovascular condition	+	1, 8, 23, 24	1, 8, 23, 24

+ = available; +/− = available for limited or specific indications; − = not clinically available;

^aavailability of testing depends on risk assessment and evaluation