. Author manuscript; available in PMC: 2023 Mar 1.

Published in final edited form as: Med Clin North Am. 2022 Feb 2;106(2):313–324. doi: 10.1016/j.mcna.2021.11.007

Table 1.

Genetic testing for select cardiovascular phenotypes

Phenotype	Guidelines Supporting Genetic Testing	Yield of Genetic Testing	Potential Impact on Medical Management
Cardiomyopathies	HFSA²⁰	HCM: 30%–60%	Rare^a
HCM	HRS/EHRA²¹	DCM: 30%–40%
DCM		ACM: ~60%
ACM

Arrhythmia conditions LQTS	HRS/EHRA²²	LQTS: 50%–75%	Yes
BrS		BrS (SCN5A): 20%–25%
CPVT		CPVT: ~50%

Sudden cardiac death/ventricular arrhythmias	HRS/EHRA²² APHRS/HRS²³	15–30%^b	Yes

FTAAD	ACCF/AHA²⁴	10–20%^c	Yes

Familial hypercholesterolemia	NICE²⁵ NLA²⁶	60%–80%	Yes

Abbreviations: ACM, arrhythmogenic cardiomyopathy (including ARVC/D); AHA, American Heart Association; ; BrS, Brugada syndrome; CPVT, catecholaminergic polymorphic ventricular tachycardia; DCM, dilated cardiomyopathy; FTAAD, familial aortic aneurysms and dissections; HCM, hypertrophic cardiomyopathy; LQTS, long QT syndrome.

Exceptions include LMNA, ACM genes and phenocopies of HCM, including TTR cardiac amyloidosis, and Fabry disease.

In cases of sudden unexplained death (autopsy-negative sudden death).

Yield is higher in those with Marfan syndrome and other syndromic forms of aortopathy.