Table 1.

Genes associated with ACM.

Localization/ function	Gene symbol	Protein	Estimated frequency (%)	Mode of inheritance	Overlapping diseases	Affected ventricle	References
Desmosome	PKP2	Plakophilin 2	46	AD	BrS	RV, biventricular	(1, 30)
	DSP	Desmoplakin	14	AD, AR (Carvajal Syndrome)	DCM	LV, biventricular	(26, 30)
	DSG2	Desmoglein 2	10	AD	DCM	RV, biventricular	(28, 30)
	DSC2	Desmocollin 2	9	AD, AR (no skin manifestation)	–	RV, biventricular	(30)
	JUP	Plakoglobin	0.4	AD, AR (Naxos disease)	–	RV, biventricular	(1, 30)
Area Composita	CTNNA3	Catenin-α3	2.6	AD	–	RV, biventricular	(44)
	CDH2	Cadherin 2	1.2	AD	–	RV, biventricular	(41)
Cytoskeleton	DES	Desmin	Rare	AD	DCM, HCM	LV, biventricular	(45)
	FLNC	Filamin C	Rare	AD	DCM	LV	(46)
	TMEM43	transmembrane protein 43	Rare	AD	–	RV, biventricular	(54)
	TTN	Titin	Rare	AD	DCM, HCM	RV, LV, biventricular	(48)
Ion transport	SCN5A	Nav1.5	Rare	AD	BrS, LQTS	LV, biventricular	(51)
	PLN	Phospholamban	Rare	AD	DCM	LV, biventricular	(50)
Cytokine	TGFB3	Transforming growth factor-ß3	Rare	AD	–	RV	(52)

AD, autosomal dominant; AR, autosomal recessive; BrS, Brugada Syndrome; DCM, dilated cardiomyopathy; HCM, hypertrophic cardiomyopathy; LQTS, Long QT syndrome; LV, left ventricle; Nav1.5, α-subunit of the cardiac sodium channel complex; RV, right ventricle.