Table 1.

Genetic background of arrhythmogenic cardiomyopathy including the probability of LV involvement. Modified from refs. [7] and [8] with permission.

Gene	Protein	Estimated % of cases	Inheritance	Expected LV involvement
CDH2	N-Cadherin-2	<2%	AD	–
CTNNA3	AlphaT-catenin	<2%	AD	–
DES	Desmin	<2%	AD	Frequent and often isolated
DSC2	Desmocollin-2	1%–8%	AD	If present, associated to RV involvement
DSG2	Desmoglein-2	3%–20%	AD/AR	Isolated or associated to RV involvement
DSP	Desmoplakin	3%–15%	AD/AR	Frequent either isolated or associated to RV involvement
FLNC	Filamin C	<2%	AD	Frequent and usually isolated (also a dilated biventricular cardiomyopathy phenotype can be present)
JUP	Plakoglobin	<1%	AD/AR	If present, associated to RV involvement
LMNA	Lamin A/C	<4%	AD	If present, associated to RV involvement
PKP2	Plakophilin-2	20%–46%	AD/AR	If present, associated to RV involvement
PLN	Phospholamban	<1%	AD	Frequent and often isolated
SCN5A	Sodium channel	2%	AD	If present, associated to RV involvement
TGFβ3	Transforming growth factor β3	<2%	AD	–
TMEM43	Transmembrane protein 43	<2%	AD	If present, associated to RV involvement
TTN	Titin	<10%	AD	–

AD: autosomal dominant; AR: autosomal recessive; LV: left ventricular; RV: right ventricular.