Table 5.

Genes associated with various forms of arrhythmogenic right ventricular cardiomyopathy

Gene	OMIM gene	Disease	OMIM disease	Inheritance	Function
TGFB3	190230	ARVC1	107970	AD	Involved in embryogenesis, differentiation, wound healing
RYR2	180902	ARVC2	600996	AD	Ca2+ channel that releases Ca2+ from sarcoplasmic reticulum into cytoplasm and triggers cardiac muscle contraction
TMEM43	612048	ARVC5	604400	AD	Maintains nuclear envelope structure
DSP	125647	ARVC8	607450	AD	Forms obligate component of functional desmosomes
PKP2	602861	ARVC9	609040	AD	Plays role in junctional plaques
DSG2	125671	ARVC10	610193	AD	Ca2+-binding transmembrane glycoprotein components of desmosomes between myocardial cells
JUP	173325	ARVC12	611528	AD	Common constituent of desmosomes and intermediate junctions
CTNNA3	607667	ARVC13	615616	AD	Involved in formation of cell-cell adhesion complexes in muscle cells
TTN	188840	ARVC	/	AD	Important for striated muscle assembly and functioning; connects microfilaments and contributes to balance of forces between two halves of sarcomere
DES	125660	ARVC	/	AD	Sarcomeric microtubule-anchoring protein that maintains sarcomere structure
LMNA	150330	ARVC	/	AD	Required for cardiac homeostasis
DSC2	125645	ARVC11	610476	AD, AR	Major components of desmosomes (cell-cell junctions found in mechanically-stressed cells)

ARVC=arrhythmogenic right ventricular cardiomyopathy; AD=Autosomal dominant; AR=Autosomal recessive.