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. Author manuscript; available in PMC: 2010 Aug 24.
Published in final edited form as: Circ Heart Fail. 2009 May;2(3):253–261. doi: 10.1161/CIRCHEARTFAILURE.108.817346

Table 4. Genetic Causes of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C).

Gene Locus OMIM* Gene Product Frequency** Allelic Disorders
AUTOSOMAL DOMINANT ARVD/C
PKP2 12p11 602861 plakophilin-2 11-43% N/A
DSG2 18q12 125671 desmoglein 2 12-40% N/A
DSP 6p24 125647 desmoplakin 6-16% Carvajal syndrome
DSC2 18q12 125645 desmocollin-2 Rare N/A
JUP 17q21 173325 junction plakoglobin Rare Naxos syndrome
RYR2 1q42 180902 ryanodine receptor 2 Rare N/A
TGFB3 14q24 190230 transforming growth factor beta 3 Rare N/A
TMEM43 3p25 612048 transmembrane protein 43 Unknown N/A
AUTOSOMAL RECESSIVE ARVD/C
PKP2 12p11 602861 plakophilin-2 Rare N/A
*

OMIM is Online Mendelian Inheritance in Man, URL: http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim.

**

These estimates have been generated from primary and available secondary reports. See reference 40 for additional on-line gene-specific genetic testing information.