Arrhythmogenic right ventricular dysplasia classification

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Variants of arrhythmogenic right ventricular dysplasia can be classified based upon the genetic abnormality involved. Thus far, 12 variants have been identified.

ARVD1

This variant is due to a heterozygous mutation in the TGFB3 gene (190230) on chromosome 14q24.

ARVD2

This variant (600996) is associated with a mutation in the RYR2 gene (180902) on chromosome 1q42-q43.

ARVD3

This variant (602086) is associated with a mutation in the chromosome 14q12-q22 region.

ARVD4

This variant (602087) is associated with a mutation in the chromosome 2q32.1-q32.3 region.

ARVD5

This variant (604400) is associated with a mutation in the TMEM43 gene (612048) on chromosome 3p23 region.

ARVD6

This variant (604401), is associated with a mutation in the chromosome 10p14-p12 region.

ARVD7

This variant 609160) is associated with a mutation in the chromosome 10q22.3 region.

ARVD8

This variant 607450) is associated with a mutation in the DSP gene (125647) on chromosome 6p24.

ARVD9

This variant (609040) is associated with a mutation in the PKP2 gene (602861) on chromosome 12p11.

ARVD10

This variant (610193) is associated with a mutation in the DSG2 gene (125671) on chromosome 18q12.1-q12.

ARVD11

This variant (610476) is associated with a mutation in the DSC2 gene (125645) on chromosome 18q12.1.

ARVD12

This variant (611528) is associated with a mutation in the JUP gene (173325) on chromosome 17q21.