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. So far, 12 variants have been identified.

Classification

Variant	Associated mutation
ARVD1	This variant is due to a heterozygous mutation in the TGFB3 gene
ARVD2	Associated with a mutation in the RYR2 gene on chromosome 1q42-q43
ARVD3	Associated with a mutation in the chromosome 14q12-q22 region
ARVD4	Associated with a mutation in the chromosome 2q32.1-q32.3 region
ARVD5	Associated with a mutation in the TMEM43 gene on chromosome 3p23 region
ARVD6	Associated with a mutation in the chromosome 10p14-p12 region
ARVD7	Associated with a mutation in the chromosome 10q22.3 region
ARVD8	Associated with a mutation in the DSP gene on chromosome 6p24
ARVD9	Associated with a mutation in the PKP2 gene on chromosome 12p11
ARVD10	Associated with a mutation in the DSG2 gene on chromosome 18q12.1-q12
ARVD11	Associated with a mutation in the DSC2 gene on chromosome 18q12.1
ARVD12	Associated with a mutation in the JUP gene on chromosome 17q21

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.