Arrhythmogenic right ventricular dysplasia classification

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

Overview

Variants of arrythmogenic right ventricular dysplasia can be classified based on the the genetic abnormality involved; So far, 12 variants have been identified. Another classification was based on the clinical manifestation which was first developed by Fontaine et al. and lead to the identification of 3 clinical forms (based on a 9-year observation of 4 patients with different clinical course of ARVC). Later on, another variant of the ARVC classification was proposed, in which the RV and left ventricular forms were distinguished and a total of eleven different clinical forms were identified. However, these classifications did not define prognosis and approaches to treatment and hence, none was widely used in clinical practice. So, The development of clinical classification is considered an important task and an ultimate challenge.

Classification

Genetic-Based classification

Arhythmogenic right ventricular dysplasia can be classified based upon the genetic abnormality involved into 12 variants:☂[1][2][3][4][5][6][7][8][9][10][11][12]

Variant Associated mutation
ARVD1 This variant is due to a heterozygous mutation in the TGFB3 gene on chromosome 14q24 190230
ARVD2 Associated with a mutation in the RYR2 gene on chromosome 1q42-q43 180902
ARVD3 Associated with a mutation in the chromosome 14q12-q22 region 602086
ARVD4 Associated with a mutation in the chromosome 2q32.1-q32.3 region 602087
ARVD5 Associated with a mutation in the TMEM43 gene on chromosome 3p23 region 604400
ARVD6 Associated with a mutation in the chromosome 10p14-p12 region 604401
ARVD7 Associated with a mutation in the chromosome 10q22.3 region 609160
ARVD8 Associated with a mutation in the DSP gene on chromosome 6p24 607450, 125647
ARVD9 Associated with a mutation in the PKP2 gene on chromosome 12p11 609040, 125647
ARVD10 Associated with a mutation in the DSG2 gene on chromosome 18q12.1-q12 610193, 125671
ARVD11 Associated with a mutation in the DSC2 gene on chromosome 18q12.1 610476, 125645
ARVD12 Associated with a mutation in the JUP gene on chromosome 17q21 611528, 173325


Clinical-based Classification

Another classification is based on the clinical manifestations and course of the disease, six clinical forms of ARVC have been identified:[13][14][15][16]

Type Characterestics
Sudden arrhythmic death
  • Presents as the only clinical manifestation
Latent arrhythmic form
  • Frequent PVCs and/or nonsustained VT in the absence of sustained VT and syncope
  • Isolated RV PVCs;
  • RV PVCs with episodes of nonsustained VT
The manifested arrhythmic form
  • Sustained VT/ventricular fibrillation (VF)
ARVC with a progressive CHF
  • The main manifestation of the disease is CHF:
  • Predominantly right heart failure
  • Biventricular heart failure
ARVC in combination with LVNC
  • Arrhythmic form without CHF
  • Biventricular heart failure
Nonarrhythmic form of ARVC
  • Asymptomatic ARVC



References

  1. Basso C, Corrado D, Marcus FI et-al. Arrhythmogenic right ventricular cardiomyopathy. Lancet. 2009;373 (9671): 1289-300. doi:10.1016/S0140-6736%2809%2960256-7 - Pubmed citation
  2. Rampazzo A, Nava A, Erne P et-al. A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43. Hum. Mol. Genet. 1995;4 (11): 2151-4. Hum. Mol. Genet. (link) - Pubmed citation
  3. Severini GM, Krajinovic M, Pinamonti B et-al. A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14. Genomics. 1996;31 (2): 193-200. Genomics (link) - Pubmed citation
  4. Rampazzo A, Nava A, Miorin M et-al. ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm. Genomics. 1997;45 (2): 259-63. doi:10.1006/geno.1997.4927 - Pubmed citation
  5. Ahmad F, Li D, Karibe A et-al. Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23. Circulation. 98 (25): 2791-5. Circulation (link) - Pubmed citation
  6. Li D, Ahmad F, Gardner MJ et-al. The locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14. Am. J. Hum. Genet. 2000;66 (1): 148-56. doi:10.1086/302713 - Free text at pubmed - Pubmed citation
  7. Kuhl A, Melberg A, Meinl E et-al. Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. Eur. J. Hum. Genet. 2008;16 (3): 367-73. doi:10.1038/sj.ejhg.5201980 - Pubmed citation
  8. Rampazzo A, Nava A, Malacrida S et-al. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am. J. Hum. Genet. 2002;71 (5): 1200-6. doi:10.1086/344208 - Free text at pubmed - Pubmed citation
  9. Grossmann KS, Grund C, Huelsken J et-al. Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation. J. Cell Biol. 2004;167 (1): 149-60. doi:10.1083/jcb.200402096 - Free text at pubmed - Pubmed citation
  10. Pilichou K, Nava A, Basso C et-al. Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation. 2006;113 (9): 1171-9. doi:10.1161/CIRCULATIONAHA.105.583674 - Pubmed citation
  11. Syrris P, Ward D, Evans A et-al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am. J. Hum. Genet. 2006;79 (5): 978-84. doi:10.1086/509122 - Free text at pubmed - Pubmed citation
  12. Asimaki A, Syrris P, Wichter T et-al. A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. Am. J. Hum. Genet. 2007;81 (5): 964-73. doi:10.1086/521633 - Free text at pubmed - Pubmed citation
  13. Fontaine G, Brestescher C, Fontaliran F, Himbert C, Tonet J, Frank R (1995). "[Outcome of arrhythmogenic right ventricular dysplasia. Apropos of 4 cases]". Arch Mal Coeur Vaiss. 88 (7): 973–9. PMID 7487328.
  14. Fontaine G, Fontaliran F, Frank R (1998). "Arrhythmogenic right ventricular cardiomyopathies: clinical forms and main differential diagnoses". Circulation. 97 (16): 1532–5. doi:10.1161/01.cir.97.16.1532. PMID 9593556.
  15. Gilotra NA, Bhonsale A, James CA, Te Riele ASJ, Murray B, Tichnell C; et al. (2017). "Heart Failure Is Common and Under-Recognized in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia". Circ Heart Fail. 10 (9). doi:10.1161/CIRCHEARTFAILURE.116.003819. PMID 28874384.
  16. Norman MW, McKenna WJ (1999). "Arrhythmogenic right ventricular cardiomyopathy: perspectives on disease". Z Kardiol. 88 (8): 550–4. doi:10.1007/s003920050324. PMID 10506390.