Arrhythmogenic right ventricular dysplasia classification: Difference between revisions
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=== '''Genetic-Based classification''' === | === '''Genetic-Based classification''' === | ||
Arhythmogenic right ventricular dysplasia can be classified based upon the genetic abnormality involved into 12 variants:<br /> | Arhythmogenic right ventricular dysplasia can be classified based upon the genetic abnormality involved into 12 variants:☂<ref>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}} - [http://www.ncbi.nlm.nih.gov/pubmed/19362677 Pubmed citation]</ref><ref>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</ref><ref>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. [http://linkinghub.elsevier.com/retrieve/pii/S0888754396900312 Genomics (link)] - [http://www.ncbi.nlm.nih.gov/pubmed/8824801 Pubmed citation]</ref><ref>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}} - [http://www.ncbi.nlm.nih.gov/pubmed/9344647 Pubmed citation]</ref><ref>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. [http://circ.ahajournals.org/cgi/pmidlookup?view=long&pmid=9860777 Circulation (link)] - [http://www.ncbi.nlm.nih.gov/pubmed/9860777 Pubmed citation]</ref><ref>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}} - [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1288320 Free text at pubmed] - [http://www.ncbi.nlm.nih.gov/pubmed/10631146 Pubmed citation]</ref><ref>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}} - [http://www.ncbi.nlm.nih.gov/pubmed/18197198 Pubmed citation]</ref><ref>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}} - [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC385098 Free text at pubmed] - [http://www.ncbi.nlm.nih.gov/pubmed/12373648 Pubmed citation]</ref><ref>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}} - [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2172504 Free text at pubmed] - [http://www.ncbi.nlm.nih.gov/pubmed/15479741 Pubmed citation]</ref><ref>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}} - [http://www.ncbi.nlm.nih.gov/pubmed/16505173 Pubmed citation]</ref><ref>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}} - [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1698574 Free text at pubmed] - [http://www.ncbi.nlm.nih.gov/pubmed/17033975 Pubmed citation]</ref><ref>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}} - [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2265660 Free text at pubmed] - [http://www.ncbi.nlm.nih.gov/pubmed/17924338 Pubmed citation]</ref><br /> | ||
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! style="background: #4479BA; padding: 5px 5px;" rowspan=1 | {{fontcolor|#FFFFFF|Variant}} | ! style="background: #4479BA; padding: 5px 5px;" rowspan=1 | {{fontcolor|#FFFFFF|Variant}} | ||
Latest revision as of 20:36, 15 May 2020
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Arrhythmogenic right ventricular dysplasia Microchapters |
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Differentiating Arrhythmogenic right ventricular dysplasia from other Diseases |
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Diagnosis |
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Treatment |
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Arrhythmogenic right ventricular dysplasia classification On the Web |
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Directions to Hospitals Treating Arrhythmogenic right ventricular dysplasia |
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Risk calculators and risk factors for Arrhythmogenic right ventricular dysplasia classification |
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 |
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| Latent arrhythmic form |
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| The manifested arrhythmic form |
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| ARVC with a progressive CHF |
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| ARVC in combination with LVNC |
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| Nonarrhythmic form of ARVC |
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References
- ↑ 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
- ↑ 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
- ↑ 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
- ↑ 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
- ↑ 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
- ↑ 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
- ↑ 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
- ↑ 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
- ↑ 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
- ↑ 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
- ↑ 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
- ↑ 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
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ Norman MW, McKenna WJ (1999). "Arrhythmogenic right ventricular cardiomyopathy: perspectives on disease". Z Kardiol. 88 (8): 550–4. doi:10.1007/s003920050324. PMID 10506390.