Arrhythmogenic right ventricular dysplasia historical perspective
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- In 1977, the concept of a specific RV cardiomyopathy was first suggested in a report of six patients with sustained ventricular tachycardia (VT) and enlarged right ventricles
- Arrhythmogenic right ventricular cardiomyopathy (ARVC) was described for the first time by Frank and Fontaine in 1978
- It was first described in patients undergoing surgical ablation for right ventricular outflow tract (RVOT) tachycardia
- In 1982, the term “arrhythmogenic right ventricular dysplasia” was first used in a case series of 24 patients with left bundle branch block (LBBB) pattern VT, RV wall motion abnormalities and replacement of the RV myocardium by adipose and fibrous tissue
- The term arrhythmogenic right ventricular dysplasia was not formally recognized as a distinct entity until 1994, following the publication of diagnostic criteria by the World Health Organization/International Society and Federation of Cardiology Task Force
- In 1994, diagnostic criteria were published by the Working Group on Myocardial and Pericardial Diseases of the European Society of Cardiology and the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology
- In 2010, these criteria were modified
- The first gene mutations linked to the disease were identified in a recessive, syndromic variant of ARVC known as Naxos disease.
- The cause of this particularly malignant form of the condition was found to be a two-base pair deletion in the gene encoding plakoglobin, a major component of cell-to-cell junctions
- Disease-causing mutations in other genes encoding desmosomal proteins in the more common autosomal dominant forms of ARVC were then identified
- Latter on, very similar clinical and histological phenotypes have been identified in patients with mutations in non-desmosomal genes, including titin, desmin and lamin A/C
- Frank R, Fontaine G, Vedel J, Mialet G, Sol C, Guiraudon G; et al. (1978). "[Electrocardiology of 4 cases of right ventricular dysplasia inducing arrhythmia]". Arch Mal Coeur Vaiss. 71 (9): 963–72. PMID 102297.
- Marcus FI, Fontaine GH, Guiraudon G, Frank R, Laurenceau JL, Malergue C; et al. (1982). "Right ventricular dysplasia: a report of 24 adult cases". Circulation. 65 (2): 384–98. doi:10.1161/01.cir.65.2.384. PMID 7053899.
- McKenna WJ, Thiene G, Nava A, Fontaliran F, Blomstrom-Lundqvist C, Fontaine G; et al. (1994). "Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology". Br Heart J. 71 (3): 215–8. doi:10.1136/hrt.71.3.215. PMC 483655. PMID 8142187.
- McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A; et al. (2000). "Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)". Lancet. 355 (9221): 2119–24. doi:10.1016/S0140-6736(00)02379-5. PMID 10902626.
- Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE; et al. (2000). "Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma". Hum Mol Genet. 9 (18): 2761–6. doi:10.1093/hmg/9.18.2761. PMID 11063735.
- Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V; et al. (2002). "Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy". Am J Hum Genet. 71 (5): 1200–6. doi:10.1086/344208. PMC 385098. PMID 12373648.
- Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA; et al. (2004). "Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy". Nat Genet. 36 (11): 1162–4. doi:10.1038/ng1461. PMID 15489853.
- Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD; et al. (2008). "Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene". Am J Hum Genet. 82 (4): 809–21. doi:10.1016/j.ajhg.2008.01.010. PMC 2427209. PMID 18313022.
- van Tintelen JP, Van Gelder IC, Asimaki A, Suurmeijer AJ, Wiesfeld AC, Jongbloed JD; et al. (2009). "Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene". Heart Rhythm. 6 (11): 1574–83. doi:10.1016/j.hrthm.2009.07.041. PMID 19879535.
- Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F; et al. (2001). "Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)". Hum Mol Genet. 10 (3): 189–94. doi:10.1093/hmg/10.3.189. PMID 11159936.