Cogprints

Naxos Disease

Protonotarios, Nikos and Tsatsopoulou, Adalena (2005) Naxos Disease. [Journal (Paginated)]

Full text available as:

[img]HTML
30Kb
[img]
Preview
PDF
193Kb

Abstract

Since 1995, according to the World Health Organisation’s classification of cardiomyopathies, Naxos disease has been considered as the recessive form of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).1 It is a stereotype association of ARVD/C with a cutaneous phenotype, characterised by woolly hair and palmoplantar keratoderma.2 Epidemiology Naxos disease was first reported in 1986 by Protonotarios et al in patients originating from the Hellenic island of Naxos.2,3 Apart from Naxos, cases have also been reported from other Hellenic islands, as well as from Turkey, Israel and Saudi Arabia.4 The prevalence of the disease in Hellenic islands reaches 1:1000. A variety of Naxos disease presenting at a younger age with more pronounced left ventricular involvement has been described in families from India and Ecuador (Carvajal syndrome).

Item Type:Journal (Paginated)
Keywords:Arrhythmogenic right ventricular dysplasia/cardiomyopathy; Naxos disease; Cell adhesions; Sudden death
Subjects:JOURNALS > Indian Pacing and Electrophysiology Journal
ID Code:4215
Deposited By:Indian Pacing and Electrophysiology, Journal
Deposited On:16 Apr 2005
Last Modified:11 Mar 2011 08:55

References in Article

Select the SEEK icon to attempt to find the referenced article. If it does not appear to be in cogprints you will be forwarded to the paracite service. Poorly formated references will probably not work.

1. Richardson P, McKenna W, Bristow M, et al: Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies. Circulation 1996; 93: 841-842.

2. Protonotarios N, Tsatsopoulou A, Patsourakos P, Alexopoulos D, Gezerlis P, Simitsis S, Scampardonis G. Cardiac abnormalities in familial palmoplantar keratosis. Br Heart J 1986;56:321-326.

3. Luderitz B. Naxos disease. J Interv Card Electrophysiol 2003;9:405-406.

4. Protonotarios N, Tsatsopoulou A: Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Path 2004; 13: 185-194.

5. Carvajal-Huerta L. Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol 1998;39:418-421.

6. Protonotarios N, Tsatsopoulou A, Fontaine G. Naxos disease: Keratoderma, scalp modifications, and cardiomyopathy. J Am Acad Dermatol 2001;44:309-310.

7. McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000;355:2119-2124.

8. Narin N, Akcakus M, Gunes T, Celiker A, Baykan A, Uzum K, Ferahbas A. Pace 2003;26:2326-2329.

9. Protonotarios N, Tsatsopoulou A, Anastasakis A, Sevdalis E, McKoy G, Stratos K, Gatzoulis K, Tentolouris K, Spiliopoulou C, Panagiotakos D, McKenna W, Toutouzas P. Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. J Am Coll Cardiol 2001;38:1477-1484.

10. Norgett EE, Hatsell SJ, Carvajal-Huerta L, Ruiz Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum. Molec. Genet. 2000;9:2761-2766.

11. Alcalai R, Metzger S, Rosenheck S, Meiner V, Chajek-Shaul T. A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair. J Am Coll Cardiol 2003;42:319-327.

12. Coonar AS, Protonotarios N, Tsatsopoulou A, Needham EWA, Houlston RS, Cliff S, Otter MI, Murday VA, Mattu RK, McKenna WJ. Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. Circulation 1998;97:2049-2058.

13. McKenna WJ, Thiene G, Nava A, Fontaliran F, Blomstrom-Lundqvist C, Fontaine G, Camerini F. 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. British Heart Journal 1994;71:215-218.

14. Protonotarios N, Tsatsopoulou A, Gatzoulis K. Arrhythmogenic right ventricular cardiomyopathy caused by a deletion in plakoglobin (Naxos disease). Card Electrophysiol Rev 2002;6:72-80.

15. Thiene G, Nava A, Corrado D, Rossi L, Pennelli N. Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med 1988; 318: 129-133.

16. Basso C, Tsatsopoulou A, Thiene G, Anastasakis A, Valente M, Protonotarios N. “Petrified” right ventricle in long-standing Naxos arrhythmogenic right ventricular cardiomyopathy. Circulation 2001;104:e132-e133.

17. Kaplan SR, Gard JJ, Carvajal-Huerta L, Ruiz-Cabezas JC, Thiene G, Saffitz JE. Structural and molecular pathology of the heart in Carvajal syndrome. Cardiovasc Pathol 2004;13:26-32.

18. Kaplan SR, Gard JJ, Protonotarios N, et al: Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). Heart Rhythm 2004; 1: 3-11.

19. Perriard JC, Hirschy A, Ehler E: Dilated cardiomyopathy: a disease of the intercalated disc? Trends Cardiovasc Med 2003; 13: 30-38.

20. Zhurinsky J, Shtutman M, Ben-Ze’ev A. Plakoglobin and β-catenin: protein interactions, regulation and biological role. J Cell Sci 2000;113:3127-3139.

21. .Marcus FI, Fontaine GH, Guiraudon G, Frank R, Laurenceau JL, Malergue C, Grosgogeat Y. Right ventricular dysplasia: a report of 24 adult cases. Circulation 982;65:384-398.

Metadata

Repository Staff Only: item control page