Arytmogenna kardiomiopatia prawej komory – aktualny stan wiedzy. Część 1 Artykuł przeglądowy

##plugins.themes.bootstrap3.article.main##

Olga Możeńska
Maria Różańska
Jacek Bil
Mariusz Furmanek
Krzysztof Jaworski
Dariusz A. Kosior

Abstrakt

Arytmogenna kardiomiopatia prawej komory (ARVC) jest dość częstą chorobą serca charakteryzującą się występowaniem komorowych zaburzeń rytmu serca oraz specyficznymi zmianami patomorfologicznymi w obrębie komór serca. Stanowi ona jedną z istotnych przyczyn nagłych zgonów sercowych u młodych dorosłych. W pierwszej części artykułu opisano aktualny stan wiedzy na temat ARVC, jej epidemiologię, etiologię, czynniki ryzyka, obraz kliniczny i metody rozpoznawania.

Pobrania

Dane pobrania nie są jeszcze dostepne

##plugins.themes.bootstrap3.article.details##

Jak cytować
Możeńska, O., Różańska , M., Bil , J., Furmanek , M., Jaworski , K., & Kosior , D. A. (2015). Arytmogenna kardiomiopatia prawej komory – aktualny stan wiedzy. Część 1 . Kardiologia W Praktyce, 9(1), 47-61. Pobrano z https://www.journalsmededu.pl/index.php/kwp/article/view/1357
Dział
Artykuły

Bibliografia

1. Zipes D.P., Camm A.J., Borggrefe M. et al.: European Heart Rhythm Association, Heart Rhythm Society: ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: a report of the American College of Cardiology/ American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (Writing Committee to Develop Guidelines for Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death). Journal of the American College of Cardiology 2006; 48(5): e247-346.
2. Gemayel C., Pelliccia A., Thompson P.D.: Arrhythmogenic right ventricular cardiomyopathy. Journal of the American College of Cardiology 2001; 38(7): 1773-1781.
3. Sen-Chowdhry S., Lowe M.D., Sporton S.C. et al.: Arrhythmogenic right ventricular cardiomyopathy: clinical presentation, diagnosis, and management. The American Journal of Medicine 2004; 117(9): 685-695.
4. 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(5): 841-842.
5. Corrado D., Thiene G.: Arrhythmogenic right ventricular cardiomyopathy/dysplasia: clinical impact of molecular genetic studies. Circulation 2006; 113(13): 1634-1637.
6. Corrado D., Fontaine G., Marcus F.I. et al.: Arrhythmogenic right ventricular dysplasia/cardiomyopathy: need for an international registry. Study Group on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy of the Working Groups on Myocardial and Pericardial Disease and Arrhythmias of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the World Heart Federation. Circulation 2000; 101(11): E101-106.
7. Corrado D., Basso C., Schiavon M. et al.: Screening for hypertrophic cardiomyopathy in young athletes. The New England Journal of Medicine 1998; 339(6): 364-369.
8. Dalal D., Nasir K., Bomma C. et al.: Arrhythmogenic right ventricular dysplasia: a United States experience. Circulation 2005; 112(25): 3823-3832.
9. Sen-Chowdhry S., Syrris P., McKenna W.J.: Genetics of right ventricular cardiomyopathy. Journal of Cardiovascular Electrophysiology 2005; 16(8): 927-935.
10. Dalal D., James C., Devanagondi R. et al.: Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/ cardiomyopathy. Journal of the American College of Cardiology 2006; 48(7): 1416-1424.
11. Kirchhof P., Fabritz L., Zwiener M. et al.: Age- and training-dependent development of arrhythmogenic right ventricular cardiomyopathy in heterozygous plakoglobin-deficient mice. Circulation 2006; 114(17): 1799-1806.
12. 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. American Journal of Human Genetics 2002; 71(5): 1200-1206.
13. Nava A., Bauce B., Basso C. et al.: Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. Journal of the American College of Cardiology 2000; 36(7): 2226-2233.
14. Angelini A., Basso C., Nava A. et al.: Endomyocardial biopsy in arrhythmogenic right ventricular cardiomyopathy. American Heart Journal 1996; 132(1 Pt 1): 203-206.
15. Basso C., Ronco F., Marcus F. et al.: Quantitative assessment of endomyocardial biopsy in arrhythmogenic right ventricular cardiomyopathy/dysplasia: an in vitro validation of diagnostic criteria. European Heart Journal 2008; 29(22): 2760-2771.
16. Hulot J.S., Jouven X., Empana J.P. et al.: Natural history and risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation 2004; 110(14): 1879-1884.
17. Hermida J.S., Minassian A., Jarry G. et al.: Familial incidence of late ventricular potentials and electrocardiographic abnormalities in arrhythmogenic right ventricular dysplasia. The American Journal of Cardiology 1997; 79(10): 1375-1380.
18. Protonotarios N., Tsatsopoulou A., Anastasakis A. et al: Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. Journal of the American College of Cardiology 2001; 38(5): 1477-1484.
19. Antoniades L., Tsatsopoulou A., Anastasakis A. et al.: Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis. European Heart Journal 2006; 27(18): 2208-2216.
20. Tabib A., Loire R., Chalabreysse L. et al.: Circumstances of death and gross and microscopic observations in a series of 200 cases of sudden death associated with arrhythmogenic right ventricular cardiomyopathy and/or dysplasia. Circulation 2003; 108(24): 3000-3005.
21. Maron B.J., Carney K.P., Lever H.M. et al.: Relationship of race to sudden cardiac death in competitive athletes with hypertrophic cardiomyopathy. Journal of the American College of Cardiology 2003; 41(6): 974-980.
22. Thiene G., Nava A., Corrado D. et al.: Right ventricular cardiomyopathy and sudden death in young people. The New England Journal of Medicine 1988; 318(3): 129-133.
23. Douglas P.S., O’Toole M.L., Hiller W.D. et al.: Different effects of prolonged exercise on the right and left ventricles. Journal of the American College of Cardiology 1990; 15(1): 64-69.
24. Haissaguerre M., Le Metayer P., D’Ivernois C. et al.: Distinctive response of arrhythmogenic right ventricular disease to high dose isoproterenol. Pacing and Clinical Electrophysiology: PACE 1990; 13(12 Pt 2): 2119-2126.
25. Leclercq J.F., Potenza S., Maison-Blanche P. et al.: Determinants of spontaneous occurrence of sustained monomorphic ventricular tachycardia in right ventricular dysplasia. Journal of the American College of Cardiology 1996; 28(3): 720-724.
26. Wichter T., Hindricks G., Lerch H. et al.: Regional myocardial sympathetic dysinnervation in arrhythmogenic right ventricular cardiomyopathy. An analysis using 123I-meta-iodobenzylguanidine scintigraphy. Circulation 1994; 89(2): 667-683.
27. Wichter T., Schafers M., Rhodes C.G. et al.: Abnormalities of cardiac sympathetic innervation in arrhythmogenic right ventricular cardiomyopathy: quantitative assessment of presynaptic norepinephrine reuptake and postsynaptic beta-adrenergic receptor density with positron emission tomography. Circulation 2000; 101(13): 1552-1558.
28. Maron B.J., Ackerman M.J., Nishimura R.A. et al.: Task Force 4: HCM and other cardiomyopathies, mitral valve prolapse, myocarditis, and Marfan syndrome. Journal of the American College of Cardiology 2005; 45(8): 1340-1345.
29. Tonet J.L., Castro-Miranda R., Iwa T. et al.: Frequency of supraventricular tachyarrhythmias in arrhythmogenic right ventricular dysplasia. The American Journal of Cardiology 1991; 67(13): 1153.
30. Sen-Chowdhry S., Syrris P., Ward D. et al.: Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression. Circulation 2007; 115(13): 1710-1720.
31. Tandri H., Saranathan M., Rodriguez E.R. et al.: Noninvasive detection of myocardial fibrosis in arrhythmogenic right ventricular cardiomyopathy using delayed-enhancement magnetic resonance imaging. Journal of the American College of Cardiology 2005; 45(1): 98-103.
32. Sen-Chowdhry S., Prasad S.K., Syrris P. et al.: Cardiovascular magnetic resonance in arrhythmogenic right ventricular cardiomyopathy revisited: comparison with task force criteria and genotype. Journal of the American College of Cardiology 2006; 48(10): 2132-2140.
33. Pinamonti B., Sinagra G., Salvi A. et al.: Left ventricular involvement in right ventricular dysplasia. American Heart Journal 1992; 123(3): 711-724.
34. Corrado D., Basso C., Thiene G. et al.: Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study. Journal of the American College of Cardiology 1997; 30(6): 1512-1520.
35. Sen-Chowdhry S., Syrris P., Prasad S.K. et al.: Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. Journal of the American College of Cardiology 2008; 52(25): 2175-2187.
36. Manyari D.E., Duff H.J., Kostuk W.J. et al.: Usefulness of noninvasive studies for diagnosis of right ventricular dysplasia. The American Journal of Cardiology 1986; 57(13): 1147-1153.
37. Jaoude S.A., Leclercq J.F., Coumel P.: Progressive ECG changes in arrhythmogenic right ventricular disease. Evidence for an evolving disease. European Heart Journal 1996; 17(11): 1717-1722.
38. Marcus F.I., McKenna W.J., Sherrill D. et al.: Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria. Circulation 2010; 121(13): 1533-1541.
39. Marcus F.I., Zareba W.: The electrocardiogram in right ventricular cardiomyopathy/dysplasia. How can the electrocardiogram assist in understanding the pathologic and functional changes of the heart in this disease? Journal of Electrocardiology 2009; 42(2): 136 e131-135.
40. Fontaine G., Umemura J., Di Donna P. et al.: [Duration of QRS complexes in arrhythmogenic right ventricular dysplasia. A new non-invasive diagnostic marker]. Annales de Cardiologie et d’Angeiologie 1993; 42(8): 399-405.
41. Cox M.G., Nelen M.R., Wilde A.A. et al.: Activation delay and VT parameters in arrhythmogenic right ventricular dysplasia/cardiomyopathy: toward improvement of diagnostic ECG criteria. Journal of Cardiovascular Electrophysiology 2008; 19(8): 775-781.
42. Fontaine G., Frank R., Guiraudon G. et al.: [Significance of intraventricular conduction disorders observed in arrhythmogenic right ventricular dysplasia]. Archives des Maladies du Coeur et des Vaisseaux 1984; 77(8): 872-879.
43. Nasir K., Bomma C., Tandri H. et al.: Electrocardiographic features of arrhythmogenic right ventricular dysplasia/cardiomyopathy according to disease severity: a need to broaden diagnostic criteria. Circulation 2004; 110(12): 1527-1534.
44. Nava A., Canciani B., Buja G. et al.: Electrovectorcardiographic study of negative T waves on precordial leads in arrhythmogenic right ventricular dysplasia: relationship with right ventricular volumes. Journal of Electrocardiology 1988; 21(3): 239-245.
45. Piccini J.P., Nasir K., Bomma C. et al.: Electrocardiographic findings over time in arrhythmogenic right ventricular dysplasia/cardiomyopathy. The American Journal of Cardiology 2005; 96(1): 122-126.
46. Quarta G., Ward D., Tome Esteban M.T. et al.: Dynamic electrocardiographic changes in patients with arrhythmogenic right ventricular cardiomyopathy. Heart 2010; 96(7): 516-522.
47. Leclercq J.F., Coumel P.: Late potentials in arrhythmogenic right ventricular dysplasia. Prevalence, diagnostic and prognostic values. European Heart Journal 1993; 14(supl. E): 80-83.
48. Kinoshita O., Fontaine G., Rosas F. et al.: Time- and frequency-domain analyses of the signal-averaged ECG in patients with arrhythmogenic right ventricular dysplasia. Circulation 1995; 91(3): 715-721.
49. Mehta D., Goldman M., David O. et al.: Value of quantitative measurement of signal-averaged electrocardiographic variables in arrhythmogenic right ventricular dysplasia: correlation with echocardiographic right ventricular cavity dimensions. Journal of the American College of Cardiology 1996; 28(3): 713-719.
50. Turrini P., Angelini A., Thiene G.et al.: Late potentials and ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy. The American Journal of Cardiology 1999; 83(8): 1214-1219.
51. Blomstrom-Lundqvist C., Hirsch I., Olsson S.B. et al.: Quantitative analysis of the signal-averaged QRS in patients with arrhythmogenic right ventricular dysplasia. European Heart Journal 1988; 9(3): 301-312.
52. Kamath G.S., Zareba W., Delaney J. et al.: Value of the signal-averaged electrocardiogram in arrhythmogenic right ventricular cardiomyopathy/ dysplasia. Heart Rhythm: the official journal of the Heart Rhythm Society 2011; 8(2): 256-262.
53. Yoerger D.M., Marcus F., Sherrill D. et al.; Multidisciplinary Study of Right Ventricular Dysplasia I: Echocardiographic findings in patients meeting task force criteria for arrhythmogenic right ventricular dysplasia: new insights from the multidisciplinary study of right ventricular dysplasia. Journal of the American College of Cardiology 2005; 45(6): 860-865.
54. Boxt L.M., Rozenshtein A.: MR imaging of arrhythmogenic right ventricular dysplasia. Magnetic resonance imaging clinics of North America 2003; 11(1): 163-171.
55. Midiri M., Finazzo M., Brancato M. et al.: Arrhythmogenic right ventricular dysplasia: MR features. European Radiology 1997; 7(3): 307-312.
56. Bluemke D.A., Krupinski E.A., Ovitt T. et al.: MR imaging of arrhythmogenic right ventricular cardiomyopathy: morphologic findings and interobserver reliability. Cardiology 2003; 99(3): 153-162.
57. Tandri H., Castillo E., Ferrari V.A. et al.: Magnetic resonance imaging of arrhythmogenic right ventricular dysplasia: sensitivity, specificity, and observer variability of fat detection versus functional analysis of the right ventricle. Journal of the American College of Cardiology 2006; 48(11): 2277-2284.
58. Hodgkinson K.A., Parfrey P.S., Bassett A.S. et al.: The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5). Journal of the American College of Cardiology 2005; 45(3): 400-408.
59. Kaplan S.R., Gard J.J., Protonotarios N. et al.: Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). Heart rhythm: the official journal of the Heart Rhythm Society 2004; 1(1): 3-11.
60. Fogel M.A., Weinberg P.M., Harris M. et al.: Usefulness of magnetic resonance imaging for the diagnosis of right ventricular dysplasia in children. The American Journal of Cardiology 2006; 97(8): 1232-1237.
61. Quarta G., Muir A., Pantazis A. et al.: Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. Circulation 2011; 123(23): 2701-2709.
62. Daliento L., Rizzoli G., Thiene G. et al.: Diagnostic accuracy of right ventriculography in arrhythmogenic right ventricular cardiomyopathy. The American Journal of Cardiology 1990; 66(7): 741-745.
63. Daubert C., Descaves C., Foulgoc J.L. et al.: Critical analysis of cineangiographic criteria for diagnosis of arrhythmogenic right ventricular dysplasia. American Heart Journal 1988; 115(2): 448-459.
64. McKenna W.J., Thiene G., Nava A. et al.; 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: Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. British Heart Journal 1994; 71(3): 215-218.
65. Le Guludec D., Slama M.S., Frank R. et al.: Evaluation of radionuclide angiography in diagnosis of arrhythmogenic right ventricular cardiomyopathy. Journal of the American College of Cardiology 1995; 26(6): 1476-1483.
66. Mariano-Goulart D., Dechaux L., Rouzet F. et al.: Diagnosis of diffuse and localized arrhythmogenic right ventricular dysplasia by gated blood-pool SPECT. Journal of Nuclear Medicine: official publication, Society of Nuclear Medicine 2007; 48(9): 1416-1423.
67. Paul M., Stypmann J., Gerss J. et al.: Safety of endomyocardial biopsy in patients with arrhythmogenic right ventricular cardiomyopathy: a study analyzing 161 diagnostic procedures. JACC Cardiovascular Interventions 2011; 4(10): 1142-1148.
68. Kitzman D.W., Scholz D.G., Hagen P.T. et al.: Age-related changes in normal human hearts during the first 10 decades of life. Part II (Maturity): A quantitative anatomic study of 765 specimens from subjects 20 to 99 years old. Mayo Clinic Proceedings 1988; 63(2): 137-146.
69. Avella A., d’Amati G., Pappalardo A. et al.: Diagnostic value of endomyocardial biopsy guided by electroanatomic voltage mapping in arrhythmogenic right ventricular cardiomyopathy/dysplasia. Journal of Cardiovascular Electrophysiology 2008; 19(11): 1127-1134.
70. Asimaki A., Tandri H., Huang H. et al.: A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. The New England Journal of Medicine 2009; 360(11): 1075-1084.
71. Munkholm J., Christensen A.H., Svendsen J.H. et al.: Usefulness of immunostaining for plakoglobin as a diagnostic marker of arrhythmogenic right ventricular cardiomyopathy. The American Journal of Cardiology 2012; 109(2): 272-275.
72. Boulos M., Lashevsky I., Reisner S. et al.: Electroanatomic mapping of arrhythmogenic right ventricular dysplasia. Journal of the American College of Cardiology 2001; 38(7): 2020-2027.
73. Protonotarios N., Tsatsopoulou A., Patsourakos P. et al.: Cardiac abnormalities in familial palmoplantar keratosis. British Heart Journal 1986; 56(4): 321-326.
74. Coonar A.S., Protonotarios N., Tsatsopoulou A. et al.: Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. Circulation 1998; 97(20): 2049-2058.
75. Rogaev E.I., Rogaeva E.A., Ginter E.K. et al.: Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type I genes. Nature Genetics 1993; 5(2):158-162.
76. Alcalai R., Metzger S., Rosenheck S. et al.: A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair. Journal of the American College of Cardiology 2003; 42(2): 319-327.
77. Norgett E.E., Hatsell S.J., Carvajal-Huerta L. et al.: Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Human Molecular Genetics 2000; 9(18): 2761-2766.
78. Kaplan S.R., Gard J.J., Carvajal-Huerta L. et al.: Structural and molecular pathology of the heart in Carvajal syndrome. Cardiovascular Pathology: the official journal of the Society for Cardiovascular Pathology 2004; 13(1): 26-32.
79. Rampazzo A., Nava A., Danieli G.A. et al.: The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24. Human Molecular Genetics 1994; 3(6): 959-962.
80. Rampazzo A., Nava A., Erne P. et al.: A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43. Human Molecular Genetics 1995; 4(11): 2151-2154.
81. Severini G.M., 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.
82. 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): 259-263.
83. Ahmad F., Li D., Karibe A. et al.: Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23. Circulation 1998; 98(25): 2791-2795.
84. Li D., Ahmad F., Gardner M.J. 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. American Journal of Human Genetics 2000; 66(1): 148-156.
85. Melberg A., Oldfors A., Blomstrom-Lundqvist C. et al.: Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. Annals of Neurology 1999; 46(5): 684-692.
86. Gerull B., Heuser A., Wichter T. et al.: Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nature Genetics 2004; 36(11): 1162-1164.
87. Bauce B., Basso C., Rampazzo A. et al.: Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. European Heart Journal 2005; 26(16): 1666-1675.
88. Sen-Chowdhry S., Syrris P., McKenna W.J.: Desmoplakin disease in arrhythmogenic right ventricular cardiomyopathy: early genotype-phenotype studies. European Heart Journal 2005; 26(16): 1582-1584.
89. Syrris P., Ward D., Asimaki A. et al.: Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy. Circulation 2006; 113(3): 356-364.
90. Dalal D., Molin L.H., Piccini J. et al.: Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. Circulation 2006; 113(13): 1641-1649.
91. van Tintelen J.P., Entius M.M., Bhuiyan Z.A. et al.: Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation 2006; 113(13): 1650-1658.
92. Pilichou K., Nava A., Basso C. et al.: Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation 2006; 113(9): 1171-1179.
93. Syrris P., Ward D., Evans A. et al.: Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. American Journal of Human Genetics 2006; 79(5): 978-984.
94. Merner N.D., Hodgkinson K.A., Haywood A.F. et al.: Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. American Journal of Human Genetics 2008; 82(4): 809-821.
95. Ackerman M.J., Priori S.G., Willems S. et al.: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm: the official journal of the Heart Rhythm Society 2011; 8(8): 1308-1339.
96. Niroomand F., Carbucicchio C., Tondo C. et al.: Electrophysiological characteristics and outcome in patients with idiopathic right ventricular arrhythmia compared with arrhythmogenic right ventricular dysplasia. Heart 2002; 87(1): 41-47.
97. Hamid M.S., Norman M., Quraishi A. et al.: Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria. Journal of the American College of Cardiology 2002; 40(8): 1445-1450.
98. Protonotarios N., Anastasakis A., Antoniades L. et al.: Arrhythmogenic right ventricular cardiomyopathy/dysplasia on the basis of the revised diagnostic criteria in affected families with desmosomal mutations. European Heart Journal 2011; 32(9): 1097-1104.
99. Chimenti C., Pieroni M., Maseri A. et al.: Histologic findings in patients with clinical and instrumental diagnosis of sporadic arrhythmogenic right ventricular dysplasia. Journal of the American College of Cardiology 2004; 43(12): 2305-2313.
100. Vasaiwala S.C., Finn C., Delpriore J. et al.: Prospective study of cardiac sarcoid mimicking arrhythmogenic right ventricular dysplasia. Journal of Cardiovascular Electrophysiology 2009; 20(5): 473-476.
101. Uhl H.S.: A previously undescribed congenital malformation of the heart: almost total absence of the myocardium of the right ventricle. Bulletin of the Johns Hopkins Hospital 1952; 91(3): 197-209.
102. Gerlis L.M., Schmidt-Ott S.C., Ho S.Y. et al.: Dysplastic conditions of the right ventricular myocardium: Uhl’s anomaly vs arrhythmogenic right ventricular dysplasia. British Heart Journal 1993; 69(2): 142-150.
103. Corrado D., Basso C., Buja G. et al.: Right bundle branch block, right precordial st-segment elevation, and sudden death in young people. Circulation 2001; 103(5): 710-717.
104. Le Guludec D., Gauthier H., Porcher R. et al.: Prognostic value of radionuclide angiography in patients with right ventricular arrhythmias. Circulation 2001; 103(15): 1972-1976.