Arrhythmogenic left ventricular cardiomyopathy

Authors: Štěpán Havránek 1;  Tomáš Paleček 1;  Petr Kuchynka 1;  Ivana Vítková 2
Authors‘ workplace: II. interní klinika kardiologie a angiologie 1. LF UK a VFN v Praze 1;  Ústav patologie 1. LF UK a VFN v Praze 2
Published in: Vnitř Lék 2016; 62(9): 728-735
Category: Reviews


Arrhythmogenic left ventricular cardiomyopathy (ALVC) is a rare condition characterised by progressive fibrofatty replacement of the myocardium of the left ventricle in combination with arrhythmias of left ventricular origin. ALVC has been linked to autosomal dominant mutations of genes encoding desmosomal proteins, similarly to the classic arrhythmogenic right ventricular cardiomyopathy with which it also shares pathological and prognostic features. It seems that isolated left or right ventricular abnormalities represent two extremes of the spectrum of clinical manifestations of a single disease: arrhythmogenic cardiomyopathy. In addition to arrhythmias originating from the left ventricle, the diagnosis of ALVC is based on identification of morphological changes of the left ventricle including late gadolinium enhancement with subepicardial to midwall distribution, corresponding to fibrous or fibrofatty replacement on histopathology. The diagnosis is confirmed by detection of a causal mutation. ALVC should be kept in mind in the differential diagnosis of ventricular tachycardia of non-ischemic origin.

Key words:
arrhythmogenic cardiomyopathy – cardiac magnetic resonance – late gadolinium enhancement – ventricular tachycardia


1. Sen-Chowdhry S, Syrris P, Prasad SK et al. Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. Dostupné z DOI: J Am Coll Cardiol 2008; 52(25): 2175–2187. <>.

2. Collett BA, Davis GJ, Rohr WB. Extensive fibrofatty infiltration of the left ventricle in two cases of sudden cardiac death. J Forensic Sci 1994; 39(5): 1182–1187.

3. De Pasquale CG, Heddle WF. Left sided arrhythmogenic ventricular dysplasia in siblings. Heart 2001; 86(2): 128–130.

4. Gallo P, d‘Amati G, Pelliccia F. Pathologic evidence of extensive left ventricular involvement in arrhythmogenic right ventricular cardiomyopathy. Hum Pathol 1992; 23(8): 948–952.

5. Michalodimitrakis M, Papadomanolakis A, Stiakakis J et al. Left side right ventricular cardiomyopathy. Med Sci Law 2002; 42(4): 313–317.

6. Sen-Chowdhry S, Syrris P, McKenna WJ. Desmoplakin disease in arrhythmogenic right ventricular cardiomyopathy: early genotype-phenotype studies. Eur Heart J 2005; 26(16): 1582–1584.

7. Bauce B, Basso C, Rampazzo A et al. Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. Eur Heart J 2005; 26(16): 1666–1675.

8. Norman M, Simpson M, Mogensen J et al. Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. Circulation 2005; 112(5): 636–642.

9. Suzuki H, Sumiyoshi M, Kawai S et al. Arrhythmogenic right ventricular cardiomyopathy with an initial manifestation of severe left ventricular impairment and normal contraction of the right ventricle. Jpn Circ J 2000; 64(3): 209–213.

10. Okabe M, Fukuda K, Nakashima Y et al. An isolated left ventricular lesion associated with left ventricular tachycardia – arrhythmogenic “left” ventricular dysplasia? Jpn Circ J 1995; 59(1):49–54.

11. Coats CJ, Quarta G, Flett AS et al. Arrhythmogenic Left Ventricular Cardiomyopathy. Circulation 2009; 120(25): 2613–2614. Dostupné z DOI: <>.

12. 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(3): 1710–1720.

13. Sen-Chowdhry S, Syrris P, McKenna WJ. Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol 2007; 50(19): 1813–1821.

14. Gandjbakhch E, Vite A, Gary F et al. Screening of genes encoding junctional candidates in arrhythmogenic right ventricular cardiomyopathy/dysplasia. Europace 2013; 15(10): 1522–1525. Dostupné z DOI: <>.

15. Calore M, Lorenzon A, De Bortoli M et al. Arrhythmogenic cardiomyopathy: a disease of intercalated discs. Cell Tissue Res 2015; 360(3): 491–500. Dostupné z DOI: <–014–2015–5>.

16. Cox MG, van der Zwaag PA, van der Werf C et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study. Circulation 2011; 123(23): 2690–2700. Dostupné z DOI: <>.

17. Lorenzon A, Pilichou K, Rigato I et al. Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy. Am J Cardiol 2015; 116(8): 1245–1251. Dostupné z DOI: <>.

18. Al-Sabeq B, Krahn AD, Conacher S et al. Arrhythmogenic right ventricular cardiomyopathy with recessive inheritance related to a new homozygous desmocollin-2 mutation. Can J Cardiol 2014; 30(6): 696.e1-e3. Dostupné z DOI: <>.

19. Gerull B, Kirchner F, Chong JX et al. Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. Circ Cardiovasc Genet 2013; 6(4): 327–336. Dostupné z DOI: <>.

20. Simpson MA, Mansour S, Ahnood D et al. Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. Cardiology 2009; 113(1): 28–34. Dostupné z DOI: <>.

21. Carvajal-Huerta L. Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol 1998; 39(3): 418–421.

22. 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 Pathol 2004; 13(4): 185–194.

23. Groeneweg JA, van der Zwaag PA, Jongbloed JD et al. Left-dominant arrhythmogenic cardiomyopathy in a large family: associated desmosomal or nondesmosomal genotype? Heart Rhythm 2013; 10(4): 548–559. Dostupné z DOI: <>.

24. Ackerman MJ, Priori SG, 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 2011; 8(8): 1308–1339. Dostupné z DOI: <>.

25. Basso C, Thiene G, Corrado D et al. Arrhythmogenic right ventricular cardiomyopathy. Dysplasia, dystrophy, or myocarditis? Circulation 1996; 94(5): 983–991.

26. Corrado D, Basso C, Thiene G et al. Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study. J Am Coll Cardiol 1997; 30(6): 1512–1520.

27. Fontaine GH, Fornes P. Letter regarding article by Norman et al, “novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy”. Circulation 2006; 113(5): e68-e69.

28. Assomull RG, Lyne JC, Keenan N et al. The role of cardiovascular magnetic resonance in patients presenting with chest pain, raised troponin, and unobstructed coronary arteries. Eur Heart J 2007; 28(10): 1242–1249.

29. De Cobelli F, Pieroni M, Esposito A et al. Delayed gadolinium-enhanced cardiac magnetic resonance in patients with chronic myocarditis presenting with heart failure or recurrent arrhythmias. J Am Coll Cardiol 2006; 47(8): 1649–1654.

30. Jenni R, Oechslin E, Schneider J et al. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart 2001; 86(6): 666–671.

31. John BT, Tamarappoo BK, Titus JL et al. Global remodeling of the ventricular interstitium in idiopathic myocardial fibrosis and sudden cardiac death. Heart Rhythm 2004; 1(2): 141–149.

32. Bowker TJ, Wood DA, Davies MJ et al. Sudden, unexpected cardiac or unexplained death in England: a national survey. QJM 2003; 96(4): 269–279.

33. Davies MJ. The investigation of sudden cardiac death. Histopathology 1999; 34(2): 93–98.

34. Priori SG, Blomstrom-Lundqvist C, Mazzanti A et al. [Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC)]. 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC) Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC). Europace 2015; 17(11): 1601–1687. Dostupné z DOI: <>.

35. Havranek S, Palecek T, Kovarnik T et al. Arrhythmogenic substrate at the interventricular septum as a target site for radiofrequency catheter ablation of recurrent ventricular tachycardia in left dominant arrhythmogenic cardiomyopathy. BMC Cardiovasc Disord 2015; 15: 18. Dostupné z DOI: <–015–0010–8>.

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