arrhythmogenic right ventricular dysplasia

Summary

Summary: A congenital cardiomyopathy that is characterized by infiltration of adipose and fibrous tissue into the RIGHT VENTRICLE wall and loss of myocardial cells. Primary injuries usually are at the free wall of right ventricular and right atria resulting in ventricular and supraventricular arrhythmias.

Top Publications

  1. Teske A, Cox M, Te Riele A, De Boeck B, Doevendans P, Hauer R, et al. Early detection of regional functional abnormalities in asymptomatic ARVD/C gene carriers. J Am Soc Echocardiogr. 2012;25:997-1006 pubmed publisher
  2. Huang H, Asimaki A, Lo D, McKenna W, Saffitz J. Disparate effects of different mutations in plakoglobin on cell mechanical behavior. Cell Motil Cytoskeleton. 2008;65:964-78 pubmed publisher
    ..These results indicate that different mutations in plakoglobin have markedly disparate effects on cell mechanical behavior, suggesting complex biomechanical roles for this protein. ..
  3. Rasmussen T, Palmfeldt J, Nissen P, Magnoni R, Dalager S, Jensen U, et al. Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy. Hum Mutat. 2013;34:697-705 pubmed publisher
    ..The results suggested a dominant-negative effect of the mutated DSG2 proteins because they were incorporated into the desmosomes. ..
  4. McCauley M, Wehrens X. Animal models of arrhythmogenic cardiomyopathy. Dis Model Mech. 2009;2:563-70 pubmed publisher
  5. Migliore F, Zorzi A, Silvano M, Rigato I, Basso C, Thiene G, et al. Clinical management of arrhythmogenic right ventricular cardiomyopathy: an update. Curr Pharm Des. 2010;16:2918-28 pubmed
    ..In case of refractory congestive heart failure, patients may become candidates for heart transplantation. ..
  6. Basso C, Corrado D, Marcus F, Nava A, Thiene G. Arrhythmogenic right ventricular cardiomyopathy. Lancet. 2009;373:1289-300 pubmed publisher
    ..Cascade genetic screening of family members of gene-positive probands allows the identification of asymptomatic carriers who would require lifelong follow-up due to the age-related penetrance. ..
  7. Lombardi R, Marian A. Molecular genetics and pathogenesis of arrhythmogenic right ventricular cardiomyopathy: a disease of cardiac stem cells. Pediatr Cardiol. 2011;32:360-5 pubmed publisher
    ..Suppression of the canonical Wnt signaling results in a switch to adipogenesis in the second heart field progenitor cells. Accordingly, ARVC is a disease of cardiac progenitor cells that have gone awry and differentiated to adipocytes. ..
  8. Paul M, Wichter T, Kies P, Gerss J, Wollmann C, Rahbar K, et al. Cardiac sympathetic dysfunction in genotyped patients with arrhythmogenic right ventricular cardiomyopathy and risk of recurrent ventricular tachyarrhythmias. J Nucl Med. 2011;52:1559-65 pubmed publisher
    ..In this study, we investigated the potential role of adrenergic dysfunction on the arrhythmia profile in patients with ARVC and correlated these findings with the causative genotype...
  9. Klauke B, Kossmann S, Gaertner A, Brand K, Stork I, Brodehl A, et al. De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. Hum Mol Genet. 2010;19:4595-607 pubmed publisher
    ..Thus, the gene coding for desmin appears to be a novel ARVC gene, which should be included in molecular genetic screening of ARVC patients...

More Information

Publications62

  1. Gandjbakhch E, Fressart V, Bertaux G, Faivre L, Simon F, Frank R, et al. Sporadic arrhythmogenic right ventricular cardiomyopathy/dysplasia due to a de novo mutation. Europace. 2009;11:379-81 pubmed publisher
    ..This suggests that the benefit of molecular genetics can be extended to sporadic ARVC and may improve genetic counselling. ..
  2. Luijkx T, Velthuis B, Prakken N, Cox M, Bots M, Mali W, et al. Impact of revised Task Force Criteria: distinguishing the athlete's heart from ARVC/D using cardiac magnetic resonance imaging. Eur J Prev Cardiol. 2012;19:885-91 pubmed publisher
    ..A good alternative in athletes is the LV/RV EDV ratio, representing normal proportionate adaptation of both ventricles. ..
  3. Sato T, Nishio H, Suzuki K. Sudden death during exercise in a juvenile with arrhythmogenic right ventricular cardiomyopathy and desmoglein-2 gene substitution: a case report. Leg Med (Tokyo). 2011;13:298-300 pubmed publisher
    ..In addition to morphological examination, genetic analysis may be useful for diagnosis of ARVC-suspected autopsy cases. ..
  4. Garcia F, Bazan V, Zado E, Ren J, Marchlinski F. Epicardial substrate and outcome with epicardial ablation of ventricular tachycardia in arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation. 2009;120:366-75 pubmed publisher
    ..Epicardial substrate and VT mapping identifies targets, and ablation results in VT control. ..
  5. Corrado D, Calkins H, Link M, Leoni L, Favale S, Bevilacqua M, et al. Prophylactic implantable defibrillator in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia and no prior ventricular fibrillation or sustained ventricular tachycardia. Circulation. 2010;122:1144-52 pubmed publisher
    ..Programmed ventricular stimulation had a low predictive accuracy for ICD therapy. ..
  6. Avramides D, Protonotarios N, Asimaki A, Matsakas E. Arrhythmogenic right ventricular cardiomyopathy/dysplasia. Hellenic J Cardiol. 2011;52:452-61 pubmed
  7. Djouadi F, Lecarpentier Y, Hebert J, Charron P, Bastin J, Coirault C. A potential link between peroxisome proliferator-activated receptor signalling and the pathogenesis of arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Res. 2009;84:83-90 pubmed publisher
    ..ARVC is associated with major disturbances in the PPARalpha and PPARgamma signalling pathway in the RV that may contribute to intracellular lipid overload and severe myosin dysfunction. ..
  8. Muthappan P, Calkins H. Arrhythmogenic right ventricular dysplasia. Prog Cardiovasc Dis. 2008;51:31-43 pubmed publisher
    b>Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited cardiomyopathy characterized by ventricular arrhythmias and structural abnormalities of the right ventricle (RV)...
  9. Simpson M, Mansour S, Ahnood D, Kalidas K, Patton M, McKenna W, et al. Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. Cardiology. 2009;113:28-34 pubmed publisher
    ..This mutation is predicted to lead to a frame shift and a premature termination codon at position 625 (S614fsX625). This is the first reported case of a mutation in desmocollin-2 associated with autosomal recessive ARVC. ..
  10. Li J, Swope D, Raess N, Cheng L, Muller E, Radice G. Cardiac tissue-restricted deletion of plakoglobin results in progressive cardiomyopathy and activation of {beta}-catenin signaling. Mol Cell Biol. 2011;31:1134-44 pubmed publisher
    ..This novel model of ARVC demonstrates for the first time how plakoglobin affects ?-catenin activity in the heart and its implications for disease pathogenesis. ..
  11. Vasaiwala S, Finn C, Delpriore J, Leya F, Gagermeier J, Akar J, et al. Prospective study of cardiac sarcoid mimicking arrhythmogenic right ventricular dysplasia. J Cardiovasc Electrophysiol. 2009;20:473-6 pubmed publisher
    Case studies indicate that cardiac sarcoid may mimic the clinical presentation of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C); however, the incidence and clinical predictors to diagnose cardiac sarcoid in patients ..
  12. Delmar M, McKenna W. The cardiac desmosome and arrhythmogenic cardiomyopathies: from gene to disease. Circ Res. 2010;107:700-14 pubmed publisher
  13. Corrado D, Basso C, Pilichou K, Thiene G. Molecular biology and clinical management of arrhythmogenic right ventricular cardiomyopathy/dysplasia. Heart. 2011;97:530-9 pubmed publisher
  14. Ghosh N, Haddad H. Recent progress in the genetics of cardiomyopathy and its role in the clinical evaluation of patients with cardiomyopathy. Curr Opin Cardiol. 2011;26:155-64 pubmed publisher
  15. van der Zwaag P, Jongbloed J, van den Berg M, van der Smagt J, Jongbloed R, Bikker H, et al. A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy. Hum Mutat. 2009;30:1278-83 pubmed publisher
    b>Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a hereditary cardiomyopathy characterized by fibrofatty replacement of cardiomyocytes, ventricular tachyarrhythmias and sudden death...
  16. Azaouagh A, Churzidse S, Konorza T, Erbel R. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a review and update. Clin Res Cardiol. 2011;100:383-94 pubmed publisher
    ..Orthotopic heart transplantation is considered in patients with progressive heart failure and intractable recurrent ventricular arrhythmias. ..
  17. Pfluger H, Phrommintikul A, Mariani J, Cherayath J, Taylor A. Utility of myocardial fibrosis and fatty infiltration detected by cardiac magnetic resonance imaging in the diagnosis of arrhythmogenic right ventricular dysplasia--a single centre experience. Heart Lung Circ. 2008;17:478-83 pubmed publisher
    Cardiac magnetic resonance imaging (CMR) has evolved as a major diagnostic tool to evaluate arrhythmogenic right ventricular dysplasia (ARVD)...
  18. Barahona Dussault C, Benito B, Campuzano O, Iglesias A, Leung T, Robb L, et al. Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. Clin Genet. 2010;77:37-48 pubmed publisher
  19. De Bortoli M, Beffagna G, Bauce B, Lorenzon A, Smaniotto G, Rigato I, et al. The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy. Eur J Hum Genet. 2010;18:776-82 pubmed publisher
  20. Pieroni M, Dello Russo A, Marzo F, Pelargonio G, Casella M, Bellocci F, et al. High prevalence of myocarditis mimicking arrhythmogenic right ventricular cardiomyopathy differential diagnosis by electroanatomic mapping-guided endomyocardial biopsy. J Am Coll Cardiol. 2009;53:681-9 pubmed publisher
    ..Right ventricular myocarditis frequently mimics ARVC. Three-dimensional EAM-guided EMB is a safe and effective tool in differential diagnosis and in the selection of the most appropriate therapeutic strategy. ..
  21. Mackey Bojack S, Roe S, Titus J. Sudden death with circumferential subepicardial fibrofatty replacement: left-sided arrhythmogenic ventricular cardiomyopathy. Am J Forensic Med Pathol. 2009;30:209-14 pubmed publisher
    ..We report these cases to familiarize forensic pathologists with this uncommon and potentially inheritable condition...
  22. Taylor M, Graw S, Sinagra G, Barnes C, Slavov D, Brun F, et al. Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes. Circulation. 2011;124:876-85 pubmed publisher
    ..Structural impairment of the titin spring is a likely cause of ARVC and constitutes a novel mechanism underlying myocardial remodeling and sudden cardiac death. ..
  23. Lahtinen A, Lehtonen E, Marjamaa A, Kaartinen M, Helio T, Porthan K, et al. Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy. Heart Rhythm. 2011;8:1214-21 pubmed publisher
    ..Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a progressive myocardial disorder caused by mutations of desmosomal cell adhesion proteins. The prevalence of these variants in the general population is unknown...
  24. Basso C, Ronco F, Marcus F, Abudureheman A, Rizzo S, Frigo A, et al. Quantitative assessment of endomyocardial biopsy in arrhythmogenic right ventricular cardiomyopathy/dysplasia: an in vitro validation of diagnostic criteria. Eur Heart J. 2008;29:2760-71 pubmed publisher
    ..There is no diagnostic value of either septal or LV EMB. Cardiomyopathic changes of the myocytes also appear important for establishing a pathological diagnosis. ..
  25. Marcus F, Zareba W, Calkins H, Towbin J, Basso C, Bluemke D, et al. Arrhythmogenic right ventricular cardiomyopathy/dysplasia clinical presentation and diagnostic evaluation: results from the North American Multidisciplinary Study. Heart Rhythm. 2009;6:984-92 pubmed publisher
    ..Echocardiography, right ventricular angiography, signal-averaged ECG, and Holter monitoring provide optimal clinical evaluation of patients suspected of ARVC/D. ..
  26. Ladyjanskaia G, Basso C, Hobbelink M, Kirkels J, Lahpor J, Cramer M, et al. Sarcoid myocarditis with ventricular tachycardia mimicking ARVD/C. J Cardiovasc Electrophysiol. 2010;21:94-8 pubmed publisher
    ..This patient had a malignant clinical course with initial diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C); however, at postmortem histopathology revealed epithelioid granulomas ..
  27. Tan B, Jain R, den Haan A, Chen Y, Dalal D, Tandri H, et al. Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Cardiovasc Transl Res. 2010;3:663-73 pubmed publisher
    b>Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited form of cardiomyopathy with low penetrance and variable expressivity...
  28. Quarta G, Syrris P, Ashworth M, Jenkins S, Zuborne Alapi K, Morgan J, et al. Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy. Eur Heart J. 2012;33:1128-36 pubmed publisher
    ..Lamin A/C gene should be added to desmosomal genes when genetically testing patients with suspected ARVC, particularly when they also have ECG evidence for conduction disease. ..
  29. Rigato I, Bauce B, Rampazzo A, Zorzi A, Pilichou K, Mazzotti E, et al. Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy. Circ Cardiovasc Genet. 2013;6:533-42 pubmed publisher
    ..These results support the use of comprehensive genetic screening of desmosomal genes for arrhythmic risk stratification in ARVC. ..
  30. Calkins H, Marcus F. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: an update. Curr Cardiol Rep. 2008;10:367-75 pubmed
    ..Patients with ARVC/D are encouraged to avoid competitive athletics. Recent advances in the understanding of the genetic basis of ARVC/D have revealed that ARVC/D is a disease of desmosomal dysfunction. ..
  31. Bhuiyan Z, Jongbloed J, van der Smagt J, Lombardi P, Wiesfeld A, Nelen M, et al. Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. Circ Cardiovasc Genet. 2009;2:418-27 pubmed publisher
    ..major desmosomal genes, Plakophilin-2 (PKP2), Desmoglein-2 (DSG2), and Desmocollin-2 (DSC2), in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) patients...
  32. Bauce B, Nava A, Beffagna G, Basso C, Lorenzon A, Smaniotto G, et al. Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia. Heart Rhythm. 2010;7:22-9 pubmed publisher
    ..Even if multiple-mutation carriers show a wide variability in clinical expression, the extent of the disease is higher compared to that in single-mutation carriers. ..
  33. Asimaki A, Saffitz J. The role of endomyocardial biopsy in ARVC: looking beyond histology in search of new diagnostic markers. J Cardiovasc Electrophysiol. 2011;22:111-7 pubmed publisher
    ..Analysis of conventional EMB using such biomarkers could improve diagnostic sensitivity and accuracy but widespread clinical application of this approach requires further validation. ..
  34. Li C, Lin Y, Huang J, Wu T, Cheng C, Lin W, et al. Long-term follow-up in patients with arrhythmogenic right ventricular cardiomyopathy. J Cardiovasc Electrophysiol. 2012;23:750-6 pubmed publisher
    ..However, early and clustered recurrence of rapid VT/VF in patients with an ICD is common, whereas late occurrence of rapid VT/VF is very rare. ..
  35. Roberts J, Veinot J, Rutberg J, Gollob M. Inherited cardiomyopathies mimicking arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Pathol. 2010;19:316-20 pubmed publisher
    ..This report represents the first documentation of inherited cardiomyopathies mimicking ARVC and highlights the concept that other cardiac conditions can be associated with fibrofatty replacement of the myocardium. ..
  36. Sacher F, Roberts Thomson K, Maury P, Tedrow U, Nault I, Steven D, et al. Epicardial ventricular tachycardia ablation a multicenter safety study. J Am Coll Cardiol. 2010;55:2366-72 pubmed publisher
    ..VT ablation required epicardial ablation in 121 of 913 procedures (13%), with a risk of 5% and 2% of acute and delayed major complications related to epicardial access. ..
  37. Lombardi R, da Graça Cabreira Hansen M, Bell A, Fromm R, Willerson J, Marian A. Nuclear plakoglobin is essential for differentiation of cardiac progenitor cells to adipocytes in arrhythmogenic right ventricular cardiomyopathy. Circ Res. 2011;109:1342-53 pubmed publisher
    ..Nuclear PG provokes adipogenesis in c-Kit+ CPCs by repressing the canonical Wnt signaling and inducing a proadipogenic gene expression. The findings suggest that adipocytes in ARVC, at least in part, originate from c-Kit+ CPCs. ..
  38. Asimaki A, Tandri H, Huang H, Halushka M, Gautam S, Basso C, et al. A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. N Engl J Med. 2009;360:1075-84 pubmed publisher
    ..Routine immunohistochemical analysis of a conventional endomyocardial-biopsy sample appears to be a highly sensitive and specific diagnostic test for ARVC. ..
  39. Konishi H, Okuda A, Ohno Y, Kihara A. Characterization of HACD1 K64Q mutant found in arrhythmogenic right ventricular dysplasia patients. J Biochem. 2010;148:617-22 pubmed publisher
    b>Arrhythmogenic right ventricular dysplasia (ARVD) is an autosomal dominant heart disease...
  40. Bhonsale A, James C, Tichnell C, Murray B, Gagarin D, Philips B, et al. Incidence and predictors of implantable cardioverter-defibrillator therapy in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy undergoing implantable cardioverter-defibrillator implantation for primary prevention. J Am Coll Cardiol. 2011;58:1485-96 pubmed publisher
    ..and predictors of implantable cardioverter-defibrillator (ICD) therapy in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) after placement of an ICD for primary prevention...
  41. Oyama M, Reiken S, Lehnart S, Chittur S, Meurs K, Stern J, et al. Arrhythmogenic right ventricular cardiomyopathy in Boxer dogs is associated with calstabin2 deficiency. J Vet Cardiol. 2008;10:1-10 pubmed publisher
    ..Calstabin2 deficiency is a potential mechanism of Ca(2+) leak-induced ventricular arrhythmias and heart disease in Boxer dogs with ARVC. ..
  42. James C, Bhonsale A, Tichnell C, Murray B, Russell S, Tandri H, et al. Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. J Am Coll Cardiol. 2013;62:1290-1297 pubmed publisher
    This study sought to determine how exercise influences penetrance of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) among patients with desmosomal mutations...
  43. Vermes E, Strohm O, Otmani A, Childs H, Duff H, Friedrich M. Impact of the revision of arrhythmogenic right ventricular cardiomyopathy/dysplasia task force criteria on its prevalence by CMR criteria. JACC Cardiovasc Imaging. 2011;4:282-7 pubmed publisher
    ..The revision, although maintaining a high specificity, may not have improved the sensitivity for identifying patients with ARVC/D. Larger studies including follow-up are required. ..
  44. Xu T, Yang Z, Vatta M, Rampazzo A, Beffagna G, Pilichou K, et al. Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol. 2010;55:587-97 pubmed publisher
    ..Disturbed junctional cytoarchitecture in subjects with desmosomal mutations confirms that ARVC is a disease of the desmosome and cell junction. ..
  45. Herren T, Gerber P, Duru F. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a not so rare "disease of the desmosome" with multiple clinical presentations. Clin Res Cardiol. 2009;98:141-58 pubmed publisher
    ..In this paper, we describe distinct clinical presentations of ARVC/D, review the genetic background of the disease, and discuss its diagnosis and treatment. ..
  46. Awad M, Calkins H, Judge D. Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Nat Clin Pract Cardiovasc Med. 2008;5:258-67 pubmed publisher
    b>Arrhythmogenic right ventricular dysplasia/cardiomyopathy is an inherited cardiomyopathy estimated to affect approximately 1 in 5,000 individuals...
  47. Kapplinger J, Landstrom A, Salisbury B, Callis T, Pollevick G, Tester D, et al. Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. J Am Coll Cardiol. 2011;57:2317-27 pubmed publisher
    ..Radical mutations are high-probability ARVC-associated mutations, whereas rare missense mutations should be interpreted in the context of race and ethnicity, mutation location, and sequence conservation. ..
  48. Cox M, van der Smagt J, Noorman M, Wiesfeld A, Volders P, van Langen I, et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy diagnostic task force criteria: impact of new task force criteria. Circ Arrhythm Electrophysiol. 2010;3:126-33 pubmed publisher
    b>Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Diagnostic Task Force Criteria (TFC) proposed in 1994 are highly specific but lack sensitivity...
  49. El Demellawy D, Nasr A, Alowami S. An updated review on the clinicopathologic aspects of arrhythmogenic right ventricular cardiomyopathy. Am J Forensic Med Pathol. 2009;30:78-83 pubmed publisher
    ..We also highlighted the new insights on the disease pathogenesis. Hence, this review provides a better understanding of the disease and sheds light on many controversial issues regarding ARVC. ..
  50. Gilljam T, Bergh C. Right ventricular cardiomyopathy: timing of heart transplantation in Uhl's anomaly and arrythmogenic right ventricular cardiomyopathy. Eur J Heart Fail. 2009;11:106-9 pubmed publisher
    ..An ICD alone is therefore not sufficient for the prevention of SD. When invasive data show evidence of Fontan-type circulation, the patient may be considered for heart transplantation. ..
  51. Yared K, Johri A, Soni A, Johnson M, Alkasab T, Cury R, et al. Cardiac sarcoidosis imitating arrhythmogenic right ventricular dysplasia. Circulation. 2008;118:e113-5 pubmed publisher
  52. Zhang M, Tavora F, Oliveira J, Li L, Franco M, Fowler D, et al. PKP2 mutations in sudden death from arrhythmogenic right ventricular cardiomyopathy (ARVC) and sudden unexpected death with negative autopsy (SUDNA). Circ J. 2012;76:189-94 pubmed
    ..E540, p.S615T). PKP2 mutations are not specific for ARVC and may result in SUDNA. The link between ARVC and desmosomal mutations may not be causal but related to an association between defective desmosomal proteins and arrhythmias. ..
  53. Lombardi R, Dong J, Rodriguez G, Bell A, Leung T, Schwartz R, et al. Genetic fate mapping identifies second heart field progenitor cells as a source of adipocytes in arrhythmogenic right ventricular cardiomyopathy. Circ Res. 2009;104:1076-84 pubmed publisher