CLINICAL CASE OF NON-COMPACTION CARDIOMYOPATHY IN A PATIENT WITH PKP2 GENE MUTATION
https://doi.org/10.38109/2225-1685-2020-3-106-111
Abstract
The features of the clinical course of non-compaction cardiomyopathy, its prognosis and even its diagnosis are still the subject of discussion. The variety of phenotypes of this disease and genetic heterogeneity dictates the need for detailed clinical and molecular genetic examination of patients with this pathology. The article presents a clinical observation of a patient with a dilated phenotype of left ventricular non-compaction, progression of chronic heart failure, as well as the presence of ventricular rhythm and conduction disorders that required the implantation of cardiac resynchronization therapydefibrillator (CRT-D). The patient was found to have a missense mutation c. 1892A>G (p.Tyr631Cys, rs1060501183) in PKP2 gene in a heterozygous state. The issues of differential diagnostics with arrhythmogenic right ventricular cardiomyopathy and treatment strategies for the disease were discussed.
About the Authors
S. Komissarova
State Institution Republican Scientific and Practical Centre «Cardiology»
Belarus
Svetlana M. Komissarova, Dr. med. Sci., Associate Professor, Leading Researcher, Laboratory of Chronic Heart Failure
Belarus
Svetlana M. Komissarova, Dr. med. Sci., Associate Professor, Leading Researcher, Laboratory of Chronic Heart Failure
N. Rineiskaya
State Institution Republican Scientific and Practical Centre «Cardiology»
Belarus
Nadezhda M. Rineyskaya, junior researcher, laboratory of chronic heart failure
Belarus
Nadezhda M. Rineyskaya, junior researcher, laboratory of chronic heart failure
N. Chakova
Institute of Genetics and Cytology of Belarus National Academy of Science
Belarus
Natalya N. Chakova, Leading Researcher, Laboratory of Animal Genetics
Belarus
Natalya N. Chakova, Leading Researcher, Laboratory of Animal Genetics
S. Niyazova
Institute of Genetics and Cytology of Belarus National Academy of Science
Belarus
Svetlana N. Niyazova, Junior Researcher, Laboratory of Animal Genetics
Belarus
Svetlana N. Niyazova, Junior Researcher, Laboratory of Animal Genetics
T. Dolmatovich
Institute of Genetics and Cytology of Belarus National Academy of Science
Belarus
Tatyana V. Dolmatovich, Leading Researcher, Laboratory of Animal Genetics
Belarus
Tatyana V. Dolmatovich, Leading Researcher, Laboratory of Animal Genetics
References
1. Arbustini E, Weidemann F, Hall JL. Left ventricular noncompaction: a distinct cardiomyopathy or a trait shared by different cardiac diseases? J Am Coll Cardiol. 2014;64: 1840-50. DOI: 10.1016/j.jacc.2014.08.030
2. Oechslin E, Attenhofer Jost CH, Rojas JR, et al. Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis. J Am Coll Cardiol 2000; 36(2): 493-500. DOI: 10.1016/s0735-1097(00)00755-5
3. Finsterer J. Cardiogenetics, Neurogenetics, and Pathogenetics of Left Ventricular Hypertrabeculation/Noncompaction. Pediatr Cardiol 2009; 30: 659-81. DOI: 10.1007/s00246-008-9359-0
4. Towbin J, Lorts A, Jefferies J. Left ventricular non-compaction cardiomyopathy. The Lancet, 2015; 386: 813-25. DOI: 10.1016/S0140-6736(14)61282-4
5. Ichida F, Hamamichi Y, Miyawaki T, et al. Clinical features of isolated noncompaction of the ventricular myocardium: hemodynamic properties and genetic background: long-term clinical course. J Am Coll Cardiol 1999; 34: 1233-40. DOI: 10.1016/s0735-1097(99)00170-9
6. Jenni R, Oechslin E, Schneider J, et al. Echocardiographic and pathoanatomical characteristics of isolated left ventricular noncompaction: a step towards classification as a distinct cardiomyopathy. Heart (British Cardiac Society). 2001;86(6):666–71. PMID: 11711464
7. Petersen S, Selvanayagam J, Wiesmann F, et al. Left ventricular noncompaction: in- sights from cardiovascular magnetic resonance imaging. Journal of the American College of Cardiology. 2005;46(1):101–5. DOI: 10.1016/j.jacc.2005.03.045
8. Jacquier A, Thuny F, Jop B, et al. Measurement of trabeculated left ventricular mass using cardiac magnetic resonance imaging in the diagnosis of left ventricular non-compaction. European Heart Journal. 2010;31(9):1098– 104. DOI: 10.1093/eurheartj/ehp595
9. Rasmussen T., Nissen P., Palmfeldt J. et al. Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis. Circ Cardiovasc Genet. 2014;7(3):230-40. DOI: 10.1161/CIRCGENETICS.113.000338.
10. Fontaine G., Brestescher C., Fontaliran F. et al. Outcome of arrhythmogenic right ventricular dysplasia. Apropos of 4 cases. Arch Mal Coeur Vaiss. 1995 Jul;88(7):973-9. PMID: 7487328
11. Mertens C, Kuhn C, Franke WW. Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque. J Cell Biol. (1996) 135:1009–25. DOI: 10.1083/jcb.135.4.1009
12. Agullo-Pascual E, Reid D, Keegan S, et al. Super-resolution fluorescence microscopy of the cardiac connexome reveals plakophilin-2 inside the connexin43 plaque. Cardiovasc Res. (2013) 100:231–40. DOI: 10.1093/cvr/cvt191
13. Groeneweg JA, Bhonsale A, James CA, te Riele AS, Dooijes D, Tichnell C, et al. Clinical presentation, long-term follow-up, and outcomes of 1001 arrhythmogenic right ventricular dysplasia/cardiomyopathy patients and family members. Circ Cardiovasc Genet. (2015) 8:437–46. DOI: 10.1161/CIRCGENETICS.114.001003
14. Cerrone M1, Montnach J1, Lin X1, et al. Plakophilin-2 is required for transcription of genes that control calcium cycling and cardiac rhythm. Nat Commun. 2017 Jul 24;8(1):106. DOI: 10.1038/s41467-017-00127-0.
15. Kapplinger JD, Landstrom AP, Salisbury BA, Callis T, Pollevick GD, Tester DJ, et al. Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. J Am Coll Cardiol. (2011) 57:2317–27. DOI: 10.1016/j.jacc.2010.12.036
16. Ramond F, Janin A, Di Filippo S, et al. Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction. Clin Genet. 2017;91(1):126-130. DOI: 10.1111/cge.12780
Review
For citations:
Komissarova S., Rineiskaya N., Chakova N., Niyazova S., Dolmatovich T. CLINICAL CASE OF NON-COMPACTION CARDIOMYOPATHY IN A PATIENT WITH PKP2 GENE MUTATION. Eurasian heart journal. 2020;(3):106-111. (In Russ.) https://doi.org/10.38109/2225-1685-2020-3-106-111
Views:
536
Email this article 
