Open AccessCLINICAL CASE OF NON-COMPACTION CARDIOMYOPATHY IN A PATIENT WITH PKP2 GENE MUTATION
Author(s) -
С. М. Комиссарова,
Н. М. Ринейская,
Н. Н. Чакова,
С. С. Ниязова,
Т. В. Долматович
Publication year - 2020
Publication title -
evrazijskij kardiologičeskij žurnal
Language(s) - English
Resource type - Journals
eISSN - 2305-0748
pISSN - 2225-1685
DOI - 10.38109/2225-1685-2020-3-106-111
Subject(s) - missense mutation , medicine , cardiomyopathy , cardiology , heart failure , gene mutation , disease , dilated cardiomyopathy , mutation , phenotype , genetic testing , genetics , gene , biology
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.