3 . 2020

Familial case of dilated cardiomyopathy: organ preserving heart remodeling, and etiological diagnosis over the generation

Abstract

Heart failure (HF) is one of the central problems in the modern cardiology. Inherited non-ischemic dilated cardiomyopathy (DCM) is a significant part of this life-threatening entity. Conservative treatment for DCM has limited effectiveness. Along with orthotopic heart transplantation and implantation of a permanent left ventricular assist devices, there are organ-preserving surgical approaches such as reverse cardiac remodeling operation (RCRO). Genetic testing plays an important role in clarifying the causes of DCM.

Here we describe a family history of two generations with DCM, and a detailed description of the first experience of RCRO performed in the patient with a «big heart» in 1999. An accurate diagnosis was established retrospectively, in 20 years after the surgery, analysing the clinical phenotype and genotype of his daughter.

Based on the experience of the subsequent 41 operations of RCRO, we believe that this method of surgical correction of heart failure can serve as an effective prolonged bridge to heart transplantation. Performed in expert centres, this operation can take its own place based on careful and timely selection of patients. The practical application of the cardiogenetics potential allows careful analysis of clinical and genetic data of family members, and performs a long-term prognosis and personalized treatment.

Keywords:dilated cardiomyopathy, reverse cardiac remodeling operation, non-ischemic cardiomyopathy, heart transplantation, DNA diagnostics

Funding. This work was supported by the Russian Science Foundation (grant 16-15-10421).
Conflict of interests. The authors declare no conflict of interests.
For citation: Dzemeshkevich S.L., Korolyev S.V., Ilyina L.N., Dombrovskaya A.V., Zaklyazminskaya E.V. Familial case of dilated cardiomyopathy: organ preserving heart remodeling, and etiological diagnosis over the generation. Clinical and Experimental Surgery. Petrovsky Journal. 2020; 8 (3): 79-86. DOI: https://doi.org/10.33029/2308-1198-2020-8-3-79-86 (in Russian)

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