CLINICAL CASE OF FAMILIAL CARDIOMYOPATHY
Main Article Content
Abstract
Cardiomyopathy, according to the definition of the WHO Committee of Experts, is a heterogeneous group of chronic diseases of the heart muscle of unknown etiology, not associated with heart disease, systemic or pulmonary hypertension, congenital or acquired heart defects or metabolic disorders. WHO in 1995 proposed a classification of cardiomyopathies and identified the so-called unclassifiable form (fibroelastosis, etc.). Fibroelastosis is characterized by diffuse proliferation of elastic tissue in the endocardium and subendocardial layers of the myocardium. The etiology is unknown, the hereditary genesis of the disease is assumed. The clinical manifestation of the disease is the first half of life. The course of the disease can be lightning-fast, acute and subacute. The prognosis is unfavorable.
This article describes a clinical case of familial cardiomyopathy.
Keywords
Article Details
Information about financing and conflict of interests
The authors declare that they have no apparent or potential conflicts of interest related to the publication of this article.
This work is licensed under a Creative Commons Attribution 4.0 License.
How to Cite
References
McKenna WJ, Maron BJ, Thiene G. Classification, epidemiology, and global burden of cardiomyopathies. Circ Res. 2017; 121(7): 722-730. doi: 10.1161/ CIRCRESAHA.117.309711
Burke MA, Cook SA, Seidman JG, Seidman CE. Clinical and mechanistic insights into the genetics of cardiomyopathy. J Am Coll Cardiol. 2016; 68(25): 2871-2886. doi: 10.1016/j.jacc.2016.08.079
Kostareva A, Kiselev A, Gudkova A, Frishman G, Ruepp A, Frishman D, et al. Genetic spectrum of idiopathic restrictive cardiomyopathy uncovered by next-generation sequencing. PLoS One. 2016; 11(9): e0163362. doi: 10.1371/journal.pone.0163362
Gallego-Delgado M, Delgado JF, Brossa-Loidi V, Palomo J, Marzoa-Rivas R, Perez-Villa F, et al. Idiopathic restrictive cardiomyopathy is primarily a genetic disease. J Am Coll Cardiol. 2016; 67(25): 3021-3023. doi: 10.1016/j.jacc.2016.04.024
Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuireKJ, et al. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2017; 19(2): 192-203. doi: 10.1038/ gim.2016.90
Ushakova GA, Elgina SI. Problems of preserving the medical and biological potential of the population's reproduction in the region (socio-hygienic and clinical problems of child reproduction). Kemerovo, 1999. 109 p. Russian (Ушакова Г.А., Елгина С.И. Проблемы сохранения медико-биологического потенциала воспроизводства населения в регионе (социально-гигиенические и клинические проблемы детской репродуктологии). Кемерово, 1999. 109 с.)
Brodehl A, Dieding M, Biere N, UngerA, Klauke B, Walhorn V, et al. Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect. J Mol Cell Cardiol. 2016; 91: 207-214. doi: 10.1016/j. yjmcc.2015.12.015
Harada H, Hayashi T, Nishi H, Kusaba K, Koga Y, Koga Y, et al. Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy. J Hum Genet. 2018; 63(2): 249-254. doi: 10.1038/s10038-017-0383-x
Ojrzynska N, Bilinska ZT, Franaszczyk M, Płoski R, Grzybowski J. Restrictive cardiomyopathy due to novel desmin gene mutation. Kardiol Pol. 2017; 75(7): 723. doi: 10.5603/KP.2017.0129
Eligna SI. The reproductive system of girls at the time of birth and prevention of violations of its formation in the postnatal period: author. dis. … doct. med. sciences. Omsk, 2009. 38 p. Russian (Елгина С.И. Репродуктивная система девочек на момент рождения и профилактика нарушений ее становления в постнатальном периоде: автореф. дис. ... докт. мед. наук. Омск, 2009. 38 с.)
Schirmer I, Dieding M, Klauke B, Brodehl A, Gaertner-Rommel A, Walhorn V, et al. A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy. Mol Genet Genomic Med. 2018; 6(2): 288-293. doi: 10.1002/mgg3.358
Charrier EE, Asnacios A, Milloud R, De Mets R, Balland M, Delort F, et al. Desmin mutation in the C-terminal domain impairs traction force generation in myoblasts. Biophys J. 2016; 110(2): 470-480. doi: 10.1016/j. bpj.2015.11.3518
Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W, et al. Mutations in FLNC are associated with familial restrictive cardiomyopathy. Hum Mutat. 2016; 37(3): 269-279. doi: 10.1002/ humu.22942
Ploski R, Rydzanicz M, Ksiazczyk TM, Franaszczyk M, Pollak A, Kosinska J, et al. Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy. Am J Med Genet A. 2016; 170(12): 3241-3248. doi: 10.1002/ajmg.a.37860
Brodehl A, Gaertner-Rommel A, Milting H. Molecular insights into cardiomyopathies associated with desmin (DES) mutations. BiophysRev. 2018; 10(4): 983-1006. doi: 10.1007/s12551-018-0429-0