Family form of dilated cardiomyopathy-Reference-Cited by-同舟云学术

Family form of dilated cardiomyopathy

Published:2021-12-09 Issue:5 Volume:66 Page:202-206
ISSN:2500-2228
Container-title:Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)
language:
Short-container-title:Ross. vestn. perinatol. pediatr.

Author:

Sadykova D. I.¹,Makarova T. P.¹^ORCID,Sabirova D. R.¹^ORCID,Firsova N. N.²,Kucheryavaya A. A.²^ORCID,Shakurova N. V.¹^ORCID,Khasanova A. R.¹^ORCID

Affiliation:

1. Kazan State Medical University

2. Children’s Republican Clinical Hospital

Abstract

Cardiomyopathy (CMP) is classified into familial and non-familial, which reflects the need to study the genetic basis of the disease. The article describes a clinical case of a familial form of non-compact cardiomyopathy in combination with a dilated form of cardiomyopathy. The article provides data of echocardiographic and MRI studies. The diagnosis was confirmed by genetic research, there was revealed a mutation in the MYH7 gene p.IIe201Thr in a heterozygous state, which is associated with the development of non-compact cardiomyopathy and dilated form of cardiomyopathy.

Publisher

The National Academy of Pediatric Science and Innovation

Subject

Pediatrics, Perinatology, and Child Health

Reference7 articles.

1. Baranov A.A., Namazova-Baranova L.S. Clinical recommendation. Providing medical care to children with cardiomiopathies 2014; 4–10. (in Russ.)

2. Lipshultz S.E., Cochran T.R., Briston D.A., Brown S.R., Sambatakos P.J., Miller T.L. et al. Pediatric cardiomyopathies: causes, epidemiology, clinical course, preventive strategies and therapies. Future Cardiol 2013; 9: 817–848. DOI: 10.2217/fca.13.66

3. Wilkinson J., Landy D., Colan S., Towbin J., Sleeper L.A., Orav E.J. et al. The Pediatric Cardiomyopathy Registry and Heart Failure: Key Results from the First 15 Years. Heart Fail Clin 2010; 6(4): 401–413. DOI: 10.1016/j.hfc.2010.05.002

4. Nugent A., Daubeney P., Chondros P., Carlin J.B., Cheung M., Wilkinson L.C. et al. The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med 2003; 348: 1639–1646

5. Dimas V.V., Denfield S.W., Friedman R.A. et al. Frequency of cardiac death in children with idiopathic dilated cardiomyopathy Am J Cardiol 2009; 104(11): 1574–1577. DOI: 10.1016/j.amjcard

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Dynamics of Some Medical and Demographic Indicators in St. Petersburg During the Period from 2018 to 2023;Current Pediatrics;2024-07-12

2. ОСОБЕННОСТИ ТЕЧЕНИЯ КАРДИОМИОПАТИЙ В ДЕТСКОМ ВОЗРАСТЕ;Международный журнал научной педиатрии;2024-04-30