The clinical case of familial restrictive cardiomyopathy
D. I. Sadykova,
D. R. Sabirova,
Z. R. Khabibrakhmanova,
N. N. Firsova,
A. A. Kucheryavaya,
O. G. Pecheritsa,
A. A. Malov https://doi.org/10.21508/1027-4065-2019-64-5-215-219
Abstract
Restrictive cardiomyopathy often results in chronic heart failure. Knowledge of family history and genetic examination are extremely important for the early diagnostics of a family restrictive cardiomyopathy and prescription of non-specific therapy. The article describes clinical case of familial restrictive cardiomyopathy with a burdened family history.
About the Authors
D. I. Sadykova
Kazan State Medical University
Russian Federation
Kazan
Russian Federation
Kazan
D. R. Sabirova
Kazan State Medical University
Russian Federation
Kazan
Russian Federation
Kazan
Z. R. Khabibrakhmanova
Kazan State Medical University
Russian Federation
Kazan
Russian Federation
Kazan
N. N. Firsova
Children’s Republican Clinical Hospital
Russian Federation
Tatarstan
Russian Federation
Tatarstan
A. A. Kucheryavaya
Children’s Republican Clinical Hospital
Russian Federation
Tatarstan
Russian Federation
Tatarstan
O. G. Pecheritsa
Children’s Republican Clinical Hospital
Russian Federation
Tatarstan
Russian Federation
Tatarstan
A. A. Malov
Kazan State Medical University; Children’s Republican Clinical Hospital
Russian Federation
Russian Federation
Kazan
Tatarstan
References
1. Федеральные клинические рекомендации по оказанию медицинской помощи детям с кардиомиопатиями. Москва, 2014; 22. [Federal clinical recommendations for the provision of medical care to children with cardiomyopathy. Moscow, 2014; 22 (in Russ.)]
2. Quan J., Jia Z., Lv T., Zhang L., Liu L., Pan B. et al. Green tea extract catechin improves cardiac function in pediatric cardiomyopathy patients with diastolic dysfunction. J Biomed Sci 2019; 26: 32. DOI: 10.1186/s12929-019-0528-7
3. Katritsis D., Wilmshurst P.T., Wendon J.A., Davies M.J., Webb-Peploe M.M. Primary restrictive cardiomyopathy: clinical and pathologic characteristics. J Am Coll Cardiol 1991; 18(5): 1230–1235. DOI: 10.1016/0735-1097(91)90540-P
4. Seferović P.M., Polovina M., Bauersachs J., Arad M., Gal T.B. et al. Heart failure in cardiomyopathies: a position paper from the Heart Failure Association of the European Society of Cardiology. Eur J Heart Fail 2019; 21(5): 553–576. DOI: 10.1002/ejhf.1461
5. Muchtar E., Blauwet L.A., Gertz M.A. Restrictive Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy. Circ Res 2017; 121(7): 819–837. DOI: 10.1161/CIRCRESAHA.117.310982
6. Dadson K., Hauck L., Billia F. Molecular mechanisms in cardiomyopathy. Clin Sci ( Lond) 2017; 131(13): 1375–1392. DOI: 10.1042/CS20160170
7. Pitt B., Pfeffer M.A., Assmann S.F., Boineau R., Anand I.S., Claggett B. et al Spironolactone for heart failure with preserved ejection fraction. New Engl J Med 2014; 370(15): 1383–1392. DOI: 10.1056/NEJMoa1313731
8. Russo L.M., Webber S.A. Idiopathic restrictive cardiomyopathy in children. Heart 2005; 91: 1199–1202. DOI: 10.1136/hrt.2004.043869
9. Murtuza B., Fenton M., Burch M., Gupta A., Muthialu N. Pediatric heart transplantation for congenital and restrictive cardiomyopathy. Ann Thorac Surg 2013; 95: 1675–1684. DOI: 10.1016/j.athoracsur.2013.01.014
10. Pantou M.P., Gourzi P., Gkouziouta A., Armenis I., Kaklamanis L., Zygouri C. et al. A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3). BMC Med Genet 2019; 20(1): 61. DOI: 10.1186/s12881-019-0793-z
Review
For citations:
Sadykova D.I., Sabirova D.R., Khabibrakhmanova Z.R., Firsova N.N., Kucheryavaya A.A., Pecheritsa O.G., Malov A.A. The clinical case of familial restrictive cardiomyopathy. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2019;64(5):215-219. (In Russ.) https://doi.org/10.21508/1027-4065-2019-64-5-215-219
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