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2022, Number 4

Cardiovasc Metab Sci 2022; 33 (4)

Restrictive cardiomyopathy in a paediatric patient: a case report

Ramírez, Óscar; Solano, Jhiamluka; Torres, Angie; Discua, Liliam

ABSTRACT

Restrictive cardiomyopathy is characterized by a severe diastolic impairment with a normal systolic function. It is the least common of all cardiomyopathies among paediatric patients. Restrictive cardiomyopathy has a poor prognosis and commonly requires a cardiac transplant. We present a case of a 12-year-old patient with four months history of heart failure symptoms and first-degree family history confirmed heterozygous mutation in the TNNI3 encoder. This paper is presented to emphasize the importance of genetic studies in families who have different cardiac phenotypes.
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Keywords

restrictive cardiomyopathy TNNI3 gene diastolic heart failure atrial remodeling




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Cardiovascular and Metabolic Science Vol. 33, Num. 4, Octubre-Diciembre 2022. Es una publicación trimestral editada por la Asociación Nacional de Cardiólogos de México. Magdalena 135. Col. Del Valle. Del. Benito Juárez. Ciudad de México, México. C.P. 03103. Tel. 5556368002 https://www.cardiovascularandmetabolicscience.org.mx/ ancam@ancam.org.mx Editor responsable. Dr. Eduardo Meaney Mendiolea. Reserva de Derechos al Uso Exclusivo Nº 04-2019-061316491900-203. ISSN: 2683-2828 versión impresa y 2954-3835 versión electrónica. Ambos otorgados por el Instituto Nacional del Derecho de Autor. Responsable de la última actualización de este número, Departamento de Internet, Graphimedic, S.A. de C.V., Ing. Luis Rosales Jiménez, Coquimbo 936, Col. Lindavista, Delegación Gustavo A. Madero, C.P. 07300, Ciudad de México, México. Fecha de última modificación, 22 de marzo de 2023.

 

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