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Case report: Echocardiographic diagnosis of cardiac involvement caused by congenital generalized lipodystrophy in an infant

We herein first report the use of conventional echocardiography combined with two-dimensional speckle-tracking to diagnose and monitor the changing process of cardiac involvement in an infant with congenital lipodystrophy. An 8-month-old girl was admitted to our hospital after first presenting at th...

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Autores principales: Zhou, Jie, Liu, Hanmin, Chen, Jiao, He, Xiaolan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10076737/
https://www.ncbi.nlm.nih.gov/pubmed/37033184
http://dx.doi.org/10.3389/fped.2023.1087833
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author Zhou, Jie
Liu, Hanmin
Chen, Jiao
He, Xiaolan
author_facet Zhou, Jie
Liu, Hanmin
Chen, Jiao
He, Xiaolan
author_sort Zhou, Jie
collection PubMed
description We herein first report the use of conventional echocardiography combined with two-dimensional speckle-tracking to diagnose and monitor the changing process of cardiac involvement in an infant with congenital lipodystrophy. An 8-month-old girl was admitted to our hospital after first presenting at the age of 3 months with abnormal facial features that had been noticed within 4 weeks of birth. Echocardiography performed at the age of 3 months showed only slightly accelerated blood flow in the right ventricular outflow tract. At the age of 5 months, echocardiography showed myocardial hypertrophy; this finding combined with the physical characteristics and other examination results led to the consideration of congenital lipodystrophy. Genetic testing at the age of 9 months confirmed type 2 congenital lipodystrophy caused by BSCL2 gene mutation, and dietary modification was initiated. Conventional echocardiography performed at the ages of 5, 8, and 14 months showed no significant changes and a normal ejection fraction. However, two-dimensional speckle-tracking performed between the ages of 5 and 8 months showed cardiac systolic abnormalities that tended to improve after treatment. This case highlights the value of echocardiography in detecting structural and early functional cardiac changes in infants with congenital lipodystrophy.
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spelling pubmed-100767372023-04-07 Case report: Echocardiographic diagnosis of cardiac involvement caused by congenital generalized lipodystrophy in an infant Zhou, Jie Liu, Hanmin Chen, Jiao He, Xiaolan Front Pediatr Pediatrics We herein first report the use of conventional echocardiography combined with two-dimensional speckle-tracking to diagnose and monitor the changing process of cardiac involvement in an infant with congenital lipodystrophy. An 8-month-old girl was admitted to our hospital after first presenting at the age of 3 months with abnormal facial features that had been noticed within 4 weeks of birth. Echocardiography performed at the age of 3 months showed only slightly accelerated blood flow in the right ventricular outflow tract. At the age of 5 months, echocardiography showed myocardial hypertrophy; this finding combined with the physical characteristics and other examination results led to the consideration of congenital lipodystrophy. Genetic testing at the age of 9 months confirmed type 2 congenital lipodystrophy caused by BSCL2 gene mutation, and dietary modification was initiated. Conventional echocardiography performed at the ages of 5, 8, and 14 months showed no significant changes and a normal ejection fraction. However, two-dimensional speckle-tracking performed between the ages of 5 and 8 months showed cardiac systolic abnormalities that tended to improve after treatment. This case highlights the value of echocardiography in detecting structural and early functional cardiac changes in infants with congenital lipodystrophy. Frontiers Media S.A. 2023-03-23 /pmc/articles/PMC10076737/ /pubmed/37033184 http://dx.doi.org/10.3389/fped.2023.1087833 Text en © 2023 Zhou, Liu, Chen and He. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Zhou, Jie
Liu, Hanmin
Chen, Jiao
He, Xiaolan
Case report: Echocardiographic diagnosis of cardiac involvement caused by congenital generalized lipodystrophy in an infant
title Case report: Echocardiographic diagnosis of cardiac involvement caused by congenital generalized lipodystrophy in an infant
title_full Case report: Echocardiographic diagnosis of cardiac involvement caused by congenital generalized lipodystrophy in an infant
title_fullStr Case report: Echocardiographic diagnosis of cardiac involvement caused by congenital generalized lipodystrophy in an infant
title_full_unstemmed Case report: Echocardiographic diagnosis of cardiac involvement caused by congenital generalized lipodystrophy in an infant
title_short Case report: Echocardiographic diagnosis of cardiac involvement caused by congenital generalized lipodystrophy in an infant
title_sort case report: echocardiographic diagnosis of cardiac involvement caused by congenital generalized lipodystrophy in an infant
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10076737/
https://www.ncbi.nlm.nih.gov/pubmed/37033184
http://dx.doi.org/10.3389/fped.2023.1087833
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