Case Report: Efficacy and safety of recombinant growth hormone therapy in a girl with Loeys–Dietz syndrome

Case Report: Efficacy and safety of recombinant growth hormone therapy in a girl with Loeys–Dietz syndrome

BackgroundLoeys–Dietz syndrome (LDS) is a clinically and genetically heterogeneous, autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. We present the case of a 16.5-year-old girl with LDS type 2 (LDS2) caused by a heterozygous pathogenic variant, c.1582C>T (p.Ar...

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Main Authors: Kamil Dyrka, Aleksander Jamsheer, Michal Bartecki, Waldemar Bobkowski, Malgorzata Pawelec-Wojtalik, Justyna Rajewska-Tabor, Andzelika Tomaszewska, Justyna Balcerzak, Zuzanna Aniol, Marek Niedziela, Monika Obara-Moszynska
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
Loeys-Dietz syndrome
TGFβR2
recombinant growth hormone
cardiovascular system
short stature
Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2024.1377510/full
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