Mulibrey Nanism:一个心力衰竭的病例

Ahmet Yiğit Temizhan, Mehmet Numan Çolakoğlu, Meryem Kara, Etga Köprücü, Ahmet Korkmaz, Serkan Topaloğlu, Feride Pınar Altay, Ekin Yiğit Köroğlu, İnci Elif Erbahçeci Timur, Nagihan Uğurlu, Ahmet Temizhan
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引用次数: 0

摘要

Mulibrey Nanism 是一种罕见的遗传性疾病,其特征是多种系统性表现,包括心脏受累。我们报告了一例 26 岁男性患者的病例,他在 4 岁时因患缩窄性心包炎而接受了部分心包切除术,随后因心力衰竭症状来到我们的心脏病诊所就诊。检查发现他有穆里布雷侏儒症(Mulibrey Nanism)的畸形特征,如身材矮小、巨颅症和肥大。基因检测发现,TRIM37 基因可能存在同卵致病突变。患者的心力衰竭通过多学科方法进行治疗,包括与不同专科医师会诊,以解决和诊断该综合征复杂的多系统病理问题。本病例强调了在对幼年时有缩窄性心包炎病史和畸形特征的患者进行鉴别诊断时将穆利布雷侏儒症纳入其中的重要性,以及采用多学科方法处理这种罕见遗传性疾病的各种表现的必要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Mulibrey Nanism: A Case with Heart Failure.

Mulibrey Nanism is a rare genetic disorder characterized by a variety of systemic manifestations, including cardiac involvement. We report the case of a 26-year-old male who underwent partial pericardiectomy for constrictive pericarditis at age 4 and presented to our cardiology clinic with heart failure symptoms. Examination revealed dysmorphic features characteristic of Mulibrey Nanism such as short stature, macrocephaly, and hypertelorism. Genetic testing identified a homozygous likely pathogenic mutation in the TRIM37 gene. The patient's heart failure was managed through a multidisciplinary approach, involving consultations with various specialties to address and diagnose the syndrome's complex multisystem pathologies. This case underscores the importance of including Mulibrey Nanism in the differential diagnosis of patients with a history of constrictive pericarditis at an early age and dysmorphic features, as well as the necessity of a multidisciplinary approach to manage the diverse manifestations of this rare genetic disorder.

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