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多发性脂肪营养不良:一例心力衰竭病例。

Mulibrey Nanism: A Case with Heart Failure.

机构信息

Department of Cardiology, Ankara Bilkent City Hospital, Ankara, Türkiye.

Department of Radiology, Ankara Bilkent City Hospital, Ankara, Türkiye.

出版信息

Turk Kardiyol Dern Ars. 2024 Sep;52(6):464-467. doi: 10.5543/tkda.2023.95443.

Abstract

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.

摘要

穆利布雷耶纳米综合征是一种罕见的遗传性疾病,其特征为多种全身表现,包括心脏受累。我们报告了一例 26 岁男性患者,他在 4 岁时因缩窄性心包炎接受了部分心包切除术,并因心力衰竭症状就诊于我们的心脏病学诊所。检查显示出穆利布雷耶纳米综合征的典型畸形特征,如身材矮小、大头畸形和内斜视。基因检测发现 TRIM37 基因的纯合可能致病性突变。通过多学科方法管理患者的心力衰竭,涉及与多个专业进行咨询,以解决和诊断该综合征的复杂多系统病理学。该病例强调了在具有幼年缩窄性心包炎病史和畸形特征的患者中,将穆利布雷耶纳米综合征纳入鉴别诊断的重要性,以及需要多学科方法来管理这种罕见遗传疾病的多种表现。

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