Cardio-Respiratory Complications in Adult Monozygotic Twins With Myhre Syndrome.

IF 4.4 3区 医学 Q2 GENETICS & HEREDITY
Hyoungjun Sim, Forrest Wilke, Emily Hamburger, Charlie J Sang, Clara Hildebrandt
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引用次数: 0

Abstract

Myhre syndrome is a rare connective tissue disorder characterized by skeletal, cardiopulmonary, dermatologic, neurocognitive changes, and a predisposition to exaggerated fibrosis in response to mechanical stress. We report monozygotic male twins with Myhre syndrome caused by the recurrent SMAD4 gain-of-function variant c.1498A>G (p.Ile500Val), identified by targeted next-generation sequencing of peripheral blood. Proband 1 presented at age 37 years for evaluation of symptomatic aortic stenosis. Clinical recognition of Myhre syndrome prompted deferral of transesophageal echocardiography, and molecular diagnosis informed subsequent conservative management. His co-twin, Proband 2, underwent posterior pharyngeal flap surgery and right-heart catheterization with pulmonary artery stenting in childhood; later, he developed progressive pulmonary arterial hypertension and died at 31 years. We report on the differing outcomes of the twins and the possibility that invasive airway and cardiac procedures may have accelerated fibro-proliferative complications of Proband 2. Early recognition of Myhre syndrome allows selection of alternatives to high-risk procedures, longitudinal monitoring, and may reduce morbidity and mortality.

Myhre综合征成年同卵双胞胎的心肺并发症。
Myhre综合征是一种罕见的结缔组织疾病,其特征是骨骼、心肺、皮肤、神经认知等方面的改变,以及在机械应力作用下易发生纤维化。我们报道了由复发性SMAD4功能获得性变异c.1498A>G (p.l e500val)引起的Myhre综合征的同卵男性双胞胎,通过外周血靶向下一代测序鉴定。先证者1在37岁时出现,用于评估症状性主动脉狭窄。临床对Myhre综合征的认识促使了经食管超声心动图的延期,分子诊断提示了随后的保守治疗。他的孪生兄弟,先证者2,在童年时接受了咽后瓣手术和右心导管置入肺动脉支架;后来,他患上了进行性肺动脉高压,31岁时去世。我们报告了双胞胎的不同结果,以及侵入性气道和心脏手术可能加速Proband 2的纤维增殖性并发症的可能性。早期识别Myhre综合征可以选择替代高风险手术,进行纵向监测,并可能降低发病率和死亡率。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
7.00
自引率
0.00%
发文量
42
审稿时长
>12 weeks
期刊介绍: Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.
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