Aortic dissection in a young male with persistent ductus arteriosus and a novel variant in MYLK

Author:

Boelman Maria Bejerholm1ORCID,Hansen Thomas van Overeem12ORCID,Smith Matthias Nybro1ORCID,Hammer‐Hansen Sophia1ORCID,Christensen Alex Hørby3ORCID,Diness Birgitte Rode12ORCID

Affiliation:

1. Department of Clinical Genetics Rigshospitalet Copenhagen Denmark

2. Faculty of Health and Medical Sciences, Department of Clinical Medicine University of Copenhagen Copenhagen Denmark

3. Department of Cardiology Rigshospitalet and Herlev‐Gentofte Copenhagen Denmark

Abstract

AbstractPathogenic variants in several genes involved in the function or regulation of smooth muscle cells (SMC) are known to predispose to congenital heart disease and thoracic aortic aneurysm and dissection (TAAD). Variants in MYLK are primarily known to predispose to TAAD, but a growing body of evidence points toward MYLK also playing an essential role in the regulation of SMC contraction outside the aorta. In this case report, we present a patient with co‐occurrence of persistent ductus arteriosus (PDA) and thoracic aortic dissection. Genetic analyses revealed a novel splice acceptor variant (c.3986‐1G > A) in MYLK, which segregated with disease in the family. RNA‐analyses on fibroblasts showed that the variant induced skipping of exon 24, which resulted in an in‐frame deletion of 101 amino acids. These findings suggest that MYLK‐associated disease could include a broader phenotypic spectrum than isolated TAAD, including PDA and obstructive pulmonary disease. Genetic analyses could be considered in families with TAAD and PDA or obstructive pulmonary disease.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3