Medical imaging features and genetics analysis of patients with bicuspid aortic valve aortic disease related gene mutations

QU Yichen; LI Yijia; LI Yuling; XIE Jinjie; CONG Mei; LI Rongjuan; ZHANG Han; WANG Yueli; SONG Li; LI Jing; YANG Ya

doi:10.16245/j.cnki.issn1008-6978.2020.04.020

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Medical imaging features and genetics analysis of patients with bicuspid aortic valve aortic disease related gene mutations

更新时间：2021-10-08

- Medical imaging features and genetics analysis of patients with bicuspid aortic valve aortic disease related gene mutations
- Journal of Clinical Ultrasound in Medicine Vol. 22, Issue 4, Pages: 296-299(2020)
- 作者机构：
  
  1. 首都医科大学附属北京安贞医院超声心动图一部
  2. 首都医科大学附属北京安贞医院心肺研究所
- 作者简介：
- 基金信息：
- DOI：10.16245/j.cnki.issn1008-6978.2020.04.020
  CLC： R540.45;R542.5
- Published：2020，
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[1]曲浥晨,李宜嘉,李玉琳,谢谨捷,崇梅,李嵘娟,张涵,王月丽,宋砾,李菁,杨娅.二叶式主动脉瓣主动脉病变相关基因突变者的影像学特征与遗传学分析[J].临床超声医学杂志,2020,22(04):296-299.

QU Yichen, LI Yijia, LI Yuling, et al. Medical imaging features and genetics analysis of patients with bicuspid aortic valve aortic disease related gene mutations. [J]. Journal of Clinical Ultrasound in Medicine 22(4):296-299(2020)
[1]曲浥晨,李宜嘉,李玉琳,谢谨捷,崇梅,李嵘娟,张涵,王月丽,宋砾,李菁,杨娅.二叶式主动脉瓣主动脉病变相关基因突变者的影像学特征与遗传学分析[J].临床超声医学杂志,2020,22(04):296-299. DOI： 10.16245/j.cnki.issn1008-6978.2020.04.020.

QU Yichen, LI Yijia, LI Yuling, et al. Medical imaging features and genetics analysis of patients with bicuspid aortic valve aortic disease related gene mutations. [J]. Journal of Clinical Ultrasound in Medicine 22(4):296-299(2020) DOI： 10.16245/j.cnki.issn1008-6978.2020.04.020.

摘要

目的探讨主动脉病变相关基因与二叶式主动脉瓣（BAV）相关性主动脉病变的关系。方法选取行Bentall手术并检测到主动脉病变相关基因突变的8例BAV患者

应用超声心动图评估其BAV分型、瓣膜功能及升主动脉内径等指标;收集其外周血并对主动脉疾病相关基因进行筛查

对变异进行致病性预测;记录患者一般临床参数及实验室检查结果。结果 8例患者中5例主动脉最宽处位于升主动脉管部

3例位于主动脉窦部。2例以主动脉瓣狭窄表现为主

5例以主动脉瓣关闭不全表现为主

1例主动脉瓣狭窄与关闭不全程度相当。4例患者FBN1基因突变（分别为c.2926C>Tp.Arg976Cys、c.2374T>Cp.Cys792Arg、c.2639G>Ap.Gly880Asp、c.6700G>Ap.Val2234Met）

2例COL3A1基因突变（分别为c.2190A>Tp.GLU730Asp、c.2181G>Ap.Met727Ile）

1例MYLK基因突变（c.1414C>Tp.Leu472Phe）

1例TGFBR1基因突变（c.134A>Gp.Asn45Ser）。8例患者中1例FBN1基因突变患者为Sievers0型BAV

余7例均为SieversⅠ型BAV

其中RL亚型6例

RN亚型1例。3例FBN1基因突变患者（c.2926C>Tp.Arg976Cys

c.2374T>Cp.Cys792Arg

c.2639G>Ap.Gly880Asp）经3个突变评价软件预测均为可能致病性突变

该3例患者胸主动脉最大径显著高于其他患者。结论基因变异相关的解剖结构异常及主动脉瓣功能改变所引起的血流动力学变化可能共同导致了BAV患者不同类型的主动脉病变。

Abstract

Objective To investigate the correlation of aortic disease related genes in bicuspid aortopathy.Methods Eight bicuspid aortic valve（BAV） patients who underwent Bentall surgery and found variants of reported aortic disease related genes were included.Echocardiography was used to evaluate the BAV classification

valve function

ascending aortic diameter.Blood index was collected and aortic disease-related genes were screened to predict the pathogenicity of the mutations.General clinical parameters and laboratory examination results of the patients were recorded.Results Among8 included patients

the widest part of the aorta was located in the tubular ascending aorta in 5 cases and the aorta sinus in 3 cases.2 cases were predominant aortic stenosis

while 5 were predominant aortic regurgitation

and 1 was comparable to aortic stenosis and regurgitation.There were 4 cases of FBN1 gene mutation（c.2926C> Tp.Arg976Cys

c.2374T>Cp.Cys792Arg

c.2639G>Ap.Gly880Asp

c.6700G>Ap.Val2234 Met）

2 cases of COL3 A1 gene mutation（c.2190A>Tp.GLU730Asp

c.2181G>Ap.Met727 Ile）

1 case of MYLK gene mutation（c.1414 C>Tp.Leu472 Phe）

and 1 case of TGFBR1 gene mutation（c.134A>Gp.Asn45Ser）.Except1 case with FBN1 gene mutation had BAV of Sievers type 0

the remaining 7 were all Sievers type I

including 6 cases of RL fusion pattern and 1 case with RN fusion pattern.The maximum diameters of thoracic aorta of 3 patients with FBN1 gene mutations（c.2926C>Tp.Arg976Cys

c.2374T>Cp.Cys792Arg

c.2639G>Ap.Gly880Asp）

which predicted by all 3 software to possible pathogenic mutations

were significantly higher than those of the patients with other gene mutations.Conclusion Genetic variation related anatomic abnormalities and hemodynamic changes associated with aortic valve dysfunction may jointly lead to different types of bicuspid aortopathy.

关键词

超声心动描记术主动脉瓣二叶式主动脉病变基因

Keywords

EchocardiographyAortic valvebicuspidAortopathyGene

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