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高血压与短指综合征：遗传学见解及一种新的表现形式。

Hypertension and Brachydactyly Syndrome: Genetic Insights and a Novel Presentation.

作者信息

Shahid Abdulla, Shetty Naman S, Patel Nirav, McClinchey Taylor, Arora Garima, Arora Pankaj

机构信息

Division of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham, Alabama, USA.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

出版信息

JACC Case Rep. 2024 Apr 22;29(11):102343. doi: 10.1016/j.jaccas.2024.102343. eCollection 2024 Jun 5.

DOI:10.1016/j.jaccas.2024.102343
PMID:38689596
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11059297/
Abstract

Phosphodiesterase 3A () gene mutations have recently been associated with hypertension and brachydactyly syndrome (HTNB). This report shows how the recent recognition of the role of the gene in HTNB facilitated the diagnosis of HTNB in a 20-year-old female who could not be diagnosed at her initial presentation at 6 years of age.

摘要

磷酸二酯酶3A（）基因突变最近被发现与高血压和短指综合征（HTNB）有关。本报告展示了最近对该基因在HTNB中作用的认识如何促成了一名20岁女性HTNB的诊断，该女性在6岁首次就诊时未能被诊断出来。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd54/11059297/92a0a295032e/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd54/11059297/3e6627f25a82/ga1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd54/11059297/0efa58bddb48/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd54/11059297/6df29d9ccbfa/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd54/11059297/b13af4cca96f/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd54/11059297/92a0a295032e/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd54/11059297/3e6627f25a82/ga1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd54/11059297/0efa58bddb48/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd54/11059297/6df29d9ccbfa/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd54/11059297/b13af4cca96f/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd54/11059297/92a0a295032e/gr4.jpg

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本文引用的文献

1
Mutations in Phosphodiesterase 3A () Cause Hypertension Without Cardiac Damage.磷酸二酯酶 3A () 突变导致高血压而不伴有心脏损伤。
Hypertension. 2023 Jun;80(6):1171-1179. doi: 10.1161/HYPERTENSIONAHA.122.19433. Epub 2023 Apr 10.
2
Mutant Phosphodiesterase 3A Protects From Hypertension-Induced Cardiac Damage.突变型磷酸二酯酶 3A 可预防高血压引起的心脏损伤。
Circulation. 2022 Dec 6;146(23):1758-1778. doi: 10.1161/CIRCULATIONAHA.122.060210. Epub 2022 Oct 19.
3
Bicuspid Aortic Valve and Endothelial Dysfunction: Current Evidence and Potential Therapeutic Targets.
二叶式主动脉瓣与内皮功能障碍：当前证据及潜在治疗靶点
Front Physiol. 2020 Aug 21;11:1015. doi: 10.3389/fphys.2020.01015. eCollection 2020.
4
Hypertension and Brachydactyly Syndrome Associated With Vertebral Artery Malformation Caused by a PDE3A Missense Mutation.高血压并短指（趾）畸形综合征与 PDE3A 错义突变导致的椎动脉畸形相关。
Am J Hypertens. 2020 Feb 22;33(2):190-197. doi: 10.1093/ajh/hpz151.
5
Roles of A-Kinase Anchoring Proteins and Phosphodiesterases in the Cardiovascular System.A激酶锚定蛋白和磷酸二酯酶在心血管系统中的作用。
J Cardiovasc Dev Dis. 2018 Feb 20;5(1):14. doi: 10.3390/jcdd5010014.
6
PDE3A mutations cause autosomal dominant hypertension with brachydactyly.PDE3A 突变导致常染色体显性遗传性高血压伴短指（趾）畸形。
Nat Genet. 2015 Jun;47(6):647-53. doi: 10.1038/ng.3302. Epub 2015 May 11.
7
Childhood hypertension in autosomal-dominant hypertension with brachydactyly.常染色体显性遗传性颅缝早闭并指（趾）畸形相关性高血压的儿童高血压
Hypertension. 2010 Nov;56(5):988-94. doi: 10.1161/HYPERTENSIONAHA.110.156620. Epub 2010 Sep 13.