Non-syndromic thoracic aortic aneurysms and dissections--a genetic review.

Pengyu Zhang, Eryong Zhang, Jingxiu Fan, Jun Gu

Journal: Frontiers in bioscience (Landmark edition) 2013;18(1):305-11

PMID: 23276923

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Abstract

Thoracic aortic aneurysm and dissections (TAADs) are associated with both high mortality and medical expense. Poor outcomes are preventable by surgical repair; however, identifying individuals at-risk is difficult. Researchers are scanning the human genome to characterize the genetic determinants of TAADs by identifying chromosomal regions, gene mutations, single nucleotide polymorphism (SNP), genomic copy number variants and micro-RNA variants, with the purpose of analyzing the risk of TAADs associated with these predisposing genes. The goal of this review is to develop screening tests to identify individuals at risk for non-syndromic TAADs. This genetic survey has significant clinical implications because high-risk individuals can be closely monitored and can benefit from preventative surgical repair.

Address: Cardiovascular and Thoracic Surgery Department, West China Hospital of Sichuan University, No. 17 Third Section of South Renmin Road, Chengdu, China.

DOI: 10.2741/4101

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https://www.imrpress.com/journal/FBL/18/1/10.2741/...

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https://scite.ai/reports/23276923

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https://assays.cancer.gov/non-CPTAC-4047

MeSH Terms: Actins, Aortic Dissection, Aortic Aneurysm, Thoracic, Calcium-Binding Proteins, Gene Dosage, Genetic Predisposition to Disease, Humans, Matrix Metalloproteinase 9, MicroRNAs, Middle Aged, Mutation, Myosin Heavy Chains, Myosin-Light-Chain Kinase, Polymorphism, Single Nucleotide, Protein Serine-Threonine Kinases, Receptor, Transforming Growth Factor-beta Type I, Receptor, Transforming Growth Factor-beta Type II, Receptors, Transforming Growth Factor beta, Smad3 Protein