{"doi":"10.20517/2574-1209.2023.55","title":"Current understanding of the genetics of thoracic aortic disease","abstract":"Thoracic aortic dissection is a feared, highly lethal condition most commonly developing from aneurysmal dilation of the thoracic aorta. Elective prophylactic replacement of thoracic aortic aneurysms dramatically mitigates this risk. However, diagnosis of a thoracic aortic aneurysm can be challenging. Thoracic aortic disease - horacic aortic aneurysm and dissection (TAAD) - can be sporadic or heritable. Patients with syndromic heritable TAAD present with classic phenotype and clinical features correlating to their disease. In contrast, patients with non-syndromic heritable disease are harder to diagnose due to their lack of defining uniform phenotypes. Recent advances in genomics have begun to elucidate the genetic underpinnings of non-syndromic TAAD (ns-TAAD) for better understanding this complex disease and improve diagnosis and management. Herein, we review the foundation of knowledge in ns-TAAD heritability and key research studies identifying gene mutations in vascular smooth muscle cells, the extracellular matrix, and TGF-beta signaling present in ns-TAAD. We summarize the current guidelines for the diagnosis, screening, and surgical management of ns-TAAD including recommendations for genetic testing of high-risk individuals. Finally, we highlight areas of future research that will continue to advance our understanding of the complex genetic and epigenetic factors in TAAD.","journal":"Vessel Plus","year":2024,"id":451285,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":3,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9582,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":770134,"name":"Megan Zak","orcid":"0000-0002-8227-8836","position":1,"is_corresponding":false},{"id":1233,"name":"Jason P. Glotzbach","orcid":"0000-0002-8002-9422","position":2,"is_corresponding":false},{"id":561036,"name":"Lauren Levy","orcid":"0000-0002-4420-1993","position":0,"is_corresponding":true}],"reference_count":73,"raw_metadata":null,"created_at":"2026-07-19T02:02:41.417944Z","pmid":"40337343","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}