Abstract
The article presents the problem of heritable disorders of connective tissue from the position of a cardiologist. The main problems of diagnosing hereditary dysplasias, clinical syndromes and genes responsible for their occurrence are given. The lesion of the aorta in patients with hereditary connective tissue disorder is presented, the classification of aneurysm and dissection of the aorta in these patients is given. Reasonable expediency of prescribing genetic testing in patients and their family members with heritable disorders of connective tissue.
References
Бенца ТМ. Дисплазія сполучної тканини: особливості клінічних проявів, діагностики та лікування / ТМ Бенца. Ліки України. 2021;7:28-31.
Жураєв РК. Розшарування аневризми аорти: визначення, етіологія, патоморфологія, класифікація, клініка, діагностика та лікування. Серце і судини. 2012;3:102-107.
Harris SL, Lindsay ME. Role of Clinical Genetic Testing in the Management of Aortopathies. Curr Cardiol Rep. 2021 Jan 21;23(2):10. doi: 10.1007/s11886-020-01435-6. PMID: 33475873.
National Academies of Sciences, Engineering, and Medicine; Health and Medicine Division; Board on Health Care Services; Committee on Selected Heritable Disorders of Connective Tissue and Disability. Selected Heritable Disorders of Connective Tissue and Disability. Wedge RA, Cartaxo T, Spicer CM, Volberding PA, editors. Washington (DC): National Academies Press (US); 2022 Jul 8. PMID: 36223440.
Odofin X, Houbby N, Hagana A, Nasser I, Ahmed A, Harky A. Thoracic aortic aneurysms in patients with heritable connective tissue disease. J Card Surg. 2021 Mar;36(3):1083-1090. doi: 10.1111/jocs.15340. Epub 2021 Jan 21. PMID: 33476431.
Steinle J, Hossain WA, Veatch OJ, Strom SP, Butler MG. Next-generation sequencing and analysis of consecutive patients referred for connective tissue disorders. Am J Med Genet A. 2022 Oct;188(10):3016-3023. doi: 10.1002/ajmg.a.62905. Epub 2022 Jul 29. PMID: 35903967; PMCID: PMC9484002.
Wheeler JB, Ikonomidis JS, Jones JA. Connective Tissue Disorders and Cardiovascular Complications: The Indomitable Role of Transforming Growth Factor-β Signaling. Adv Exp Med Biol. 2021;1348:161-184.
Veatch OJ, Steinle J, Hossain WA, Butler MG. Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study. BMC Med Genomics. 2022 Aug 2;15(1):169. doi: 10.1186/s12920-022-01321-w. PMID: 35918752; PMCID: PMC9344629.