Cardiovascular involvement and prognosis in Loeys-Dietz syndrome.

Autor:	Chmielewski P; Unit for Screening Studies in Inherited Cardiovascular Diseases, Cardinal Stefan Wyszyński National Institute of Cardiology, Warszawa, Poland., Ponińska JK; Department of Medical Biology, Cardinal Stefan Wyszyński National Institute of Cardiology, Warszawa, Poland., Michalak E; Unit for Screening Studies in Inherited Cardiovascular Diseases, Cardinal Stefan Wyszyński National Institute of Cardiology, Warszawa, Poland., Michałowska I; Department of Radiology, Cardinal Stefan Wyszyński National Institute of Cardiology, Warszawa, Poland., Kowalik I; Clinical Research Support Center, Cardinal Stefan Wyszyński National Institute of Cardiology, Warszawa, Poland., Truszkowska G; Department of Medical Biology, Cardinal Stefan Wyszyński National Institute of Cardiology, Warszawa, Poland., Kugaudo M; Unit for Screening Studies in Inherited Cardiovascular Diseases, Cardinal Stefan Wyszyński National Institute of Cardiology, Warszawa, Poland., Minota I; Department of Medical Biology, Cardinal Stefan Wyszyński National Institute of Cardiology, Warszawa, Poland., Stawiński P; Department of Medical Genetics, Centre of Biostructure, Medical University of Warsaw, Warszawa, Poland., Płoski R; Department of Medical Biology, Cardinal Stefan Wyszyński National Institute of Cardiology, Warszawa, Poland.; Department of Medical Genetics, Centre of Biostructure, Medical University of Warsaw, Warszawa, Poland., Bilińska ZT; Unit for Screening Studies in Inherited Cardiovascular Diseases, Cardinal Stefan Wyszyński National Institute of Cardiology, Warszawa, Poland. z.bilinska@ikard.pl.
Jazyk:	angličtina
Zdroj:	Kardiologia polska [Kardiol Pol] 2023; Vol. 81 (11), pp. 1096-1102. Date of Electronic Publication: 2023 Oct 12.
DOI:	10.33963/v.kp.97390
Abstrakt:	Background: Loeys-Dietz syndrome (LDS) is an inherited connective tissue disorder associated with aortic root enlargement and risk of thoracic aortic dissection (AD). Genetic examination is essential for diagnosis. Aims: The study aimed at analysis of clinical data on cardiovascular involvement and management of LDS patients. Methods: The study included carriers of LDS-associated genetic variants, identified between 2012 and 2022. Assessment of cardiovascular involvement was based on echocardiography and computed tomography angiography with quantitative assessment of arterial tortuosity. Involvement of other systems was also evaluated. We noted major cardiovascular events, including aortic events, defined as AD, elective aortic surgery, or otherwise unexplained sudden death. Results: Thirty-four patients from 15 families were included, and five identified variants were novel. Probands' mean age was 41 years. Cardiovascular abnormalities, aortic involvement, aortic tortuosity, and tortuosity of cervical arteries were present in 79%, 71%, 68%, and 100% of carriers, respectively. First aortic events (9 A-type AD, 6 elective thoracic aortic surgeries, and one sudden death) occurred in 16 (47%) patients at a median age of 35 years. The youngest age at AD was 16 years, and 7 years for elective aneurysm repair. Second and third aortic events occurred in 9 and 4 patients, respectively. Eight patients (24%) experienced other major cardiovascular events. Aortic event-free survival was shorter in the presence of skin striae (P = 0.03), tended to be shorter in the presence of Marfanoid features (P = 0.06), and longer with TGFB2 variants (P = 0.06). Conclusions: LDS is associated with high burden of cardiovascular complications at a young age.
Databáze:	MEDLINE
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