Arterial Tortuosity Syndrome: Unraveling a Rare Vascular Disorder.
| Autor: | Ekhator C; Neuro-Oncology, College of Osteopathic Medicine, New York Institute of Technology, Old Westbury, USA., Devi M; Medicine, Ziauddin University, Karachi, PAK., Barker C; Public Health, University of South Florida, Tampa, USA., Safdar S; Internal Medicine, Mayo Hospital, Lahore, PAK., Irfan R; Internal Medicine, Mayo Hospital, Lahore, PAK., Malineni J; Medicine and Surgery, Maharajah's Institute of Medical Sciences, Vizianagaram, IND., Hussain I; Medicine and Surgery, Khyber Medical University, Peshawar, PAK., Bisharat P; Internal Medicine, Khyber Medical University, Peshawar, PAK., Ramadhan A; Medicine, Universal Scientific Education and Research Network (USERN), Yogyakarta, IDN.; Medicine, Faculty of Medicine, Public Health, and Nursing, Gadjah Mada University, Yogyakarta, IDN., Abdelaziz AM; Internal Medicine, Alexandria University Faculty of Medicine, Alexandria, EGY., Bellegarde SB; Pathology and Laboratory Medicine, American University of Antigua, St. John's, ATG., Saddique MN; Medicine and Surgery, Mayo Hospital, Lahore, PAK. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2023 Sep 08; Vol. 15 (9), pp. e44906. Date of Electronic Publication: 2023 Sep 08 (Print Publication: 2023). |
| DOI: | 10.7759/cureus.44906 |
| Abstrakt: | Arterial tortuosity syndrome (ATS) is a rare genetic disorder characterized by abnormal twists and turns of arteries, leading to cardiovascular complications. This syndrome, first reported around 55 years ago, is inherited in an autosomal recessive manner and affects both genders. ATS manifests primarily in childhood, with arterial abnormalities disrupting blood circulation, increasing shear stress, and causing complications, such as atherosclerosis and strokes. This article reviews the genetics, etiology, pathophysiology, clinical presentation, diagnosis, associated conditions, management, and challenges of ATS. The syndrome's genetic cause is linked to mutations in the SLC2A10 gene, affecting collagen and elastin synthesis. Arterial tortuosity, a complex phenomenon, arises from factors such as vessel elongation, anatomic fixation, and vessel diameter. ATS is one of many conditions associated with arterial tortuosity, including Marfan syndrome and Loeys-Dietz syndrome. Recent studies highlight arterial tortuosity's potential as a prognostic indicator for adverse cardiovascular events. Management requires a multidisciplinary approach, and surveillance and prevention play key roles. Despite challenges, advancements in understanding ATS offer hope for targeted therapies and improved patient care. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2023, Ekhator et al.) |
| Databáze: | MEDLINE |
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