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Arterial Tortuosity Syndrome: Unraveling a Rare Vascular Disorder

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 prim...

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Autores principales: Ekhator, Chukwuyem, Devi, Monika, Barker, Chad, Safdar, Shamayel, Irfan, Rabbia, Malineni, Jahnavi, Hussain, Iqbal, Bisharat, Pakeezah, Ramadhan, Afif, Abdelaziz, Ali M, Bellegarde, Sophia B, Saddique, Muhammad Nabeel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10491927/
https://www.ncbi.nlm.nih.gov/pubmed/37692180
http://dx.doi.org/10.7759/cureus.44906
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author Ekhator, Chukwuyem
Devi, Monika
Barker, Chad
Safdar, Shamayel
Irfan, Rabbia
Malineni, Jahnavi
Hussain, Iqbal
Bisharat, Pakeezah
Ramadhan, Afif
Abdelaziz, Ali M
Bellegarde, Sophia B
Saddique, Muhammad Nabeel
author_facet Ekhator, Chukwuyem
Devi, Monika
Barker, Chad
Safdar, Shamayel
Irfan, Rabbia
Malineni, Jahnavi
Hussain, Iqbal
Bisharat, Pakeezah
Ramadhan, Afif
Abdelaziz, Ali M
Bellegarde, Sophia B
Saddique, Muhammad Nabeel
author_sort Ekhator, Chukwuyem
collection PubMed
description 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.
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spelling pubmed-104919272023-09-10 Arterial Tortuosity Syndrome: Unraveling a Rare Vascular Disorder Ekhator, Chukwuyem Devi, Monika Barker, Chad Safdar, Shamayel Irfan, Rabbia Malineni, Jahnavi Hussain, Iqbal Bisharat, Pakeezah Ramadhan, Afif Abdelaziz, Ali M Bellegarde, Sophia B Saddique, Muhammad Nabeel Cureus Cardiac/Thoracic/Vascular Surgery 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. Cureus 2023-09-08 /pmc/articles/PMC10491927/ /pubmed/37692180 http://dx.doi.org/10.7759/cureus.44906 Text en Copyright © 2023, Ekhator et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Cardiac/Thoracic/Vascular Surgery
Ekhator, Chukwuyem
Devi, Monika
Barker, Chad
Safdar, Shamayel
Irfan, Rabbia
Malineni, Jahnavi
Hussain, Iqbal
Bisharat, Pakeezah
Ramadhan, Afif
Abdelaziz, Ali M
Bellegarde, Sophia B
Saddique, Muhammad Nabeel
Arterial Tortuosity Syndrome: Unraveling a Rare Vascular Disorder
title Arterial Tortuosity Syndrome: Unraveling a Rare Vascular Disorder
title_full Arterial Tortuosity Syndrome: Unraveling a Rare Vascular Disorder
title_fullStr Arterial Tortuosity Syndrome: Unraveling a Rare Vascular Disorder
title_full_unstemmed Arterial Tortuosity Syndrome: Unraveling a Rare Vascular Disorder
title_short Arterial Tortuosity Syndrome: Unraveling a Rare Vascular Disorder
title_sort arterial tortuosity syndrome: unraveling a rare vascular disorder
topic Cardiac/Thoracic/Vascular Surgery
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10491927/
https://www.ncbi.nlm.nih.gov/pubmed/37692180
http://dx.doi.org/10.7759/cureus.44906
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