Successful Surgical Pulmonary Artery Reconstruction in Arterial Tortuosity Syndrome

Al-Khaldi, Abdulaziz; Alharbi, Abdulmohsen; Tamimi, Omar; Mohammed, Yasser

doi:10.1016/j.athoracsur.2009.02.020

Cited by 11 publications

(3 citation statements)

References 7 publications

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“…With early detection, some patients may benefit from surgical intervention, that is, aortic root replacement for aortic aneurysms and/or pulmonary artery reconstruction, which have yielded good clinical and hemodynamic outcomes in the short term. 7,8 However, long-term outcomes of the altered natural history remain unknown and require further evaluation.…”

Section: Discussionmentioning

confidence: 99%

A Severe Form of Arterial Tortuosity Syndrome Presenting With Significant Airway Obstruction in an Infant

Dodge-Khatami

Simpson

Dodge‐Khatami

2019

World J Pediatr Congenit Heart Surg

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We describe a severe form of arterial tortuosity syndrome in a newborn, in which the tortuous course of the aorta masqueraded as a pulmonary artery sling on fetal echocardiogram. The newborn presented with respiratory distress after birth. The clinical course was complicated by extrinsic airway obstruction requiring cardiopulmonary resuscitation. Timely diagnostic work-up in patients with arterial tortuosity syndrome is necessary to plan eventual intervention, and hopefully to prevent complications related to the abnormal vasculature.

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Section: Discussionmentioning

confidence: 99%

A Severe Form of Arterial Tortuosity Syndrome Presenting With Significant Airway Obstruction in an Infant

Dodge-Khatami

Simpson

Dodge‐Khatami

2019

World J Pediatr Congenit Heart Surg

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“…The same hybrid surgical procedure was adopted also for Patient 4, unfortunately the patient died during weaning from extracorporeal circulation as a result of secondary decompensation leading to impaired cardiac contractile function. However, to our knowledge [ 11 , 12 ] and based on a literature review [ 13 - 15 ], complications have not been observed during cardiovascular surgery in ATS patients, and the risk of fatal events should be similar to the general population. Together, these data suggest that in ATS, an early diagnosis is life saving, leading to proper management and follow-up.…”

Section: Discussionmentioning

confidence: 99%

Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review

et al. 2014

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BackgroundArterial Tortuosity Syndrome (ATS) is a very rare autosomal recessive connective tissue disorder (CTD) characterized by tortuosity and elongation of the large- and medium-sized arteries and a propensity for aneurysm formation and vascular dissection. During infancy, children frequently present the involvement of the pulmonary arteries (elongation, tortuosity, stenosis) with dyspnea and cyanosis. Other CTD signs of ATS are dysmorphisms, abdominal hernias, joint hypermobility, skeletal abnormalities, and keratoconus. ATS is typically described as a severe disease with high rate of mortality due to major cardiovascular malformations. ATS is caused by mutations in the SLC2A10 gene, which encodes the facilitative glucose transporter 10 (GLUT10). Approximately 100 ATS patients have been described, and 21 causal mutations have been identified in the SLC2A10 gene.Case presentationWe describe the clinical findings and molecular characterization of three new ATS families, which provide insight into the clinical phenotype of the disorder; furthermore, we expand the allelic repertoire of SLC2A10 by identifying two novel mutations. We also review the ATS patients characterized by our group and compare their clinical findings with previous data.ConclusionsOur data confirm that the cardiovascular prognosis in ATS is less severe than previously reported and that the first years of life are the most critical for possible life-threatening events. Molecular diagnosis is mandatory to distinguish ATS from other CTDs and to define targeted clinical follow-up and timely cardiovascular surgical or interventional treatment, when needed.Electronic supplementary materialThe online version of this article (doi:10.1186/s12881-014-0122-5) contains supplementary material, which is available to authorized users.

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“…Pulmonary artery stenosis can be corrected by percutaneous surgical or hybrid approaches (80,92). Systemic stenosis-if focal-may require excision and end-to-end anastomoses (2,3,12,22,28,35,46,49,80,92). Currently, the experience is limited and is based on expert opinion and on personal experience of the thoracovascular surgeon (14).…”

Section: Patient Managementmentioning

confidence: 99%

Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder?

Boel

Veszelyi

Németh

et al. 2021

Antioxidants & Redox Signaling

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Significance: Cardiovascular disorders are the most important cause of morbidity and mortality in the Western world. Monogenic developmental disorders of the heart and vessels are highly valuable to study the physiological and pathological processes in cardiovascular system homeostasis. The arterial tortuosity syndrome (ATS) is a rare, autosomal recessive connective tissue disorder showing lengthening, tortuosity, and stenosis of the large arteries, with a propensity for aneurysm formation. In histopathology, it associates with fragmentation and disorganization of elastic fibers in several tissues, including the arterial wall. ATS is caused by pathogenic variants in SLC2A10 encoding the facilitative glucose transporter (GLUT)10. Critical Issues: Although several hypotheses have been forwarded, the molecular mechanisms linking disrupted GLUT10 activity with arterial malformations are largely unknown. Recent Advances: The vascular and systemic manifestations and natural history of ATS patients have been largely delineated. GLUT10 was identified as an intracellular transporter of dehydroascorbic acid, which contributes to collagen and elastin cross-linking in the endoplasmic reticulum, redox homeostasis in the mitochondria, and global and gene-specific methylation/hydroxymethylation affecting epigenetic regulation in the nucleus. We revise here the current knowledge on ATS and the role of GLUT10 within the compartmentalization of ascorbate in physiological and diseased states. Future Directions: Centralization of clinical, treatment, and outcome data will enable better management for ATS patients. Establishment of representative animal disease models could facilitate the study of pathomechanisms underlying ATS. This might be relevant for other forms of vascular dysplasia, such as isolated aneurysm formation, hypertensive vasculopathy, and neovascularization. Antioxid. Redox Signal. 00, 000-000.

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Successful Surgical Pulmonary Artery Reconstruction in Arterial Tortuosity Syndrome

Cited by 11 publications

References 7 publications

A Severe Form of Arterial Tortuosity Syndrome Presenting With Significant Airway Obstruction in an Infant

A Severe Form of Arterial Tortuosity Syndrome Presenting With Significant Airway Obstruction in an Infant

Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review

Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder?

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