Severe neonatal hypertension revealing arterial tortuosity syndrome

Marcellus, Charles de; Baudouin, Véronique; Tănase, A.; Monet, Catherine; Perrin, Laurence; Deschênes, Georges; Hogan, Julien

doi:10.1016/j.kint.2017.09.007

Cited by 5 publications

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“…ATS is an extremely rare disorder [1,4] with only 106 individuals with biallelic pathogenic variants in SLC2A10 identi ed to date [2,[7][8][9]. Four novel pediatric cases are described, contributing to the delineation of the phenotype.…”

Section: Discussionmentioning

confidence: 99%

“…ATS is considered an extremely rare disease (incidence < 1:1,000,000 live births) [1] although no reliable estimates of prevalence exist [4]. To date, only 106 individuals with genetically con rmed ATS have been identi ed [2,[7][8][9]. As its natural history is incompletely studied, no clinical practice guidelines have been published and management mainly relies on expert opinion [1,2].…”

Section: Introductionmentioning

confidence: 99%

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Arterial tortuosity syndrome: phenotypic and cardiovascular features in 4 newly identified patients

Esmel-Vilomara

Valenzuela

Riaza

et al. 2023

Preprint

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Arterial tortuosity syndrome (ATS) is an autosomal recessive connective tissue disease caused by biallelic variants in the SLC2A10gene and characterized by tortuosity and elongation of the aorta and medium-sized arteries. It’s considered an extremely rare disease; only 106 individuals with genetically confirmed ATS have been identified to date. The aim of this study is to contribute to the phenotypic, cardiovascular and genetic characterization of this disease. Four cases of ATS from two families are described, contributing to the clinical delineation of the entity. Two cases with diaphragmatic hernia and a case with complex uropathy, reported in the literature only 11 times, are highlighted. Regarding the vascular involvement, a predominant supra-aortic affectation stands out and only 1 case of focal stenosis is detected (renal artery). All presented severe intracranial tortuosity. To reduce hemodynamic stress on the arterial wall, beta-adrenergic blocking treatment was prescribed. A not previously described mutation (c.899T>G (p.Leu300Trp)) is presented in a proband; it has an allegedly deleterious effect in compound heterozygosis with the pathogenic variant c.417T>A (p.Tyr139Ter). The 3 other patients, siblings born from healthy consanguineous parents, had an homozygous variant in SLC2A10: c.510G>A (p.Trp170Ter).

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Arterial tortuosity syndrome: phenotypic and cardiovascular features in 4 newly identified patients

Esmel-Vilomara

Valenzuela

Riaza

et al. 2023

Preprint

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“…Coarctation of aorta and severe hypertension in infancy have both been reported in neonates with arterial tortuosity ( 13 , 14 ). The pressure gradient across the descending aorta was estimated at 99 mmHg, although the doppler tracing did not show any diastolic tail, indicating “pseudo-coarctation” from kinking.…”

Section: Discussionmentioning

confidence: 99%

Neonatal Arterial Tortuosity and Adult Aortic Aneurysm—Is There a Missing Link?—A Case Report

et al. 2022

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We report a novel case of a full term newborn with non-immune fetal hydrops and arterial tortuosity mimicking a double aortic arch, and cranial fractures in the immediate neonatal period. The infant had no classic features of neonatal arterial tortuosity syndrome or Loeys Dietz syndrome apart from bilateral inguinal hernia. He also had skeletal manifestations in the form of fractures in the neonatal period without any trauma during birth and without clinical evidence of Osteogenesis Imperfecta. A heterozygous missense variant of uncertain significance was detected in MYH11 gene which is increasingly recognized to be belonging to the familial/hereditary thoracic aneurysm and aortic dissection group of disorders. Fetal hydrops as an association with arterial tortuosity has not been reported in the literature. We hypothesize the possible mechanism behind developing fetal hydrops in this case and discuss the genetic and phenotypic heterogeneity of the Familial Thoracic Aortic Aneurysm and Dissection (FTAAD) group of conditions highlighting the unique phenotypic and genotypic presentations. We recommend a high index of suspicion and vigilance in the early detection of such potentially lethal conditions with sequelae also in adulthood.

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“…ATS is an extremely rare disorder [1,4] with only 106 individuals with ATS and biallelic pathogenic variants in SLC2A10 identi ed to date [2,7,8,9]. Four novel pediatric cases are described, contributing to the delineation of the phenotype.…”

Section: Discussionmentioning

confidence: 99%

“…ATS is considered an extremely rare disease (incidence <1:1,000,000 live births) [1] although no reliable estimates of prevalence exist; it is considered to be more frequent than estimated [4]. To date, only 106 individuals with genetically con rmed ATS have been identi ed [2,7,8,9]. Its natural history is still incompletely studied, consequently no clinical practice guidelines have been published and management relies mainly on expert opinion [1,2].…”

Section: Introductionmentioning

confidence: 99%

Arterial tortuosity syndrome: phenotypic features and cardiovascular manifestations in 4 newly identified patients.

Esmel-Vilomara

Valenzuela

Riaza

et al. 2022

Preprint

View full text Add to dashboard Cite

Background and purpose: Arterial tortuosity syndrome (ATS) is an autosomal recessive connective tissue disease caused by biallelic variants in the SLC2A10 gene and characterized by tortuosity and elongation of the aorta and medium-sized arteries, focal stenosis and aneurysm formation. It’s considered an extremely rare disease; only 106 individuals with genetically confirmed ATS have been identified to date. The aim of this study is to contribute to the phenotypic and cardiovascular description of this disease, as well as its genetic characterization. Methods and results: Four cases of ATS from two families are described: 3 siblings born from healthy consanguineous parents with an homozygous variant in SLC2A10: c.510G>A (p.Trp170Ter) and a child with two heterozygous variants: c.417T>A (p.Tyr139Ter), classified as pathogenic, and c.899T>G (p.Leu300Trp), not previously described as pathogenic but with an allegedly deleterious effect in compound heterozygosis. The presented clinical spectrum is wide; two cases with diaphragmatic hernia and a complex uropathy are highlighted. Regarding the vascular involvement, a predominant supra-aortic affectation stands out with less involvement in abdominal aorta, visceral branches and lower extremities. No aneurysms were observed and only 1 case of focal stenosis (renal artery). All presented severe intracranial tortuosity. No case of intracardiac involvement is described. To reduce hemodynamic stress on the arterial wall, beta-adrenergic blocking treatment was prescribed. Conclusions: four novel pediatric cases are described, contributing to the clinical delineation of the entity. A case with complex uropathy, reported in the literature only 11 times, is included. Moreover, a not previously described mutation is presented; with an allegedly deleterious effect in association with another pathogenic variable.

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Severe neonatal hypertension revealing arterial tortuosity syndrome

Cited by 5 publications

References 0 publications

Arterial tortuosity syndrome: phenotypic and cardiovascular features in 4 newly identified patients

Arterial tortuosity syndrome: phenotypic and cardiovascular features in 4 newly identified patients

Neonatal Arterial Tortuosity and Adult Aortic Aneurysm—Is There a Missing Link?—A Case Report

Arterial tortuosity syndrome: phenotypic features and cardiovascular manifestations in 4 newly identified patients.

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