Arterial tortuosity syndrome: Phenotypic features and cardiovascular manifestations in 4 newly identified patients.
Eur J Med Genet
; 66(9): 104823, 2023 Sep.
Article
em En
| MEDLINE
| ID: mdl-37619836
ABSTRACT
Arterial tortuosity syndrome (ATS) is an autosomal recessive connective tissue disease caused by biallelic variants in the SLC2A10 gene (NG_016284.1) and characterised by tortuosity and elongation of the aorta and medium-sized arteries. It is considered an extremely rare disease; only 106 individuals with genetically confirmed ATS have been identified to date. Four cases of ATS from two families are described, contributing to the clinical delineation of this condition. A patient with microcephaly and a complex uropathy and two cases with diaphragmatic hernia are noticed. Regarding the vascular involvement, a predominant supra-aortic involvement stands out and only 1 patient with significant arterial stenoses was described. All presented severe tortuosity of the intracranial arteries. To reduce hemodynamic stress on the arterial wall, beta-adrenergic blocking treatment was prescribed. A not previously described variant (NM_030777.4c.899T>G (p.Leu300Trp)) was detected in a proband; it has an allegedly deleterious effect in compound heterozygous state with the pathogenic variant c.417T>A (p.Tyr139Ter). The other 3 patients, siblings born to healthy consanguineous parents, had a variant in homozygous state c.510G>A (p.Trp170Ter).
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01-internacional
Base de dados:
MEDLINE
Assunto principal:
Artérias
/
Dermatopatias Genéticas
Limite:
Humans
Idioma:
En
Revista:
Eur J Med Genet
Ano de publicação:
2023
Tipo de documento:
Article