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

Dodge-Khatami, Jannika; Simpson, Scott A.; Dodge‐Khatami, Ali

doi:10.1177/2150135119829009

Cited by 1 publication

(1 citation statement)

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“…The first case confirmed ATS and although genetic tests were not performed in the second case, ATS was highly suspected based on sonographic findings, facial features and the two cases from the same parents. Timely diagnostic work-up in patients with ATS is necessary to plan eventual intervention, and hopefully to prevent complications related to the abnormal vasculature [ 20 ]. Regular cardiovascular follow up with echocardiography, and MRI-angiography or CT scan with 3D reconstructions from head to pelvis starting at birth or at the time of diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Two fetuses in one family of arterial tortuosity syndrome: prenatal ultrasound diagnosis

Liang

Wen

2021

BMC Pregnancy Childbirth

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Background Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disorder chiefly characterized by elongated and tortuosity of the large and medium sized arteries and anomalies of the vascular elastic fibers. Here we reported cases of brother about ATS from the same family on the prenatal ultrasound diagnosis. Reports of this case are rare in antenatally and we draw the vessel simulated diagram to display visually. Case presentation Prenatal ultrasound scanning at 29 weeks of gestation of the first fetus showed obvious tortuous and elongated of the aortic arch, ductus arteriosus, left and right pulmonary arteries, carotid and subclavian arteries. Three months after delivery, Contrast-enhanced computed tomography images (CTA) were performed to clearly display vascular abnormalities consistent with prenatal diagnosis of ultrasound. Whole exome sequencing (WES) was performed eight months after birth, two heterozygous variants of SLC2A10 gene was detected in newborn and their father and mother, respectively. Prenatal ultrasound scan at 22 weeks of gestation of the second fetus showed similar cardiovascular imaging. After birth the siblings have facial characteristic features gradually as aging. No surgical intervention was performed in the siblings follow up 19 months. Conclusions The key points of prenatal ultrasound diagnosis of ATS are the elongation and tortuosity of the large and medium sized arteries. Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions.

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Section: Discussionmentioning

confidence: 99%