Arterial Tortuosity Syndrome in a Neonate

Kim, Kyung Min; Hur, Sun; Yoon, Ji Hong; Lee, Eun Jung; Lee, Jae Young

doi:10.5385/nm.2018.25.1.49

Cited by 1 publication

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“…Most cases of ATS reported in the neonatal period present with characteristic facial features which include an elongated face, down-slanting palpebral fissures, a beaked nose, a high-arched palate, and micrognathia. Other accompanying manifestations of connective tissue include hyperextensible skin, hernias, and skeletal abnormalities such as arachnodactyly, joint hypermobility, and cutis laxa have also been reported ( 2 – 4 ). In this case report, we describe a term newborn presenting with non-immune fetal hydrops diagnosed with arterial tortuosity, focusing on the possible mechanism of developing hydrops, recognition, management, and recommend a high degree of suspicion in its early detection.…”

Section: Introductionmentioning

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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Section: Introductionmentioning

confidence: 99%