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

Abstract

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.

Keywords: aortic aneurysm; arterial tortuosity; hydrops fetalis; neonatal; pediatric.

Figure 1

Frontal chest radiograph (A) shows the tip of the umbilical arterial catheter (UAC) at the level of T8 vertebral body with curved configuration of its terminal portion (black arrowheads). Several rib and left clavicular fractures (black arrows) are also noted in the bony thoracic cage. Chest CT Angiography coronal multi-planar reconstruction image at the level of thoraco-abdominal aorta (B) and 3D surface shaded display image of the thoraco-abdominal aorta (C) showing the arterial tortuosity with distal end of the UAC location in descending thoracic aorta.

Figure 2

Chest CT Angiography 3D surface shaded display images: Anterior view of the thoraco-abdominal aorta (A); Posterior view of the combined thoraco-abdominal aorta and pulmonary arteries (B); Antero-superior view of the subtracted pulmonary arterial circulation and right atrium (C); Superior view of the subtracted pulmonary venous circulation and left atrium (D). Oblique coronal gray-scale (E); and color Doppler (F,G) echocardiography images of the aortic arch and its major branches. The left-sided aortic arch has an unusual configuration with the dilated innominate artery forming a hairpin turn before its bifurcation into right subclavian and common carotid arteries (arrowheads in A,B). The left common carotid and subclavian arteries arise from the hypoplastic mid arch (arrows in A,B). The thoraco-abdominal aorta is tortuous. Included abdominal aorta shows dilated and tortuous branches of the coeliac axis. The main pulmonary artery is short with early bifurcation with long tubular configuration and parallel proximal course of the right and left main pulmonary arteries (arrowheads in C). Normal morphology of bilateral pulmonary veins draining into the left atrium (D). Some of these findings are also demonstrated on echocardiography images (arrows in E–G).