Manuscript
An asymptomatic 10 month old male child born out of a consanguineous
marriage was referred for evaluation of a cardiac murmur. History was
not contributory and physical examination was unremarkable.
Transthoracic echocardiogram (TTE) revealed concentric left (LVH) and
right ventricular hypertrophy (RVH) with preserved LV function, with
dilated root and ascending aorta (supplemental video 1). The aortic
valve was tricuspid with mild aortic regurgitation and no aortic
stenosis. The tortuous arch, neck vessels and loops of serpentine
descending thoracic and abdominal aorta were noted (Supplemental video
2). The LVH prompted a search for coarctation of aorta, which was not
evident on the TTE. The lower limb had bounding pulses and the child was
well perfused with normal blood pressure. A diagnosis of ATS was
considered, and a cardiac computed tomography (CT) was performed. CT
(panel A – D) confirmed the diagnosis and it showed ectactic and
tortuous aorta and its branches. Proximal ascending aorta was dilated
(29 x 31 mm) with tapering at the distal arch with no evident
obstruction. The pulmonary arteries were dilated. Mesenteric and
bilateral renal arteries were tortuous, with no evident obstruction. The
LVH in this child was probably due to a high afterload and the
ventriculo-vascular impedance imposed by both the tapering at the distal
arch and the subsequent tortuous and meandering aorta. (1) Aortic
tortuosity syndrome (ATS) is a rare, autosomal recessive connective
tissue disorder caused by a loss of function mutation in theSLC2A10 gene causing fragmentation of tunica media of great
arteries. (2) It causes tortuous, aneurysmal aorta and pulmonary
arteries, bowel rupture, cutaneous and joint laxity, and intracranial
aneurysms. (3) The child was followed up medically but passed away a
month from evaluation due to unknown causes - which could be postulated
to be a consequence of intra cranial bleed from the ectactic arteries
(4), artery to artery thromboembolism from the sites of aneurysmal
dilatation, or acute vessel or bowel rupture.