When the Descending Aorta Is Indeed "Ascending"
Cardiac magnetic resonance angiography demonstrates a tortuous course of the aorta in a patient with aortic tortuosity syndrome. (A) Coronal image showing the anterior aspect of the heart and great vessels. The ascending aorta exhibits a near a transverse course from right to left. (B) Posterior aspect of the heart and great vessels where the tortuous transverse arch and descending aorta can be clearly observed. (C) Sagittal view of the heart and great vessels. (D) Isolated aorta showing its tortuous course as part of this syndrome.
A 3-month-old female patient underwent echocardiography because of a heart murmur. The patient was normotensive with strong pulses in all extremities. Cardiac magnetic resonance imaging was pursued due to inability to visualize the aortic arch. Three-dimensional reconstruction revealed arterial tortuosity syndrome.
Arterial tortuosity syndrome is a rare congenital connective tissue disorder characterized by elongation and generalized tortuosity of the major arteries, including the aorta. It is associated with hyperextensible skin and hypermobile joints. Although arterial tortuosity has been primarily described in Loeys-Dietz syndrome due to TGFBR1 and TGFBR2 mutations, recent studies suggest association with many other genetic conditions, including Marfan syndrome (FBN1) and Turner syndrome with significant aortopathy. Arterial tortuosity syndrome exhibits an autosomal recessive inheritance, and the involved gene is located at the 20q13 chromosome. Mutations in SLC2A10 lead to decrease transcription of decorin, the inhibitor of the TGFB pathway with the lack of proper extracellular matrix formation. In a recent review of 71 cases, consanguinity was present in 46%.1 Severe vascular complications include early and significant aortic root aneurysm, intracranial bleeding in the neonatal period, gastric perforation, and ischemic stroke. Pulmonary artery stenosis has also been associated with arterial tortuosity syndrome. Increased tortuosity, measured by the vertebral artery tortuosity index on magnetic resonance imaging, is associated with early adverse cardiovascular outcomes and Marfan and Loeys-Dietz syndrome and is a better indicator than aortic dimension alone to predict aortic dissection.2 In a recent study of 40 families with arterial tortuosity syndrome, 48% of cases were mainly affected in the vessels of the head, neck, and pulmonary arteries.3 This patient continues to be stable with no echocardiographic evidence of aortic obstruction.
- Mehrabi E, Khan K, Malik SA. Arterial tortuosity syndrome. BMJ Case Rep 2016;2016:bcr2016217029.
- Morris SA. Arterial tortuosity in genetic arteriopathies. Curr Opin Cardiol 2015;30:587-93.
- Beyens A, Albuisson J, Boel A, et al. Arterial tortuosity syndrome: 40 new families and literature review. Genet Med 2018;Jan 11:[Epub ahead of print].
Date: July 30, 2018
Authors: Lazaro Hernandez, MD
Source: ACC Media File
Keywords: Diagnostic Imaging, Pediatrics, Aortic Arch Syndromes, Heart Defects, Congenital