Abstract 16575: Arterial Tortuosity is Present in Multiple Genetic Conditions Associated With Aortopathy, a Study From the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC)
Background: Arterial tortuosity is emerging as an imaging marker of adverse events in aortopathy, but quantification has focused on patients with Marfan and Loeys-Dietz syndromes. Our objective was to characterize vertebral artery tortuosity among a variety of aortopathy phenotypes and genotypes.
Methods: We performed a retrospective analysis of patients ≤50 years old with at least one of the following: aortic dilation or dissection, bicuspid aortic valve (BAV), or a genotype associated with aortopathy. Patients included were either enrolled in GenTAC or were cared for at our institution, and had undergone a magnetic resonance or computed tomography angiogram that included the vertebral arteries. The disease-causing gene mutation was available for a subset of the patients. The vertebral artery tortuosity index (VTI) was utilized to quantify tortuosity, and was compared among phenotypes and genotypes. Increased tortuosity was defined as ≥2SD above the mean VTI of previously reported controls undergoing evaluation to exclude arrhythmogenic right ventricular dysplasia (mean 4.5±2.5, cutoff=10.5).
Results: We included 456 patients, of median age 29 years (IQR 15-40 years), and 58% male. The figure shows VTI by phenotype and genotype. VTI was higher in all phenotypic groups than controls (p ≤0.01 for all). All genotypes (for which n>1) had increased VTI compared to controls (p≤0.01 for all). Patients with TGFBR2 mutations had significantly greater VTI (median 59, IQR 20-85) than those with FBN1 mutations (median 25, IQR 13-51, p=0.01); there was no difference in VTI between TGFBR1 (median 19, IQR 12-64) and FBN1 mutations (p=0.79). There was no overall correlation between age and VTI; when evaluated by diagnosis, there was a weak correlation in MFS (Spearman's rho=0.213, p=0.01).
Conclusions: Increased arterial tortuosity as measured by VTI is present in many phenotypes and genotypes associated with aortopathy, and is not limited to those with mutations in TGFBR1/2.
Author Disclosures: S.A. Morris: None. K. Kancherla: None. S. Oda: None. F.M. Asch: None. S. Sami: None. W.A. Payne: None. N.A. Dodd: None. K.A. Eagle: None. C. Pedroza: None. R.E. Pyeritz: None. W. Ravekes: None. M.J. Roman: None. K.W. Holmes: None. J.E. Tyson: None. R. Lacro: None. S.A. LeMaire: None. R. Krishnamurthy: None. D.M. Milewicz: None.
- © 2015 by American Heart Association, Inc.