TY - JOUR
T1 - Arterial tortuosity in pediatric Loeys-Dietz syndrome patients
AU - Brunet-Garcia, Laia
AU - Prabaharan, Pirasuja
AU - Bruyndonckx, Luc
AU - Field, Ella
AU - D'Arco, Felice
AU - Capelli, Claudio
AU - Cervi, Elena
N1 - Funding Information: Luc Bruyndonckx received a personal grant from the Mathilde Horlait‐Dapsens Foundation for a clinical fellowship at Great Ormond Street Hospital. Publisher Copyright: © 2023 Wiley Periodicals LLC.
PY - 2023
Y1 - 2023
N2 - Loeys-Dietz syndrome (LDS) is an autosomal connective tissue disorder commonly presenting with hypertelorism, bifid uvula, aortic aneurysms, and arterial tortuosity. The aim of the present study was to investigate differences in tortuosity index (TI) between genotypes of LDS, possible progression over time and its use as an adjunctive prognostic tool alongside aortic dimensions to aid timely surgical planning in pediatric patients. A retrospective observational study of pediatric LDS patients referred to our center (November 2012–February 2021) was conducted. Using magnetic resonance angiography (MRA) with 3D maximum intensity projection volume-rendered angiogram, arterial TI was measured. Twenty three patients had genetically confirmed LDS with at least one head and neck MRA and 19 had no less than one follow-up MRA available. All patients presented arterial tortuosity. Patients with TGFBR2 variants had greater values of TI compared to patients with TGFB2 variants (p = 0.041). For patients who did not undergo surgery (n = 18), z-scores at the level of the sinus of Valsalva showed a significant correlation with vertebral TI (rs = 0.547). There was one death during follow-up. This study demonstrates that patients with LDS and TGFBR2 variants have greater values of TI than patients with TGFB2 variants and that greatest values of TI are associated with increased aortic root z-scores. Furthermore, as TI decreases over time, less frequent neuroimaging follow-up can be considered. Nevertheless, additional studies are needed to better define more accurate risk stratification and long-term surveillance in these patients.
AB - Loeys-Dietz syndrome (LDS) is an autosomal connective tissue disorder commonly presenting with hypertelorism, bifid uvula, aortic aneurysms, and arterial tortuosity. The aim of the present study was to investigate differences in tortuosity index (TI) between genotypes of LDS, possible progression over time and its use as an adjunctive prognostic tool alongside aortic dimensions to aid timely surgical planning in pediatric patients. A retrospective observational study of pediatric LDS patients referred to our center (November 2012–February 2021) was conducted. Using magnetic resonance angiography (MRA) with 3D maximum intensity projection volume-rendered angiogram, arterial TI was measured. Twenty three patients had genetically confirmed LDS with at least one head and neck MRA and 19 had no less than one follow-up MRA available. All patients presented arterial tortuosity. Patients with TGFBR2 variants had greater values of TI compared to patients with TGFB2 variants (p = 0.041). For patients who did not undergo surgery (n = 18), z-scores at the level of the sinus of Valsalva showed a significant correlation with vertebral TI (rs = 0.547). There was one death during follow-up. This study demonstrates that patients with LDS and TGFBR2 variants have greater values of TI than patients with TGFB2 variants and that greatest values of TI are associated with increased aortic root z-scores. Furthermore, as TI decreases over time, less frequent neuroimaging follow-up can be considered. Nevertheless, additional studies are needed to better define more accurate risk stratification and long-term surveillance in these patients.
KW - Loeys-Dietz syndrome
KW - aortic dilatation
KW - arterial tortuosity
KW - computed tomography angiography
KW - magnetic resonance angiography
KW - pediatric population
UR - http://www.scopus.com/inward/record.url?scp=85175717604&partnerID=8YFLogxK
U2 - https://doi.org/10.1002/ajmg.a.63465
DO - https://doi.org/10.1002/ajmg.a.63465
M3 - Article
C2 - 37916856
SN - 1552-4825
JO - American journal of medical genetics. Part A
JF - American journal of medical genetics. Part A
ER -