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Original article
Heterogeneity of aortic disease severity in patients with Loeys–Dietz syndrome
  1. Gisela Teixidó-Tura1,
  2. Romy Franken1,2,
  3. Valentina Galuppo1,
  4. Laura Gutiérrez García-Moreno1,
  5. Mar Borregan3,
  6. Barbara J M Mulder2,4,
  7. David García-Dorado1,
  8. Artur Evangelista1
  1. 1Servei de Cardiologia, Unitat de Marfan, Hospital Universitari, Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain
  2. 2Interuniversity Cardiology Institute of the Netherlands, Utrecht, The Netherlands
  3. 3Servei de Genètica, Hospital Universitari, Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain
  4. 4Department of Cardiology, Academic Medical Centre, Amsterdam, The Netherlands
  1. Correspondence to Dr Gisela Teixidó, Hospital Universitari Vall d'Hebron, Passeig Vall d'Hebron 119-129, Barcelona 08035, Spain; gteixido{at}vhebron.net

Abstract

Objective This study aimed to determine aortic disease severity in patients with Loeys–Dietz syndrome (LDS).

Methods Thirty-three patients with LDS diagnosed and followed up at our unit were included. After reviewing all family trees, 25 deceased family members with clear clinical suspicion of having had LDS were also included. Clinical presentation, aortic dilation rate by echocardiography and age at aortic surgery, dissection or death were determined.

Results Median aortic diameter at diagnosis was 36 mm, 43% of the patients aged >40 years had a z-score <2. Median aortic root dilation rate was 0.67 mm/year (maximum 2.0 mm/year) over a median follow-up of 2 years (IQR 1.0–4.0). In the global cohort, 31/58 patients reached a clinical endpoint; 19% death, median age: 52 years; 14% dissection, median age: 36 years; 21% aortic surgery, median age: 53 years. As expected, probands had a higher z-score (2.9 vs 1.5, p=0.019) and more often required aortic surgery (33.4% vs 18.2%, p=0.035) compared with family members. TGFBR2 carriers had a higher z-score compared with TGFBR1 carriers (3.2 vs 1.5, p=0.034) and younger age at aortic surgery (HR 4.9, 95% CI 1.5 to 123, p=0.026). Craniofacial severity index was inversely correlated with age at first event (r=−0.765, p=0.045).

Conclusions Although paediatric patients were not properly represented in our cohort, our patients with LDS presented a significant heterogeneity in the severity of aortic disease with large intrafamilial and interfamilial variability, aortic root aneurysm were less frequent and aortic complications less premature than previously depicted. Furthermore, aortic dilation rate was similar to that reported in Marfan syndrome and aortic root diameters appear to be larger in TGFBR2 carriers.

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