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Published in Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw, The Final FRCR, 2020
Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw
Loeys-Dietz syndrome is a rare autosomal dominant connective tissue disorder presenting, amongst other features, with a triad of bifid uvula or cleft palate, hypertelorism and arterial tortuosity and aneurysm formation.
Disorders of bone and connective tissue
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Other disorders to be distinguished include homocystinuria (autosomal recessive), patients with isolated lens dislocation due to spherophakia, who by chance are tall and thin, and neuromuscular disorders giving a ‘marfanoid’ habitus. A separate dominant syndrome of arachnodactyly with contractures but no internal complications (Beals syndrome) has also been described and is due to deficiency of fibrillin 2 (FBN2). The Loeys-Dietz syndrome, in which aneurysms are prominent, results from defects in the allied TGFR-β genes. The pathophysiology as well as the phenotype of the Marfan syndrome and of the Loeys-Dietz syndrome are closely related through activation of the TGF pathway, which is open to therapeutic intervention.
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Differential diagnosis:Loeys-Dietz syndrome; probably the most similar condition, is characterised by generalised arterial tortuosity and aneurysms, cardiac defects and brain abnormalities; developmental delay can be present. Caused by mutations in the genes TGFBR1 and TGFBR2. Marfan syndrome (p. 534). Congenital contractural arachnodactyly, an autosomal dominant disorder caused by mutations in FBN2, does not show intellectual impairment or craniosynostosis. Homocystinuria caused by a deficiency of the enzyme cysthathionine synthetase, presents with a very similar phenotype and mental retardation but also subluxation of the lens and thrombophilia. Lujan–Fryns syndrome is an X-linked disorder also characterised by marfanoid habitus and mental delay but does not show craniosynostosis and joint contractures. Melnick-Needles syndrome (p. 130); frontometaphyseal dysplasia (p. 126).
Conventional aortic root vs valve-sparing root replacement surgery in aortic dilatation syndromes: a comparison of mortality and postoperative complications
Published in Expert Review of Cardiovascular Therapy, 2023
Hashrul N Rashid, Omar Chehab, Harriet Hurrell, Vitaliy Androshchuk, Agata Sularz, Tiffany Patterson, Gianluca Lucchese, Simon Redwood
Syndromic connective tissue disorders are associated with a higher risk of aortic rupture due to an accelerated aortic expansion rate and account for up to 5% of aortic syndromes [2,15]. Marfan syndrome is associated with a mutation of the fibrillin-1 (FBN-1) gene, which codes for fibrillin-1, a glycoprotein component of calcium-binding microfibrils that provides support for connective tissues and is associated with an increased risk of aortic dissection [16]. Vascular Ehlers-Danlos syndrome is due to an abnormality to type III procollagen leading to markedly impaired connective tissue integrity and aggressive medium to large-sized artery expansion [17]. Loey-Dietz syndrome is caused by defects in the TGF-ß receptor gene and is an autosomal dominant condition [18]. Loeys-Dietz syndrome is associated with the highest risk of aortic dissection and affects patients at a young age, particularly in sub-types LDS1 and LDS2.
Total aortic arch replacement using the thoraflex hybrid prosthesis: early- and medium-term results from a Scandinavian center
Published in Scandinavian Cardiovascular Journal, 2021
Maria D. Soknes, Per S. Lingaas, Runar Lundblad, John-Peder Escobar Kvitting
Thirty-four patients (11 females) underwent aortic surgery using the Thoraflex hybrid prosthesis procedure during the time period from December 2014 to December 2019. In 2014, one patient underwent surgery, five patients in 2015, five patients in 2016, six patients in 2017, eight patients in 2018 and nine patients in 2019. The demographic characteristics of the cohort are summarized in Table 1. Fifteen patients had a pre-operative chronic dissection (DeBakey type I (four patients), type II (three patients), type IIIA (four patients) and type IIIB (four patients)). The indication for the remaining patients was aneurysmal disease. Sixteen patients had undergone previous major cardiac or vascular surgery; of these 11 had undergone a previous sternotomy. Two patients in the cohort were treated urgently; the remaining patients underwent elective surgery. One patient had Loeys-Dietz syndrome (unknown at the time of urgent surgery). Mean EuroScore II for the cohort was 6.1% ± 7.0% (range, 1.6%–38.7%).
Familial exudative vitreoretinopathy with TGFBR2 mutation without signs of Loeys-Dietz syndrome
Published in Ophthalmic Genetics, 2021
Toshiaki Asano, Kazuma Oku, Hiroyuki Kondo
Loeys-Dietz Syndrome (LDS) is an autosomal dominant systemic connective tissue disorder first reported by Loeys et al. in 2005 (2). It is characterized by the presence of an aortic aneurysm, aortic dissection, arachnodactyly, and scoliosis. These findings are similar to those of Marfan syndrome, however LDS usually does not have a subluxation of the crystalline lens. Patients with LDS have a characteristic facial appearance of hypertelorism and craniosynostosis associated with bifid uvula and cleft palate (2,3). Genes of the transforming growth factor (TGF) signaling systems, TGFBR1, TGFBR2, SMAD3, TGFB2, and TGFB3, are known to be causative for LDS (4,5). Based on the clinical variations, LDS, including type 1 LDS, is subcategorized by the presence of craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. These findings are not present in type 2 LDS, and some patients have a bifid uvula (6). Type 2 LDS is caused by mutations in the TGFBR2 gene (2,6).