UNLABELLED: Loeys-Dietz syndrome (LDS) is a heritable connective tissue disease in which the activity of the transforming growth factor (TGF) beta signalling pathway is disrupted. The clinical features of LDS represent a clinical continuum that includes LDS type 1, with cutaneous, vascular, skeletal and craniofacial findings, and LDS type 2, with cutaneous, vascular and skeletal findings. We describe five Asian patients with genetically confirmed LDS with mutations in either the TGFBR1 or TGFBR2 gene. Their clinical features were similar to those reported in Caucasian patients. Two patients have novel mutations in TGFBR2. Transcatheter occlusion of patent ductus arteriosus (PDA) was safe and successful in three patients. Treatment with Losartan for aortic root dilatation was well tolerated in our patients, but the outcome is mixed. Among the three patients with follow-up data, aortic root dilatation has improved in two patients but continues to progress in the third patient despite treatment. CONCLUSION: We describe two novel mutations in TGFBR2 leading to LDS; PDA is common in our patients and can be safely occluded via transcatheter procedure.
UNLABELLED: Loeys-Dietz syndrome (LDS) is a heritable connective tissue disease in which the activity of the transforming growth factor (TGF) beta signalling pathway is disrupted. The clinical features of LDS represent a clinical continuum that includes LDS type 1, with cutaneous, vascular, skeletal and craniofacial findings, and LDS type 2, with cutaneous, vascular and skeletal findings. We describe five Asian patients with genetically confirmed LDS with mutations in either the TGFBR1 or TGFBR2 gene. Their clinical features were similar to those reported in Caucasian patients. Two patients have novel mutations in TGFBR2. Transcatheter occlusion of patent ductus arteriosus (PDA) was safe and successful in three patients. Treatment with Losartan for aortic root dilatation was well tolerated in our patients, but the outcome is mixed. Among the three patients with follow-up data, aortic root dilatation has improved in two patients but continues to progress in the third patient despite treatment. CONCLUSION: We describe two novel mutations in TGFBR2 leading to LDS; PDA is common in our patients and can be safely occluded via transcatheter procedure.
Authors: Ingrid M B H van de Laar; Denise van der Linde; Edwin H G Oei; Pieter K Bos; Johannes H Bessems; Sita M Bierma-Zeinstra; Belle L van Meer; Gerard Pals; Rogier A Oldenburg; Jos A Bekkers; Adriaan Moelker; Bianca M de Graaf; Gabor Matyas; Ingrid M E Frohn-Mulder; Janneke Timmermans; Yvonne Hilhorst-Hofstee; Jan M Cobben; Hennie T Bruggenwirth; Lut van Laer; Bart Loeys; Julie De Backer; Paul J Coucke; Harry C Dietz; Patrick J Willems; Ben A Oostra; Anne De Paepe; Jolien W Roos-Hesselink; Aida M Bertoli-Avella; Marja W Wessels Journal: J Med Genet Date: 2012-01 Impact factor: 6.318
Authors: Bart L Loeys; Junji Chen; Enid R Neptune; Daniel P Judge; Megan Podowski; Tammy Holm; Jennifer Meyers; Carmen C Leitch; Nicholas Katsanis; Neda Sharifi; F Lauren Xu; Loretha A Myers; Philip J Spevak; Duke E Cameron; Julie De Backer; Jan Hellemans; Yan Chen; Elaine C Davis; Catherine L Webb; Wolfram Kress; Paul Coucke; Daniel B Rifkin; Anne M De Paepe; Harry C Dietz Journal: Nat Genet Date: 2005-01-30 Impact factor: 38.330
Authors: Jason A Williams; Bart L Loeys; Lois U Nwakanma; Harry C Dietz; Philip J Spevak; Nishant D Patel; Katrien François; Julie DeBacker; Vincent L Gott; Luca A Vricella; Duke E Cameron Journal: Ann Thorac Surg Date: 2007-02 Impact factor: 4.330
Authors: Bart L Loeys; Ulrike Schwarze; Tammy Holm; Bert L Callewaert; George H Thomas; Hariyadarshi Pannu; Julie F De Backer; Gretchen L Oswald; Sofie Symoens; Sylvie Manouvrier; Amy E Roberts; Francesca Faravelli; M Alba Greco; Reed E Pyeritz; Dianna M Milewicz; Paul J Coucke; Duke E Cameron; Alan C Braverman; Peter H Byers; Anne M De Paepe; Harry C Dietz Journal: N Engl J Med Date: 2006-08-24 Impact factor: 91.245