Title of article :
Valve-sparing aortic root replacement in Loeys-Dietz syndrome and a novel mutation in TGFBR2
Author/Authors :
Kasar, Taner Department of Pediatric Cardiology - İstanbul Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital - İstanbul - Turkey , Gezdirici, Alper Department of Medical Genetics - Kanuni Sultan Süleyman Training and Research Hospital - İstanbul - Turkey , Ayyıldız, Pelin Department of Pediatric Cardiology - İstanbul Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital - İstanbul - Turkey , Haydin, Sertaç Department of Cardiovascular Surgery - İstanbul Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital - İstanbul - Turkey , Güzeltaş, Alper Department of Pediatric Cardiology - İstanbul Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital - İstanbul - Turkey
Abstract :
Loeys-Dietz syndrome (LDS) is a rare, multisystemic, autosomal
dominant connective tissue disease coursing with a progressive
aortic root aneurysm. Despite the lack of definitive criteria, LDS is
characterized by the triad of arterial tortuosity/aneurysm, hypertelorism, and bifid uvula or cleft palate, and shows genetic heterogeneity. In previous studies, mutations of the TGFBR1, TGFBR2,
SMAD3, and TGFB2 genes have been reported in LDS. Mutations in
these genes cause dysregulation of the TGFB pathway (1, 2)
Keywords :
Valve-sparing aortic root replacement , Loeys-Dietz syndrome , novel mutation , TGFBR2
Journal title :
The Anatolian Journal of Cardiology: Andolu Kardiyoloji Dergisi
