Loeys Dietz syndrome

Loeys Dietz syndrome

  • Autosomal dominant connective tissue disorder associated with mutations in genes involved in function of transforming growth factor β (TGFBR1, TGFBR2, and possibly TGFB2 and SMAD3 ); it has many features in common with Marfan syndrome 
  • Common features include skeletal manifestations (eg, high-arched palate, malar hypoplasia, micrognathia, retrognathia, pectus deformity, scoliosis, arachnodactyly, joint laxity, mild dolichocephaly), facial dysmorphology (eg, down-slanting palpebral fissures, long face), central nervous system manifestations (eg, dural ectasia), and cardiovascular findings (eg, aortic root aneurysm with dissection) 
  • In contrast to patients with Marfan syndrome, those with Loeys-Dietz syndrome present with several distinguishing features, including absence of ectopia lentis, diffuse vascular tortuosity, aggressive dilation of large and medium arteries, dissection throughout arterial tree, craniosynostosis, cleft palate, bifid uvula, hypertelorism, blue sclerae, developmental delay, hydrocephalus, Chiari type I malformation, thin translucent skin, congenital clubfoot, and congenital heart defects (eg, patent ductus arteriosus, atrial septal defect, bicommissural aortic valve)
  • Importantly, patients with TGFBR1 or TGFBR2 pathologic variants experience vessel rupture at early ages at much smaller vessel dimensions than patients with Marfan syndrome 
  • Definitively diagnose Loeys-Dietz syndrome via genetic testing (sequence analysis of TGFBR1TGFBR2SMAD3, and TGFB2 to identify characteristic genetic pathologic variants)
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