Pediatria pre prax 3/2013

Loyes-Dietz syndrome presenting with severe aortic insufficiency – case report

Severe aortic insufficiency (AI) in childhood is very rare cause of heart failure. Mostly is associated with connective tissue disorders as Marfan syndrome (MFS) or recently described Loyes-Dietz syndrome (LDS) (1). Authors present a case report of 9 years old girl with severe AI caused by aneurysm of aortic root. Typical findings associated with LDS are wide spread aneurysms of aorta, hypertelorism, cleft palate or split uvula (bifid uvula) and generalized arterial tortuosity. LDS is an autosomal dominant genetic disorder of the connective tissue; caused by mutation in the genes encoding the transforming growth factor beta receptor 1 and 2 (TGFBR1 and TGFRB2). Afflicted patients demonstrate different involvement of cardiovascular, musculoskeletal and central nervous system. From prognostic point of view the most consequential is widespread involvement of arterial system, when in addition to ascending aorta other parts of aorta and their branches might be also afflicted. Life threatening dissection and ruptures can occur earlier and at less dilated aneurysms than in MFS, requiring more aggressive diagnostic and therapeutic management with timely surgical intervention. Incidence of LDS is less frequent than serious congenital heart defects but due to its catastrophic potential even in early childhood as well as possible preventive intervention the importance of early diagnosis and treatment should be emphasized.

Keywords: Loeys-Dietz syndrome, aneurysms of aorta, aortic root replacement.