Loeys-Dietz syndrome: a Marfan-like syndrome associated with aggressive vasculopathy.
Loeys-Dietz syndrome is a recently-characterised genetic disorder with an autosomal-dominant inheritance due to mutations in the transforming growth factor beta-receptor Type 1 or Type 2 genes. We present a Chinese female neonate with genetically-confirmed Loeys-Dietz syndrome, cleft palate, hypertelorism, and an early dilatation of the aortic root and ascending aorta. This syndrome is associated with an aggressive arteriopathy, with an increased risk of dissection and rupture. Early diagnosis, close monitoring and early surgery may prolong the life in affected individuals. Losartan is an emerging therapy that may help slow down the rate of arterial dilatation.
Choo
J T L
JT
Cardiology Service, Department of Paediatric Subspecialties, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore. chooseml@yahoo.com.sg
Tan
T H
TH
Lai
A H M
AH
Wong
K Y
KY
D000889:Anti-Arrhythmia Agents / Q000627:therapeutic use; D001014:Aortic Aneurysm / Q000175:diagnosis / Q000188:drug therapy; D004452:Echocardiography / Q000379:methods; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D055947:Loeys-Dietz Syndrome / Q000175:diagnosis* / Q000188:drug therapy; D019808:Losartan / Q000627:therapeutic use; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000188:drug therapy; D012306:Risk; D013997:Time Factors; D016212:Transforming Growth Factor beta / Q000378:metabolism
D000889:Anti-Arrhythmia Agents; D016212:Transforming Growth Factor beta; D019808:Losartan