The Marfan syndrome in early childhood: analysis of 15 patients diagnosed at less than 4 years of age

Am J Cardiol. 1983 Aug;52(3):353-8. doi: 10.1016/0002-9149(83)90138-8.

Abstract

The clinical, cardiac and echocardiographic features were reviewed of 15 consecutive infants and children with the Marfan syndrome who presented at less than 4 years of age. The 10 females and 5 males were diagnosed at a mean age of 18 months (range 2 days to 3.5 years); 13 were followed up for a mean of 45 months (range 8 to 109 months) and 2 were lost to follow-up. On first evaluation, 5 patients had mitral regurgitation (MR) and none had aortic regurgitation (AR). Echocardiography showed aortic root dilatation in 9 and mitral valve prolapse (MVP) in 9; only 2 patients had a normal echocardiogram. At follow-up examination, all patients had aortic root dilatation; the rate of increase in aortic root diameter was generally greater than predicted on the basis of body surface area. One patient had AR at age 10 years. All 13 patients had MVP; 9 had progressive mitral valve dysfunction and 4 had mitral valve replacement. One patient died immediately postoperatively. Thus, aortic root dilatation is usually present in early childhood and serves as an objective indicator of the Marfan syndrome. MVP is common and MR, which may require valve replacement, is the leading cause of cardiovascular morbidity in childhood. Echocardiography is useful in the diagnosis and routine management of infants and children in whom the Marfan syndrome is suspected.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Aortic Valve Insufficiency / complications
  • Aortic Valve Insufficiency / diagnosis
  • Child, Preschool
  • Echocardiography
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Marfan Syndrome / complications
  • Marfan Syndrome / diagnosis*
  • Mitral Valve Insufficiency / complications
  • Mitral Valve Insufficiency / diagnosis
  • Mitral Valve Prolapse / complications
  • Mitral Valve Prolapse / diagnosis