Congenital heart defects in Sotos sequence

Am J Med Genet. 1987 Mar;26(3):569-76. doi: 10.1002/ajmg.1320260310.


Of 10 patients with typical Sotos sequence, 5 had various congenital heart defects. They included 2 patients with secundum atrial septal defect, and one patient each with patent ductus arteriosus with mitral valve regurgitation, tricuspid atresia plus pulmonary atresia, and ventricular septal defect. Increases of head circumference and weight gain were less accelerated in the patients with congenital heart defects than in those without heart defects, while growth in length was comparable between the 2 groups. In view of these findings, it is suggested that the rate of congenital heart defects in patients with Sotos sequence is much higher than that reported in the literature.

MeSH terms

  • Anthropometry
  • Child, Preschool
  • Female
  • Gigantism / complications*
  • Gigantism / genetics
  • Head / abnormalities
  • Heart Defects, Congenital / complications*
  • Humans
  • Infant
  • Karyotyping
  • Male