Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation

Braz J Cardiovasc Surg. 2021 Oct 17;36(5):700-702. doi: 10.21470/1678-9741-2020-0592.


A 32-month-old girl with patent ductus arteriosus, false tendon of left ventricle, mild pulmonary hypertension, and chronic cardiac insufficiency (cardiac function level I-II) was misdiagnosed with Marfan Syndrome and there was no improvement in her physical growth after operation for this disease. The preterm baby was finally diagnosed with Myhre Syndrome by clinical phenotypes and mutation of SMAD4 gene.

Keywords: Diagnostic Errors; Growth Disorders; Growth mental deficiency syndrome of Myhre; Hypertension; Marfan Syndrome; Pulmonary.

MeSH terms

  • Child, Preschool
  • Cryptorchidism
  • Diagnostic Errors
  • Facies
  • Female
  • Growth Disorders
  • Hand Deformities, Congenital*
  • Humans
  • Intellectual Disability
  • Marfan Syndrome* / diagnosis
  • Smad4 Protein


  • Smad4 Protein

Supplementary concepts

  • Growth mental deficiency syndrome of Myhre