Further delineation of cardiac abnormalities in Costello syndrome

Angela E. Lin*, Paul D. Grossfeld, Robert M. Hamilton, Leslie Smoot, Karen W. Gripp, Virginia Proud, Rosanna Weksberg, Patricia Wheeler, Jonathan Picker, Mira Irons, Elaine Zackai, Bradley Marino, Charles I. Scott, Linda Nicholson

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

85 Scopus citations


We review the cardiac abnormalities in 94 patients (27 new, 67 literature) with Costello syndrome, an increasingly recognized syndrome consisting of increased birth weight, postnatal growth retardation, and distinctive facial, skin, and musculoskeletal features (MIM 218040). A cardiac abnormality was found in 59 (63%) patients, with each of three categories occurring in approximately one-third of patients. A cardiovascular malformation (CVM) was noted in 30%, typically pulmonic stenosis (46% of those with a CVM). Cardiac hypertrophy was reported in 34%, which involved the left ventricle in 50% and was usually consistent with classic hypertrophic cardiomyopathy (HCM). A variety of rhythm disturbances were reported in 33%. Most (74%) were atrial tachycardia that was reported as supraventricular, chaotic, multifocal, or ectopic. Of 31 patients with a rhythm abnormality, 22 (68%) had an additional abnormality, i.e., CVM (4), cardiac hypertrophy (12), or both (6). Nine patients had isolated dysrhythmia, five (56%) of whom died. All of the 12 (13%) patients who died had a cardiac abnormality. One patient died of embryonal rhabdomyosarcoma, but in the remainder, a cardiac cause of death could not be disproved. All patients with Costello syndrome need a baseline cardiology evaluation with echocardiography and Holter monitoring. Additional prospective evaluations, even in patients without apparent cardiac abnormalities, would be prudent, although data are insufficient to propose a specific schedule.

Original languageEnglish (US)
Pages (from-to)115-129
Number of pages15
JournalAmerican Journal of Medical Genetics
Issue number2
StatePublished - Aug 22 2002


  • Atrial tachycardia
  • Cardiovascular malformation
  • Chaotic atrial rhythm
  • Conge-nital heart defect
  • Costello syndrome
  • Hypertrophic cardiomyopathy
  • MCA/MR syndrome
  • Multifocal atrial tachycardia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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