title: Further delineation of cardiac abnormalities in Costello syndrome.
abstract: 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.
authors.affiliation: Teratology Unit, Pediatric Service, Massachusetts General Hospital, Boston, Massachusetts, USA. ALIN@Partners.org
authors.forename: Angela E
authors.initials: AE
authors.lastname: Lin
authors.forename: Paul D
authors.initials: PD
authors.lastname: Grossfeld
authors.forename: Robert M
authors.initials: RM
authors.lastname: Hamilton
authors.forename: Leslie
authors.initials: L
authors.lastname: Smoot
authors.forename: Karen W
authors.initials: KW
authors.lastname: Gripp
authors.forename: Virginia
authors.initials: V
authors.lastname: Proud
authors.forename: Rosanna
authors.initials: R
authors.lastname: Weksberg
authors.forename: Patricia
authors.initials: P
authors.lastname: Wheeler
authors.forename: Jonathan
authors.initials: J
authors.lastname: Picker
authors.forename: Mira
authors.initials: M
authors.lastname: Irons
authors.forename: Elaine
authors.initials: E
authors.lastname: Zackai
authors.forename: Bradley
authors.initials: B
authors.lastname: Marino
authors.forename: Charles I
authors.initials: CI
authors.lastname: Scott
authors.forename: Linda
authors.initials: L
authors.lastname: Nicholson
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006337:Heart Murmurs / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis; D008297:Male; D013577:Syndrome