BACKGROUND: Studies of cardiomyopathy in children with Noonan syndrome (NS) have been primarily small case series or cross-sectional studies with small or no comparison groups. METHODS: We used the Pediatric Cardiomyopathy Registry database to compare the survival experience of children with NS and hypertrophic cardiomyopathy (HCM) with children with idiopathic or familial HCM and to identify clinical and echocardiographic predictors of clinical outcomes. RESULTS: Longitudinal data in 74 children with NS and HCM and 792 children with idiopathic or familial isolated HCM were compared. Children with NS were diagnosed with HCM before 6 months old more often (51%) than children with HCM (28%) and were more likely to present with congestive heart failure (CHF) (24% vs 9%). The NS cohort had lower crude survival than the group with other HCM (P = .03), but survival did not differ after adjustment for CHF and age at diagnosis. Within the NS cohort (1-year survival 78%), a diagnosis of HCM before age 6 months with CHF resulted in 31% 1-year survival. Lower height-for-age z score (hazard ratio 0.26, P = .005) in place of CHF and lower left ventricular fractional shortening z score (hazard ratio 0.79, P = .04) also independently predicted mortality. CONCLUSIONS: Patients with NS with HCM have a worse risk profile at presentation compared with other children with HCM, resulting in significant early mortality (22% at 1 year). Decreased height-for-age and lower, although still supranormal, left ventricular fractional shortening z score are independent predictors of mortality in patients with NS with HCM. Such patients should have an aggressive therapeutic approach including potential listing for cardiac transplantation.
BACKGROUND: Studies of cardiomyopathy in children with Noonan syndrome (NS) have been primarily small case series or cross-sectional studies with small or no comparison groups. METHODS: We used the Pediatric Cardiomyopathy Registry database to compare the survival experience of children with NS and hypertrophic cardiomyopathy (HCM) with children with idiopathic or familial HCM and to identify clinical and echocardiographic predictors of clinical outcomes. RESULTS: Longitudinal data in 74 children with NS and HCM and 792 children with idiopathic or familial isolated HCM were compared. Children with NS were diagnosed with HCM before 6 months old more often (51%) than children with HCM (28%) and were more likely to present with congestive heart failure (CHF) (24% vs 9%). The NS cohort had lower crude survival than the group with other HCM (P = .03), but survival did not differ after adjustment for CHF and age at diagnosis. Within the NS cohort (1-year survival 78%), a diagnosis of HCM before age 6 months with CHF resulted in 31% 1-year survival. Lower height-for-age z score (hazard ratio 0.26, P = .005) in place of CHF and lower left ventricular fractional shortening z score (hazard ratio 0.79, P = .04) also independently predicted mortality. CONCLUSIONS:Patients with NS with HCM have a worse risk profile at presentation compared with other children with HCM, resulting in significant early mortality (22% at 1 year). Decreased height-for-age and lower, although still supranormal, left ventricular fractional shortening z score are independent predictors of mortality in patients with NS with HCM. Such patients should have an aggressive therapeutic approach including potential listing for cardiac transplantation.
Authors: Steven E Lipshultz; E John Orav; James D Wilkinson; Jeffrey A Towbin; Jane E Messere; April M Lowe; Lynn A Sleeper; Gerald F Cox; Daphne T Hsu; Charles E Canter; Juanita A Hunter; Steven D Colan Journal: Lancet Date: 2013-09-03 Impact factor: 79.321
Authors: Teresa M Lee; Daphne T Hsu; Paul Kantor; Jeffrey A Towbin; Stephanie M Ware; Steven D Colan; Wendy K Chung; John L Jefferies; Joseph W Rossano; Chesney D Castleberry; Linda J Addonizio; Ashwin K Lal; Jacqueline M Lamour; Erin M Miller; Philip T Thrush; Jason D Czachor; Hiedy Razoky; Ashley Hill; Steven E Lipshultz Journal: Circ Res Date: 2017-09-15 Impact factor: 17.367
Authors: Gregor Andelfinger; Christopher Marquis; Marie-Josée Raboisson; Yves Théoret; Stephan Waldmüller; Gesa Wiegand; Bruce D Gelb; Martin Zenker; Marie-Ange Delrue; Michael Hofbeck Journal: J Am Coll Cardiol Date: 2019-05-07 Impact factor: 24.094
Authors: Fabrice Jaffré; Clint L Miller; Anne Schänzer; Todd Evans; Amy E Roberts; Andreas Hahn; Maria I Kontaridis Journal: Circulation Date: 2019-06-05 Impact factor: 29.690