Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: A study from the Pediatric Cardiomyopathy Registry

James D. Wilkinson, April M. Lowe, Bonnie A. Salbert, Lynn A. Sleeper, Steven D. Colan, Gerald F. Cox, Jeffrey A. Towbin, David M. Connuck, Jane E. Messere, Steven E. Lipshultz

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)442-448
Number of pages7
JournalAmerican Heart Journal
Volume164
Issue number3
DOIs
StatePublished - Sep 1 2012

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Noonan Syndrome
Hypertrophic Cardiomyopathy
Cardiomyopathies
Registries
Pediatrics
Heart Failure
Familial Hypertrophic Cardiomyopathy
Survival
Mortality
Heart Transplantation
Cross-Sectional Studies
Databases

All Science Journal Classification (ASJC) codes

  • Cardiology and Cardiovascular Medicine

Cite this

Wilkinson, J. D., Lowe, A. M., Salbert, B. A., Sleeper, L. A., Colan, S. D., Cox, G. F., ... Lipshultz, S. E. (2012). Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: A study from the Pediatric Cardiomyopathy Registry. American Heart Journal, 164(3), 442-448. https://doi.org/10.1016/j.ahj.2012.04.018

Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy : A study from the Pediatric Cardiomyopathy Registry. / Wilkinson, James D.; Lowe, April M.; Salbert, Bonnie A.; Sleeper, Lynn A.; Colan, Steven D.; Cox, Gerald F.; Towbin, Jeffrey A.; Connuck, David M.; Messere, Jane E.; Lipshultz, Steven E.

In: American Heart Journal, Vol. 164, No. 3, 01.09.2012, p. 442-448.

Research output: Contribution to journalArticle

Wilkinson, JD, Lowe, AM, Salbert, BA, Sleeper, LA, Colan, SD, Cox, GF, Towbin, JA, Connuck, DM, Messere, JE & Lipshultz, SE 2012, 'Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: A study from the Pediatric Cardiomyopathy Registry', American Heart Journal, vol. 164, no. 3, pp. 442-448. https://doi.org/10.1016/j.ahj.2012.04.018
Wilkinson, James D. ; Lowe, April M. ; Salbert, Bonnie A. ; Sleeper, Lynn A. ; Colan, Steven D. ; Cox, Gerald F. ; Towbin, Jeffrey A. ; Connuck, David M. ; Messere, Jane E. ; Lipshultz, Steven E. / Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy : A study from the Pediatric Cardiomyopathy Registry. In: American Heart Journal. 2012 ; Vol. 164, No. 3. pp. 442-448.
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abstract = "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.",
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T1 - Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy

T2 - A study from the Pediatric Cardiomyopathy Registry

AU - Wilkinson, James D.

AU - Lowe, April M.

AU - Salbert, Bonnie A.

AU - Sleeper, Lynn A.

AU - Colan, Steven D.

AU - Cox, Gerald F.

AU - Towbin, Jeffrey A.

AU - Connuck, David M.

AU - Messere, Jane E.

AU - Lipshultz, Steven E.

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Y1 - 2012/9/1

N2 - 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.

AB - 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.

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