Survival implications: Hypertrophic cardiomyopathy in noonan syndrome

Edward J. Hickey, Rohit Mehta, Maryam Elmi, Kentaro Asoh, Brian W. McCrindle, William G. Williams, Cedric Manlhiot, Lee Benson

Research output: Contribution to journalArticle

Abstract

Objectives. To understand relationships and survival implications between structural heart disease and hypertrophic cardiomyopathy in Noonan syndrome (Noonan syndrome-HCM), we reviewed the clinical course of 138 children with Noonan syndrome diagnosed with cardiovascular abnormalities and compared survival with the 30 children with Noonan syndrome-HCM with 120 contemporaneous children with nonsyndromic HCM. Methods. Study cohorts represent consecutive cases diagnosed at our institution 1966 through 2006. Outcomes were modeled using multiphase parametric techniques followed by multivariable regression with bagging. Results. Cardiac abnormalities in Noonan syndrome: Cardiac abnormalities in the 138 Noonan syndrome children included pulmonary valve dysplasia (52%), hypertrophic cardiomyopathy (22%), atrial septal defect (20%), ventricular septal defect (10%), mitral valve dysplasia (6%), coarctation (3%), and Fallot's tetralogy (2%). Need for surgery was high but not different from children with structural defects coexisting with HCM. Overall, late survival in children with Noonan syndrome and cardiac defects was good (91 ± 3% at 15 years), although significantly worse for those with Noonan syndrome-HCM (P < .01). Noonan syndrome-HCM vs. nonsyndromic HCM: In the 30 children with Noonan syndrome-HCM, structural cardiac malformations coexisted in 18 (57%). The incidence of structural cardiac malformations in nonsyndromic HCM was instead 3/120 (2.5%, P < .001). Risk-adjusted late survival was significantly worse for Noonan syndrome-HCM than for nonsyndromic HCM (P= .02). Conclusions. Noonan syndrome-HCM frequently coexists with structural cardiac malformations, whereas nonsyndromic HCM does not; their natural histories may therefore be different. Late survival is significantly worse for Noonan syndrome-HCM than nonsyndromic HCM.

Original languageEnglish (US)
Pages (from-to)41-47
Number of pages7
JournalCongenital Heart Disease
Volume6
Issue number1
DOIs
StatePublished - Jan 1 2011
Externally publishedYes

Fingerprint

Noonan Syndrome
Hypertrophic Cardiomyopathy
Cardiovascular Abnormalities
Pulmonary Valve
Tetralogy of Fallot
Atrial Heart Septal Defects
Ventricular Heart Septal Defects
Natural History
Mitral Valve

Keywords

  • Congenital Heart Disease
  • Hypertrophic Cardiomyopathy
  • Noonan Syndrome
  • Survival

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Surgery
  • Radiology Nuclear Medicine and imaging
  • Cardiology and Cardiovascular Medicine

Cite this

Hickey, E. J., Mehta, R., Elmi, M., Asoh, K., McCrindle, B. W., Williams, W. G., ... Benson, L. (2011). Survival implications: Hypertrophic cardiomyopathy in noonan syndrome. Congenital Heart Disease, 6(1), 41-47. https://doi.org/10.1111/j.1747-0803.2010.00465.x

Survival implications : Hypertrophic cardiomyopathy in noonan syndrome. / Hickey, Edward J.; Mehta, Rohit; Elmi, Maryam; Asoh, Kentaro; McCrindle, Brian W.; Williams, William G.; Manlhiot, Cedric; Benson, Lee.

In: Congenital Heart Disease, Vol. 6, No. 1, 01.01.2011, p. 41-47.

Research output: Contribution to journalArticle

Hickey, EJ, Mehta, R, Elmi, M, Asoh, K, McCrindle, BW, Williams, WG, Manlhiot, C & Benson, L 2011, 'Survival implications: Hypertrophic cardiomyopathy in noonan syndrome', Congenital Heart Disease, vol. 6, no. 1, pp. 41-47. https://doi.org/10.1111/j.1747-0803.2010.00465.x
Hickey EJ, Mehta R, Elmi M, Asoh K, McCrindle BW, Williams WG et al. Survival implications: Hypertrophic cardiomyopathy in noonan syndrome. Congenital Heart Disease. 2011 Jan 1;6(1):41-47. https://doi.org/10.1111/j.1747-0803.2010.00465.x
Hickey, Edward J. ; Mehta, Rohit ; Elmi, Maryam ; Asoh, Kentaro ; McCrindle, Brian W. ; Williams, William G. ; Manlhiot, Cedric ; Benson, Lee. / Survival implications : Hypertrophic cardiomyopathy in noonan syndrome. In: Congenital Heart Disease. 2011 ; Vol. 6, No. 1. pp. 41-47.
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abstract = "Objectives. To understand relationships and survival implications between structural heart disease and hypertrophic cardiomyopathy in Noonan syndrome (Noonan syndrome-HCM), we reviewed the clinical course of 138 children with Noonan syndrome diagnosed with cardiovascular abnormalities and compared survival with the 30 children with Noonan syndrome-HCM with 120 contemporaneous children with nonsyndromic HCM. Methods. Study cohorts represent consecutive cases diagnosed at our institution 1966 through 2006. Outcomes were modeled using multiphase parametric techniques followed by multivariable regression with bagging. Results. Cardiac abnormalities in Noonan syndrome: Cardiac abnormalities in the 138 Noonan syndrome children included pulmonary valve dysplasia (52{\%}), hypertrophic cardiomyopathy (22{\%}), atrial septal defect (20{\%}), ventricular septal defect (10{\%}), mitral valve dysplasia (6{\%}), coarctation (3{\%}), and Fallot's tetralogy (2{\%}). Need for surgery was high but not different from children with structural defects coexisting with HCM. Overall, late survival in children with Noonan syndrome and cardiac defects was good (91 ± 3{\%} at 15 years), although significantly worse for those with Noonan syndrome-HCM (P < .01). Noonan syndrome-HCM vs. nonsyndromic HCM: In the 30 children with Noonan syndrome-HCM, structural cardiac malformations coexisted in 18 (57{\%}). The incidence of structural cardiac malformations in nonsyndromic HCM was instead 3/120 (2.5{\%}, P < .001). Risk-adjusted late survival was significantly worse for Noonan syndrome-HCM than for nonsyndromic HCM (P= .02). Conclusions. Noonan syndrome-HCM frequently coexists with structural cardiac malformations, whereas nonsyndromic HCM does not; their natural histories may therefore be different. Late survival is significantly worse for Noonan syndrome-HCM than nonsyndromic HCM.",
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AB - Objectives. To understand relationships and survival implications between structural heart disease and hypertrophic cardiomyopathy in Noonan syndrome (Noonan syndrome-HCM), we reviewed the clinical course of 138 children with Noonan syndrome diagnosed with cardiovascular abnormalities and compared survival with the 30 children with Noonan syndrome-HCM with 120 contemporaneous children with nonsyndromic HCM. Methods. Study cohorts represent consecutive cases diagnosed at our institution 1966 through 2006. Outcomes were modeled using multiphase parametric techniques followed by multivariable regression with bagging. Results. Cardiac abnormalities in Noonan syndrome: Cardiac abnormalities in the 138 Noonan syndrome children included pulmonary valve dysplasia (52%), hypertrophic cardiomyopathy (22%), atrial septal defect (20%), ventricular septal defect (10%), mitral valve dysplasia (6%), coarctation (3%), and Fallot's tetralogy (2%). Need for surgery was high but not different from children with structural defects coexisting with HCM. Overall, late survival in children with Noonan syndrome and cardiac defects was good (91 ± 3% at 15 years), although significantly worse for those with Noonan syndrome-HCM (P < .01). Noonan syndrome-HCM vs. nonsyndromic HCM: In the 30 children with Noonan syndrome-HCM, structural cardiac malformations coexisted in 18 (57%). The incidence of structural cardiac malformations in nonsyndromic HCM was instead 3/120 (2.5%, P < .001). Risk-adjusted late survival was significantly worse for Noonan syndrome-HCM than for nonsyndromic HCM (P= .02). Conclusions. Noonan syndrome-HCM frequently coexists with structural cardiac malformations, whereas nonsyndromic HCM does not; their natural histories may therefore be different. Late survival is significantly worse for Noonan syndrome-HCM than nonsyndromic HCM.

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