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Rapid progression of mitral valve disease in a child with Noonan syndrome

Published online by Cambridge University Press:  28 September 2020

Pezad N. Doctor*
Affiliation:
Department of Pediatrics, Children’s Hospital of Michigan, Detroit, MI, USA
David K. Lawrence
Affiliation:
Division of Pediatric Cardiology, Department of Pediatrics, Children’s Hospital of Michigan, Detroit, MI, USA
Amrit Misra
Affiliation:
Division of Pediatric Cardiology, Department of Pediatrics, Children’s Hospital of Michigan, Detroit, MI, USA
*
Author for correspondence: Pezad Doctor, MD, Department of Pediatrics, Children’s Hospital of Michigan, 3901 Beaubien Boulevard, Detroit, MI48201, USA. Tel: +1 203 868 6048. E-mail: pezaddactor@gmail.com

Abstract

Noonan syndrome is the second most common genetic syndrome associated with congenital heart disease after Trisomy 21. The two most common cardiac lesions associated with Noonan syndrome are pulmonary stenosis and hypertrophic cardiomyopathy. Although the incidence of mitral valve disease in Noonan syndrome ranges between 2 and 6%, rapid progression of mitral valve dysplasia causing severe mitral valve regurgitation and left atrial dilatation is seldom seen. Most cases of mitral valve disease have been diagnosed either on routine echocardiographic surveillance or when presented with heart failure symptoms. We describe an 18-month-old boy with Noonan syndrome presenting in atrial flutter due to a massively enlarged left atrium caused by severe mitral valve regurgitation which developed and progressed in less than 17 months.

Type
Brief Report
Copyright
© The Author(s), 2020. Published by Cambridge University Press

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References

Mendez, HM, Opitz, JM. Noonan syndrome: a review. Am J Med Genet 1985; 21:493506.CrossRefGoogle ScholarPubMed
Prendiville, TW, Gauvreau, K, Tworog-Dube, E, et al. Cardiovascular disease in Noonan syndrome. Arch Dis Child 2014; 99: 629634.CrossRefGoogle ScholarPubMed
Pierpont, ME, Digilio, MC. Cardiovascular disease in Noonan syndrome. Curr Opin Pediatr 2018; 30: 601608.CrossRefGoogle ScholarPubMed
Marino, B, Gagliardi, MG, Digilio, MC, et al. Noonan syndrome: structural abnormalities of the mitral valve causing subaortic obstruction. Eur J Pediatr 1995; 154: 949952.CrossRefGoogle ScholarPubMed
Sarkozy, A, Dallapiccola, B, Conti, E, et al. Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndrome. J Med Genet 2003; 40: 704708.CrossRefGoogle Scholar
Colquitt, J, Noonan, J. Cardiac findings in Noonan syndrome on long-term follow-up. Congenit Heart Dis 2014; 9: 144150.CrossRefGoogle ScholarPubMed
Sreeram, N, Kitchiner, D, Smith, A. Spectrum of valvar abnormalities in Noonan’s syndrome: a pathologic study. Cardiol Young 1994; 4.CrossRefGoogle Scholar
Ikeda, S, Onoue, N, Simizu, T, et al. A case of Noonan syndrome with mitral regurgitation-rapid dilatation of left ventricle and left atrium without heart failure. J Card Fail 2008; 14: S159.CrossRefGoogle Scholar
Towne, WD, Fabian, JS, Rosen, KM, et al. Systolic prolapse of the mitral valve in Noonan’s syndrome. Am Heart J 1975; 90: 499502.CrossRefGoogle ScholarPubMed
Kadiyala, M, Thangavelu, V, Radhakrishnan, K. Bilateral branch pulmonary artery stenosis and Mitral valve prolapse in a patient with Noonan syndrome: a case report. Heart India 2014; 2: 2225.CrossRefGoogle Scholar
Kang, PJ, Je, HG, Lee, SK. Mitral valve repair in Noonan syndrome: re-do mitral valve repair via mini-thoracotomy. Turk J Thor Cardiovasc Surg 2014; 22: 821825.CrossRefGoogle Scholar