Hostname: page-component-cd9895bd7-gxg78 Total loading time: 0 Render date: 2024-12-26T09:44:44.410Z Has data issue: false hasContentIssue false
  • English
  • Français

Hypertrophic cardiomyopathy in Donohue syndrome

Published online by Cambridge University Press:  11 November 2015

Jacqueline U. M. Termote ,
Johannes M. P. J. Breur  and
Monique A. M. J. de Vroede
Jacqueline U. M. Termote*
Affiliation:
Department of Neonatology, Wilhelmina Children’s Hospital, University Medical Centre, Utrecht, The Netherlands
Johannes M. P. J. Breur
Affiliation:
Department of Paediatric Cardiology, Wilhelmina Children’s Hospital, University Medical Centre, Utrecht, The Netherlands
Monique A. M. J. de Vroede
Affiliation:
Department of Paediatric Endocrinology, Wilhelmina Children’s Hospital, University Medical Centre, Utrecht, The Netherlands
*
Correspondence to: J. U. M. Termote, MD, PhD, Department of Neonatology, Wilhelmina Children’s Hospital, University Medical Centre, PO Box 85090, 3508 AB Utrecht, The Netherlands. Tel: +31 88 755 4545; Fax: +31 88 755 5320; E-mail: j.termote@umcutrecht.nl
Get access Rights & Permissions [Opens in a new window]

Abstract

We report the case of a patient with Donohue syndrome who died of heart failure due to obstructive hypertrophic cardiomyopathy. A literature survey revealed that hypertrophic cardiomyopathy was present in 30% of these patients and was often fatal. Therefore, every patient with Donohue syndrome should be screened for hypertrophic cardiomyopathy.

Keywords

Donohue syndromeleprechaunismhypertrophic cardiomyopathy
Type
Brief Reports
Information
Cardiology in the Young , Volume 26 , Issue 4 , April 2016 , pp. 815 - 818
Check for updates
Copyright
© Cambridge University Press 2015 

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1. Pettersen, MD, Du, W, Skeens, ME, Humes, RA. Regression equations for calculation of Z scores of cardiac structures in a large cohort of healthy infants, children and adolescents: an echocardiographic study. J Am Soc Echocardiogr 2008; 21: 922–934.Google Scholar
2. Van der Vorm, ER, van der Zon, GM, Möller, W, Krans, HMJ, Lindhout, D, Maassen, JA. Arg for Gly substitution at position 31 in the insulin receptor, linked to insulin resistance, inhibits receptor processing and transport. J Biol Chem 1992; 267: 66–71.Google Scholar
3. Hawdon, JM. Babies born after diabetes in pregnancy: what are the short- and long-term risks and how can we minimise them? Best Pract Res Clin Obstet Gynaecol 2011; 25: 91–104.Google Scholar
4. DeBosch, BJ, Muslin, AJ. Insulin signaling pathways and cardiac growth. J Mol Cell Cardiol 2008; 44: 855–864.Google Scholar
5. Ogilvy-Stuart, AL, Soos, MA, Hands, SJ, et al. Hypoglycemia and resistance to ketoacidosis in a subject without functional insulin receptors. J Clin Endocrinol Metab 2001; 86: 3319–3326.Google Scholar
6. Geffner, M, Kaplan, S, Bersch, N, et al. Leprechaunism: in vitro insulin action despite insulin resistance. Pediatr Res 1992; 22: 286–291.Google Scholar
7. Rosenberg, AM, Haworth, JC, Degroot, GW, Trevanen, CL, Rechler, MM. A case of Leprechaunism with severe hyperinsulinemia. Am J Dis Child 1980; 134: 170–175.Google Scholar
8. Wells, PNT. Biomedical ultrasonics. Academic Press, London, 1977.Google Scholar
9. Musso, C, Cochran, E, Moran, SA, et al. Clinical course of genetic diseases of the insulin receptor (Type A and Rabson-Mendenhall syndromes): a 30-year prospective. Medicine (Baltimore) 2004; 83: 209–222.Google Scholar