Abstract.
Severely affected children with congenital disorder of glycosylation type Ia (CDG-Ia; MIM 212065) may develop hypertrophic cardiomyopathy. In this report we describe the near-death of a 10-month-old girl with CDG-Ia due to acute left-ventricular outlet obstruction caused by hypertrophic cardiomyopathy and acute dehydration. The girl had multi-organ failure and signs of severe myocardial damage mimicking myocardial infarction. Conclusion: hypertrophic cardiomyopathy contributes to the high mortality of young children with congenital disorder of glycosylation type Ia. Even if cardiomyopathy in this disease is non-obstructive, acute fluid-loss might cause left ventricular outflow tract obstruction and life-threatening myocardial ischaemia. Patients with congenital disorder of glycosylation type Ia are at risk for cardiac complications and should be monitored regularly by echocardiography.
Similar content being viewed by others
Author information
Authors and Affiliations
Additional information
Electronic Publication
Rights and permissions
About this article
Cite this article
Marquardt, T., Hülskamp, G., Gehrmann, J. et al. Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia. Eur J Pediatr 161, 524–527 (2002). https://doi.org/10.1007/s00431-002-1029-2
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00431-002-1029-2