Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia.
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.


CONCLUSIONS
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.
Marquardt
Thorsten
T
Klinik und Poliklinik für Kinderheilkunde, Albert-Schweitzer-Strasse 33, 48149 Münster, Germany. marquat@uni-muenster.de
Hülskamp
Georg
G
Gehrmann
Josef
J
Debus
Volker
V
Harms
Erik
E
Kehl
Hans Gerd
HG
D002312:Cardiomyopathy, Hypertrophic / Q000150:complications* / Q000151:congenital* / Q000201:enzymology; D018981:Congenital Disorders of Glycosylation / Q000150:complications / Q000201:enzymology; D004562:Electrocardiography; D005260:Female; D006031:Glycosylation; D006330:Heart Defects, Congenital / Q000201:enzymology / Q000209:etiology; D006801:Humans; D007223:Infant; D017202:Myocardial Ischemia / Q000201:enzymology / Q000209:etiology*; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency; D012720:Severity of Illness Index; D014694:Ventricular Outflow Obstruction / Q000201:enzymology / Q000209:etiology
D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase