TY - JOUR
T1 - Fatal coronary artery disease in an infant with severe mucopolysaccharidosis type I
AU - Van Den Broek, Leonie
AU - Backx, Ad P.C.M.
AU - Coolen, Hans
AU - Wijburg, Frits A.
AU - Wevers, Ron
AU - Morava, Eva
AU - Neeleman, Chris
PY - 2011/5
Y1 - 2011/5
N2 - A previously healthy 10-month-old boy was referred to our hospital because of coarse facial features that were suggestive of lysosomal storage disease. Apart from noisy respiration, there was no medical history. Elevated levels of urinary glycosaminoglycans and complete deficiency of leukocyte α-L-iduronidase indicated severe mucopolysaccharidosis type I. A chest radiograph revealed a markedly enlarged heart, and echocardiography revealed hypertrophic cardiomyopathy. While hematopoietic stem cell transplantation was being planned, progressive cardiac failure developed with a striking hypokinesia of the left-ventricle free wall. In combination with ischemic changes on the electrocardiogram, this was suggestive of coronary artery disease. Results of coronary echo Doppler interrogation were inconclusive, and intravascular ultrasound in this little infant was not feasible. Despite the patient's small size, a successful selective coronary angiography was performed and revealed diffuse narrowing of the left coronary artery with collateral flow from the right coronary artery. Enzymereplacement therapy was started immediately in an attempt to improve myocardial performance. Evaluation after 3 months, however, revealed complete obliteration of the left coronary main stem with diffuse hypokinesia/akinesia of the left ventricle. At the age of 13 months the boy died of terminal cardiac failure. This case report illustrates the importance of considering early development of coronary artery disease in children with severe mucopolysaccharidosis type I and cardiomyopathy.
AB - A previously healthy 10-month-old boy was referred to our hospital because of coarse facial features that were suggestive of lysosomal storage disease. Apart from noisy respiration, there was no medical history. Elevated levels of urinary glycosaminoglycans and complete deficiency of leukocyte α-L-iduronidase indicated severe mucopolysaccharidosis type I. A chest radiograph revealed a markedly enlarged heart, and echocardiography revealed hypertrophic cardiomyopathy. While hematopoietic stem cell transplantation was being planned, progressive cardiac failure developed with a striking hypokinesia of the left-ventricle free wall. In combination with ischemic changes on the electrocardiogram, this was suggestive of coronary artery disease. Results of coronary echo Doppler interrogation were inconclusive, and intravascular ultrasound in this little infant was not feasible. Despite the patient's small size, a successful selective coronary angiography was performed and revealed diffuse narrowing of the left coronary artery with collateral flow from the right coronary artery. Enzymereplacement therapy was started immediately in an attempt to improve myocardial performance. Evaluation after 3 months, however, revealed complete obliteration of the left coronary main stem with diffuse hypokinesia/akinesia of the left ventricle. At the age of 13 months the boy died of terminal cardiac failure. This case report illustrates the importance of considering early development of coronary artery disease in children with severe mucopolysaccharidosis type I and cardiomyopathy.
KW - Bone marrow transplantation
KW - Enzyme-replacement therapy
KW - Heart failure
KW - Mucopolysaccharidosis type I (Hurler syndrome)
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U2 - 10.1542/peds.2009-2047
DO - 10.1542/peds.2009-2047
M3 - Article
C2 - 21464194
AN - SCOPUS:79955501783
SN - 0031-4005
VL - 127
SP - e1343-e1346
JO - Pediatrics
JF - Pediatrics
IS - 5
ER -