Sudden death in a 4-year-old boy: A near-complete occlusion of the coronary artery caused by an aggressive low-density lipoprotein receptor mutation (W556R) in homozygous familial hypercholesterolemia

Journal of Pediatrics

Volumn 158, Issue 1, 2011, Pages 167-

  Widhalm, Kurt ^a   Binder, Christoph Benedikt ^a   Kreissl, Alexandra ^a   Aldover Macasaet, Elsie ^a   Fritsch, Maria ^a   Kroisboeck, Susanne ^b   Geiger, Harald ^c  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b Medical Center of the Austrian Armed Forces   (Austria)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

ATORVASTATIN; EZETIMIBE; LOW DENSITY LIPOPROTEIN RECEPTOR;

CASE REPORT; CHILD; FAMILIAL HYPERCHOLESTEROLEMIA; GENE MUTATION; HEART INFARCTION; HUMAN; LABORATORY TEST; MALE; NOTE; PRESCHOOL CHILD; PRIORITY JOURNAL; SUDDEN DEATH;

EID: 78650030824     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2010.06.027     Document Type: Article

References (4)

1. G. Gutierrez, A. Schneider, J. Jobs, H. Schmidt, A. Korte, and M.P. Mann Homozygous familial hypercholesterolemia: a novel point mutation (W556R) in a Turkish patient Hum Mutat 16 2000 374
2. A.S. Wierzbicki, and A. Viljoen Hyperlipidaemia in paediatric patients: the role of lipid-lowering therapy in clinical practice Drug Saf 33 2010 115-15
3. B. Lefort, C. Giraud, J.P. Saulnier, L. Bott, C. Gambert, and P. Sosner Treatment of homozygous familial hypercholesterolemia with LDL apheresis in a 4-year-old child Arch Pediatr 16 2009 1554 1558
4. H. Mabuchi, J. Koizumi, M. Shimizu, and R. Takeda Development of coronary heart disease in familial hypercholesterolemia Circulation 79 1989 225 232