title: Myocardial infarction in a 36-year-old man with combined ABCA1 and APOA-1 deficiency.
abstract: In this report, we present a patient who suffered from a myocardial infarction at an extremely young age. The only remarkable finding in the risk factor workup was a near undetectable high-density lipoprotein (HDL)-cholesterol plasma level (0.09 mmol/L). Genetic analysis of key genes involved in HDL metabolism resulted in the discovery of 2 very rare mutations in the ABCA1 and APOA1 genes. We discuss the effects of these mutations on HDL metabolism and reverse cholesterol transport and interpret these findings in relation to the extensive atherosclerosis at a very young age in this patient.
authors.affiliation: Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Julian C
authors.initials: JC
authors.lastname: van Capelleveen
authors.affiliation: Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Ruud S
authors.initials: RS
authors.lastname: Kootte
authors.affiliation: Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: G Kees
authors.initials: GK
authors.lastname: Hovingh
authors.affiliation: Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: a.e.bochem@amc.uva.nl.
authors.forename: Andrea E
authors.initials: AE
authors.lastname: Bochem
mesh_terms: D064286:ATP Binding Cassette Transporter 1 / Q000172:deficiency*; D000328:Adult; D016632:Apolipoprotein A-I / Q000172:deficiency*; D006801:Humans; D008075:Lipoproteins, HDL / Q000378:metabolism*; D008297:Male; D009154:Mutation; D009203:Myocardial Infarction / Q000235:genetics* / Q000378:metabolism*
chemical_list: C577836:ABCA1 protein, human; C505693:APOA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D016632:Apolipoprotein A-I; D008075:Lipoproteins, HDL
keywords: ABCA1; APOA1; Genetics; HDL cholesterol; Reverse cholesterol transport