title: Myocardial infarction in two cousins heterozygous for ASN41HIS autosomal dominant variant of Bernard-Soulier syndrome.
abstract: Bernard-Soulier Syndrome is characterized by thrombocytopenia with large platelets and defective aggregation to ristocetin. The bleeding tendency is variable but may be severe. The syndrome is due to genetic defects of the GPIb-V-IX complex and it has been maintained to be protective from thrombotic events. Here we present the first two cases of documented M.I. in two cousins, heterozygous for the Arg41His mutation which is responsible for a dominant form of Bernard-Soulier Syndrome. In one of the two patients an aneurysm of the aorta was also present. The patients had a mild bleeding tendency which was severely aggravated by treatment with antiplatelet drugs. These clinical observations are in contrast with experimental studies which demonstrate that Bernard-Soulier-like strains of mice show a decreased thrombus generation in several experimental settings.
authors.affiliation: Department of Medical and Surgical Sciences, Padua University, Via Ospedale 105, 35128, Padua, Italy. antonio.girolami@unipd.it
authors.forename: Antonio
authors.initials: A
authors.lastname: Girolami
authors.forename: Silvia
authors.initials: S
authors.lastname: Vettore
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Vianello
authors.forename: Giulia
authors.initials: G
authors.lastname: Berti de Marinis
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Fabris
mesh_terms: D000368:Aged; D019943:Amino Acid Substitution; D001014:Aortic Aneurysm / Q000150:complications / Q000235:genetics*; D001606:Bernard-Soulier Syndrome / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009203:Myocardial Infarction / Q000209:etiology / Q000235:genetics*; D019038:Platelet Glycoprotein GPIb-IX Complex / Q000235:genetics*; D013927:Thrombosis / Q000209:etiology / Q000235:genetics
chemical_list: D019038:Platelet Glycoprotein GPIb-IX Complex