Myocardial infarction in two cousins heterozygous for ASN41HIS autosomal dominant variant of Bernard-Soulier syndrome.

Journal of Thrombosis and Thrombolysis
Antonio GirolamiFabrizio Fabris

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.

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Citations

May 30, 2013·Hematology/oncology Clinics of North America·Reyhan Diz-Kücükkaya, José A López
Oct 31, 2012·Journal of Thrombosis and Haemostasis : JTH·A GirolamiA M Lombardi
May 17, 2013·Seminars in Hematology·Axel Matzdorff, Juerg-Hans Beer
Aug 27, 2014·Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis·Antonio GirolamiElisabetta Cosi
Aug 11, 2020·Thrombosis and Haemostasis·Thorsten KesslerPhilipp von Hundelshausen

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