Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis.

Abstract:

:We report on a 43-year-old male patient with Ehlers-Danlos syndrome (EDS) type IV with acute myocardial infarction (MI) without organic coronary stenosis. The disease was complicated with pneumothorax, subcutaneous and mediastinal emphysema, and splenic artery rupture. Three of the patient's family members suffered sudden cardiac death or MI. A diagnosis of EDS type IV was confirmed by decreased production of type III collagen by 86%. Mutation analysis revealed a point mutation in the COL3A1 gene that substituted glycine for aspartate at amino acid position 877. This mutation had not been reported as pathogenic for EDS type IV. These findings suggest close linkage between the mutation and the phenotype with familial MI.

journal_name

J Intern Med

authors

Nishiyama Y,Nejima J,Watanabe A,Kotani E,Sakai N,Hatamochi A,Shinkai H,Kiuchi K,Tamura K,Shimada T,Takano T,Katayama Y

doi

10.1046/j.1365-2796.2001.00761.x

subject

Has Abstract

pub_date

2001-01-01 00:00:00

pages

103-8

issue

1

eissn

0954-6820

issn

1365-2796

pii

jim761

journal_volume

249

pub_type

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