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

We report on a 43-year-old male patient with Ehlers-Danlos syndrome (EDS) t ype IV with acute myocardial infarction (MI) without organic coronary steno sis. The disease was complicated with pneumothorax, subcutaneous and medias tinal 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 bg 86%. Mutation an alysis revealed a point mutation in the COL3A1 gene that substituted glycin e for aspartate at amino acid position 877. This mutation had not been repo rted as pathogenic for EDS type IV. These findings suggest close linkage be tween the mutation and the phenotype with familial MI.