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

Abstract

Abstract. Nishiyama Y, Nejima J, Watanabe A, Kotani E, Sakai N, Hatamochi A, Shinkai H, Kiuchi K, Tamura K, Shimada T, Takano T, Katayama Y (Nippon Medical School, Tokyo, and Chiba University School of Medicine, Chiba, Japan). Ehlers±Danlos syndrome type IV with a unique point mutation in COL3 A1 and familial phenotype of myocardial infarction without organic coronary stenosis (Case Report). J Intern Med 2001; 249: 103±108.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.

Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene

“…PEPIN et al [4] suggested that there was no apparent relationship between the type of complication and the location of mutations. However, it has also been suggested that the nature of the mutation can relate to phenotype [16][17][18][19][20][21][22][23]. Mutations at the very 39 end of the gene generally produce a severe form of the disease, with arterial rupture and markedly reduced life expectancy, and mutations located in the middle part or at the 59 end produce more variable phenotypes and milder variants [1,17,18].…”

Genetic Aspects of the Vascular Type of Ehlers-Danlos Syndrome (vEDS, EDSIV) in Japan

“…The COL3A1 mutation identification method we described previously 4,5 was further modified to amplify 1 COL3A1 cDNA fragment. Total cellular RNA and genomic DNA were extracted from cultured dermal fibroblasts and complementary DNA was synthesized by priming with random hexamers as described previously.…”

Multiple spontaneous coronary artery ruptures and cardiac tamponade in vascular Ehlers-Danlos syndrome

“…As is often the case with catastrophic disorders, SCAR might be underreported because an acute bleeding in the pericardium is often lethal and thus likely to be recognized. In addition, pre-or postoperative CAG failed to show local coronary pathology in most cases [10].…”