Myocardial infarction resulting from coronary artery dissection in an adolescent with Ehlers-Danlos syndrome type IV due to a type III collagen mutation.

摘要: Ehlers-Danlos syndrome encompasses a group of inherited disorders connective tissue, some which are characterised by abnormalities collagen metabolism. The chromosomal location, identified genes and biochemical defects, inheritance pattern, clinical features for the various known subtypes outlined. Prenatal diagnosis is possible types IV, VI, VIIA1, VIIA2. An unusual presentation type IV in 16 year old boy with an anterior myocardial infarction resulting from dissection left descending coronary artery reported here. A was made subsequently confirmed reduced production, impaired secretion, abnormally slow electrophoretic migration III collagen, indicating underlying mutation COL3A1 gene. This patient represents first case symptomatic dissection.