A 16-year-old boy with type IV Ehlers-Danlos syndrome due to a COL3A1 mutation presented with an anterior myocardial infarction resulting from left anterior descending coronary artery dissection.
Case Report (n=1)
This represents the first reported case of type IV Ehlers-Danlos syndrome presenting with symptomatic coronary artery dissection leading to myocardial infarction in an adolescent.
Ehlers-Danlos syndrome encompasses a group of inherited disorders of connective tissue, some of which are characterised by abnormalities of collagen metabolism. The chromosomal location, identified genes and biochemical defects, inheritance pattern, and clinical features for the various known subtypes are outlined. Prenatal diagnosis is possible for types IV, VI, VIIA1, and VIIA2. An unusual presentation of type IV Ehlers-Danlos syndrome in a 16 year old boy with an anterior myocardial infarction resulting from dissection of the left anterior descending coronary artery is reported here. A clinical diagnosis of type IV Ehlers-Danlos syndrome was made subsequently and confirmed by the reduced production, impaired secretion, and abnormally slow electrophoretic migration of type III collagen, indicating an underlying mutation in the COL3A1 gene. This patient represents the first case of type IV Ehlers-Danlos syndrome with symptomatic coronary artery dissection.
Adès et al. (Tue,) conducted a case report in Ehlers-Danlos syndrome type IV (n=1). Type III collagen mutation (COL3A1 gene) was evaluated on Anterior myocardial infarction resulting from dissection of the left anterior descending coronary artery. A 16-year-old boy with type IV Ehlers-Danlos syndrome due to a COL3A1 mutation presented with an anterior myocardial infarction resulting from left anterior descending coronary artery dissection.