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PMID:7546986

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Citation

Adès, LC, Waltham, RD, Chiodo, AA and Bateman, JF (1995) Myocardial infarction resulting from coronary artery dissection in an adolescent with Ehlers-Danlos syndrome type IV due to a type III collagen mutation. Br Heart J 74:112-6

Abstract

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.

Links

PubMed PMC483983

Keywords

Adolescent; Adult; Aneurysm, Dissecting/complications; Collagen/chemistry; Collagen/genetics; Collagen/metabolism; Coronary Disease/complications; Ehlers-Danlos Syndrome/complications; Ehlers-Danlos Syndrome/genetics; Electrophoresis, Polyacrylamide Gel; Humans; Male; Mutation; Myocardial Infarction/etiology

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:CO3A1

involved_in

GO:0007507: heart development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:CO3A1

involved_in

GO:0030199: collagen fibril organization

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

See also

References

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