A case of vascular Ehlers-Danlos Syndrome with a cardiomyopathy and multi-system involvement.
Cardiovasc Pathol
; 35: 48-51, 2018.
Article
em En
| MEDLINE
| ID: mdl-29778910
ABSTRACT
Ehlers-Danlos Syndrome comprises a heterogeneous group of heritable connective tissue disorders resulting from various gene mutations. We present an unusual case of vascular Ehlers-Danlos Syndrome with distinctive physical characteristics and a cardiomyopathy with features suggesting isolated left ventricular non-compaction. The cardiac features represent the first report of a cardiomyopathy associated with a mutation in the COL3A1 gene. This case also illustrates the multi-system nature of Ehlers-Danlos Syndrome and the complexity of managing patients with the vascular subtype.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article