Actual management of patients with familial ascending aortic aneurysms and type-A aortic dissections.
Thorac Cardiovasc Surg
; 55(1): 19-23, 2007 Feb.
Article
en En
| MEDLINE
| ID: mdl-17285469
BACKGROUND: There are few families with the diagnosis of ascending aortic aneurysm and acute type-A aortic dissection inherited as an autosomal-dominant disorder in the absence of a known genetic syndrome. METHODS: We investigated a family with 26 members in whom ascending aortic aneurysms and acute type-A aortic dissections occurred over three generations. Examinations were performed to identify family members at specific risk. RESULTS: Six members presented with acute type-A aortic dissections and three relatives had ascending aortic aneurysms. Clinical examinations showed no characteristics of a known genetic syndrome. Molecular genetic analysis revealed no mutations known to cause a form of autosomal-dominant inherited aortic disease. CONCLUSION: Adequate diagnostic measures are mandatory in families with ascending aortic aneurysms or type-A aortic dissections to identify or exclude family members at risk for aortic diseases. Even in the absence of identifiable mutations causing isolated aortic aneurysms or aortic dissections, we recommend standardised examinations of all first-degree relatives of affected families. An indication for prophylactic aortic root replacement should be considered for patients at risk.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
ADN
/
Aneurisma de la Aorta Torácica
/
Disección Aórtica
/
Proteínas de Microfilamentos
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adolescent
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Adult
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Thorac Cardiovasc Surg
Año:
2007
Tipo del documento:
Article
País de afiliación:
Alemania
Pais de publicación:
Alemania