Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene.

ABSTRACT:

Objectives

To describe the clinical findings and natural history in 22 carriers of an R460H mutation in the transforming growth factor beta receptor 2 gene (TGFbetaR2) from a five-generation kindred ascertained by familial aortic dissection.

Methods

13 of the confirmed carriers were interviewed and examined, and information about the remaining carrier was obtained from medical records. Clinical information about deceased individuals was obtained, when possible, from postmortem reports, death certificates and medical records.

Results

There have been eight sudden deaths; the cause of death was aortic dissection in all six cases in which a postmortem examination was performed. Three individuals had undergone aortic replacement surgery. Dissection had occurred throughout

SUBMITTER: Law C 

PROVIDER: S-EPMC2563201 | biostudies-literature | 2006 Dec

REPOSITORIES: biostudies-literature