Original ArticlesReduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections☆
Section snippets
Clinical evaluation
Families were recruited for this study by some of the investigators, and available medical records and autopsy reports of all affected family members were reviewed. In all the families whose cases are presented here, the diagnosis of Marfan syndrome was excluded through evaluation by 1 of the researchers.8 After appropriate consent was obtained, blood samples or buccal cells were obtained from some of the members of families 2 and 3. Echocardiograms were done for some of the subjects at risk
Discussion
We describe here 6 families with aggregation of thoracic aortic aneurysms without the skeletal or ocular manifestation characteristic of Marfan syndrome. The lack of linkage of the disease to intragenic polymorphic markers in FBN1 in families 2 and 3 clearly distinguishes the thoracic aortic aneurysm syndrome in these families from Marfan syndrome. Furthermore, the fact that the phenotype was not linked to markers at the 3p24-25 loci for a Marfan-like connective tissue disease7 demonstrates
Acknowledgements
We thank the families who participated in this study, Alan Rodgers and Jaime Gomez for their excellent technical assistance, Wendy Ullman and Cathy Evers for helping collect clinical data on patients, and Norma Adams for preparing the manuscript.
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This study was supported by grant M01-RR-02-558 (Clinical Research Center Grant) from the National Institutes of Health, Bethesda, Maryland, and by an Established Investigator Grant from the American Heart Association National Center, Dallas, Texas, to Dr. Milewicz.