Abstract
Herein, we report on a family with Carney complex. Four members of the family underwent a total of 11 open heart operations as well as 9 other operations to treat extrathoracic masses. All the family members met at least 2 major clinical criteria and 1 supplemental criterion. We analyzed their genomic loci, including the protein kinase A regulatory subunit 1 gene. The results revealed no specific mutations, except for a common single nucleotide polymorphism. This case series of Carney complex emphasizes the importance of close longitudinal follow-up because of the high rate of tumor recurrence irrespective of the site. Clinicians should not overlook the specific features of familial myxoma.
