Study Subjects
Patients with early onset familial AF, including a multiplex Lebanese
family with early onset familial AF, cardiomyopathy, and heart block
requiring pacemaker placement were referred to the Yale Cardiovascular
Genetics clinic for genetic screening. All other kindreds had isolated
AF with no structural heart disease. The protocol was approved by the
institutional review board at Yale University School of Medicine.
Informed consent to participate in the study and to undergo genetic
sequencing was obtained from all patients. Detailed clinical
information, including laboratory data and clinical imaging were
collected. Genomic DNA was extracted from peripheral blood leukocytes
and sent for exome sequencing. Family history was obtained from the
index cases, and pedigrees were constructed based on self-reported
phenotypes.