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(Circulation. 1970;41:677.)
© 1970 American Heart Association, Inc.

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Familial Atrial Septal Defect with Prolonged Atrioventricular Conduction

A Syndrome Showing the Autosomal Dominant Pattern of Inheritance

RAUL O. BIZARRO M.D.¹; JOHN A. CALLAHAN M.D.¹; ROBERT H. FELDT M.D.¹; LEONARD T. KURLAND M.D.¹; HYMIE GORDON M.D.¹; ROBERT O. BRANDENBURG M.D.¹

¹ From the Departments of Medicine, Pediatrics, and Medical Statistics, Epidemiology and Population Genetics, Mayo Clinic and Mayo Foundation, and Mayo Graduate School of Medicine (University of Minnesota), Rochester, Minnesota.

Atrial septal defect (ASD) of the fossa ovalis type was found in 16 members of one family and confirmed in 15 members at autopsy or surgery or by cardiac catheterization. Sinus rhythm was present in 12 affected members, 11 of whom had electrocardiographic evidence of prolonged atrioventricular (A-V) conduction. Five other family members without ASD also had prolonged A-V conduction. The pedigree chart suggests that the syndrome ASD with prolonged A-V conduction is the manifestation of a single mutant autosomal gene with dominant effect, a high degree of penetrance, and some variation in expressivity. Earlier reports of familial ASD showing the autosomal-dominant pattern of inheritance reveal a similar frequency of prolonged A-V conduction among affected persons. The great majority of cases of ASD are sporadic, with little likelihood of recurrence in subsequent sibs or children. We suggest, however, that when ASD of the fossa ovalis type is accompanied by prolonged A-V conduction, the genetic prognosis may be drastically changed to a risk of almost 50% that the condition will recur in subsequent sibs or children of affected persons.

Key Words: Electrocardiography • Fossa ovalis • Atrial fibrillation catheterization • Genetic counselling

Submitted on October 17, 1969
Accepted on December 18, 1969

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