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Objective

To search for a genetic basis in a family with autosomal dominantly inherited atrial septal defect in combination with increasing conduction anomalies.

Design

We searched for mutations in the NKX2.5 gene by sequencing of desoxyribonucleic acid in a previously investigated family.

Patients

All family members were included if they, after informed consent, had decided to participate in the genetic testing. A blood sample was sent from local doctors for analysis of potential mutations. Patients with cardiac anomalies were examined in our hospital. For those family members without cardiac anomalies, we relied on local information.

Results

We identified the mutation Q149X in the NKX2.5 gene on chromosome 5q35 in all patients with atrial septal defect and disturbances of atrioventricular conduction. No family member without an atrial septal defect possessed the mutation, including a member with transposed arterial trunks.

Conclusion

We have identified a mutation in the NKX2.5 gene responsible for autosomal dominantly inherited atrial septal defect in the oval fossa combined with disturbances of atrioventricular conduction in 7 patients spanning 4 generations.

It is rare to find congenital cardiac disease in association with familial primary hypertrophic osteoarthropathy. We have now encountered three siblings, two of whom had digital clubbing, patent arterial ducts and delayed closure of the cranial fontanels. The third infant was unusual in that there was no clubbing, or cranial abnormality, despite a small ventricular septal defect. To the best of our knowledge, this association has not previously been observed.

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Familial atrial septal defect in the oval fossa with progressive prolongation of the atrioventricular conduction caused by mutations in the NKX2.5 gene

Familial primary hypertrophic osteoarthropathy in association with congenital cardiac disease

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2 results

Familial atrial septal defect in the oval fossa with progressive prolongation of the atrioventricular conduction caused by mutations in the NKX2.5 gene

Familial primary hypertrophic osteoarthropathy in association with congenital cardiac disease