A family with NKX2.5 gene mutations presenting as familial atrial septal defect and atrioventricular block: A case report

• 발행기관: 대한의학유전학회
• 저자명: Youn Young Choi Min Hyung Woo Gi Beom Kim Mi Kyoung Song Sang Yoon Lee Eun Jung Bae Murim Choi Young-Sook Kim
• 간행물 정보: 『대한의학유전학회지』제15권 제1호, 20~23쪽, 전체 4쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2018.06.30

영문 초록

Point mutations in the human cardiac homeobox gene NKX2.5 are associated with familial atrial septal defect (ASD), atrioventricular (AV) conduction disturbance, as well as sudden cardiac death. To date, more than 60 NKX2.5 mutations have been documented, but there are no reports in Korea. We are reporting the first Korean family with ASD and AV block associated with a novel mutation in the NKX2.5 coding region. A 9-year-old boy presented with a slow and irregular pulse, and was diagnosed with secundum ASD and first degree AV block. The boy’s father, who had a history of ASD correction surgery, presented with second degree AV block and atrial fibrillation. The boy’s brother was also found to have secundum ASD and first degree AV block. There were two sudden deaths in the family. Genetic testing revealed a novel mutation of NKX2.5 in all affected members of the family.

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Case

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키워드

Homeobox protein Nkx-2.5 Atrial heart septal defects Atrioventricular block