One familial III degree atrioventricular block and its gene detection

Abstract

Objective: To investigate the incidence and pathogenic genes of familial III degree atrioventricular block (AVB). Data and Methods: The clinical features of all members of the family were collected, including physical examination, electrocardiogram, and echocardiography. Their genes by gene sequencing and mutation analysis were detected. Results: This family contains 22 members, including six patients. The symptom began to appear in the heart at 40 years old, performing for II degree AVB, eventually developed into the III degree AVB. These six cases have been performed permanent pacemaker implantation. The genetic family chart spectrum suggested that the autosomal may not be completely dominant. Compared with normal subjects, 24 different genes were detected in patients with familial AVB. Conclusion: This family is unambiguously affected by familial AVB, and it is caused by incomplete dominant inheritance of euchromosome, and another genetic mutations may contribute to it.

Keywords

• Arrhythmia
• atrioventricular block
• cardiology
• family study
• gene mutation