Key result
Gene sequencing identified 24 different genes in 6 patients with familial III degree atrioventricular block compared to normal subjects, suggesting incomplete dominant inheritance.
Observational (n=22)
Familial III degree AVB in this pedigree appears to be caused by incomplete dominant autosomal inheritance involving multiple potential genetic mutations.
No immediate clinical implications for familial AV block; leaves open confirmation of incomplete dominant inheritance in larger cohorts.
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.
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Zhang et al. (2016) conducted an observational in Familial III degree atrioventricular block (AVB) (n=22). Genetic mutations vs. Normal subjects was evaluated on Detection of pathogenic genes. Gene sequencing identified 24 different genes in 6 patients with familial III degree atrioventricular block compared to normal subjects, suggesting incomplete dominant inheritance.
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