Atrial fibrillation (AF) is the most prevalent type of cardiac arrhythmia and is commonly associated with other cardiovascular disorders, but in up to 30% of cases there is no evidence of overt heart disease. This condition is called lone or idiopathic AF. About 15% of lone AF presents as familial disorder. (PMID:24333117, 23551519)
Olson et al. (2006) reported a 55-year-old female proband who had recurrent palpitations in childhood and was diagnosed with lone atrial fibrillation at age 35. Atrial fibrillation worsened over time, increasing to multiple daily occurrences. Rhythm control was ... Olson et al. (2006) reported a 55-year-old female proband who had recurrent palpitations in childhood and was diagnosed with lone atrial fibrillation at age 35. Atrial fibrillation worsened over time, increasing to multiple daily occurrences. Rhythm control was refractory to pharmacotherapy and radiofrequency ablation, necessitating pacemaker implantation. Family history was positive for early-onset atrial fibrillation with diagnosis in 2 of the proband's brothers and an oldest niece. Palpitations consistent with paroxysmal disease were present in 2 younger sibs, all 3 of her children, and a youngest niece.
Using a candidate gene approach, Olson et al. (2006) screened 154 unrelated individuals with isolated atrial fibrillation for mutations in the KCNA5 gene. In a female proband and 2 sibs with isolated atrial fibrillation, the authors identified heterozygosity ... Using a candidate gene approach, Olson et al. (2006) screened 154 unrelated individuals with isolated atrial fibrillation for mutations in the KCNA5 gene. In a female proband and 2 sibs with isolated atrial fibrillation, the authors identified heterozygosity for an E375X (176267.0001) mutation, which was not found in 540 control samples. Yang et al. (2009) analyzed 12 known susceptibility genes in 120 unrelated Chinese families with atrial fibrillation and identified 3 mutations in KCNA5 in 4 probands (176267.0002-176267.0004), for an approximate total population prevalence of 3.3%. Two of the mutations were subsequently also identified in 3 of 256 unrelated sporadic atrial fibrillation patients.