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)
Atrial fibrillation, familial, 12 is a sub-type of familial atrial fibrillation. For symptom annotation please refer to familial atrial fibrillation.
Olson et al. (2007) studied a 53-year-old white woman who presented with a 10-year history of daily paroxysms of atrial fibrillation (AF) that peaked with morning activity. At the time of presentation, the episodes were increasing in frequency ... Olson et al. (2007) studied a 53-year-old white woman who presented with a 10-year history of daily paroxysms of atrial fibrillation (AF) that peaked with morning activity. At the time of presentation, the episodes were increasing in frequency and associated with near syncope. Myocardial, valvular, and coronary artery disease were excluded by echocardiography and cardiac perfusion stress testing; ventricular wall thickness and atrial volume were normal. Electrophysiologic analysis identified a focal source of rapidly firing electrical activity within the vein of Marshall, which initiated AF under adrenergic provocation. The patient's AF was refractory to antiarrhythmic medical management, but was eliminated after electrical isolation of the vein of Marshall; she remained in sinus rhythm and symptom free over a 2.5-year follow-up period.
In a 53-year-old white woman with paroxysmal AF, Olson et al. (2007) sequenced cardiac ion channel genes and identified a heterozygous missense mutation in the ABCC9 gene (T1547I; 601439.0003) that was not found in 2,000 unrelated and predominantly ... In a 53-year-old white woman with paroxysmal AF, Olson et al. (2007) sequenced cardiac ion channel genes and identified a heterozygous missense mutation in the ABCC9 gene (T1547I; 601439.0003) that was not found in 2,000 unrelated and predominantly white controls. The patient's first-degree relatives declined to undergo clinical or genetic testing. Targeted screening for the T1547I ABCC9 mutation in an additional 154 patients with diverse presentations of AF indicated that this specific genetic substitution is not common.