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Familial atrial fibrillation is an autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. [ 1 ] [ 2 ] This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria ), which causes the heartbeat to become fast and irregular.
Atrial fibrillation is associated with an increased risk of heart failure, dementia, and stroke. [3] [12] It is a type of supraventricular tachycardia. [14] Atrial fibrillation frequently results from bursts of tachycardia that originate in muscle bundles extending from the atrium to the pulmonary veins. [15]
This example is taken from a GWA study investigating kidney stone disease, so the peaks indicate genetic variants that are found more often in individuals with kidney stones. When applied to human data, GWA studies compare the DNA of participants having varying phenotypes for a particular trait or disease.
Situs ambiguus has been linked to family history of malformations [8] [9] and maternal cocaine use, [10] suggesting both genetic and environmental factors play a role. [11] Several genes in the TGF-beta pathway , which controls left-right patterning of visceral organs across the body axis, have been indicated in sporadic and familial cases of ...
Functionally validating novel genetic findings is crucial in rare disease. However, the analysis of individual genetic variants often requires several years of work. Variants that are most likely to occur and present as disease-causing can be predicted; distinct from and supplementary to pathogenicity prediction.
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited genetic disorder that predisposes those affected to potentially life-threatening abnormal heart rhythms or arrhythmias. The arrhythmias seen in CPVT typically occur during exercise or at times of emotional stress, and classically take the form of bidirectional ...
With Atrial fibrillation, or A-fib or AF, signals move around the atria in a completely disorganized way that tends to override the sinus node. Instead of a one big contraction then, you get all these mini contractions that make it just look like the atria are just quivering.
It can result from an injury or be a genetically inherited disorder. [ 14 ] Atrioventricular nodal re-entry tachycardia , [ 11 ] which is caused by a dual AV node physiology and AVNRT can only occur in people with it, however almost half of the population have it, though only a few of them will develop AVNRT at some point in life.