atrial fibrillation, familial, 15

Atrial fibrillation, familial, 15 is a cardiac condition in which the heartbeat becomes irregular due to a mutation in the NUP155 gene. This genetic change disrupts normal heart cell function and leads to a familial form of arrhythmia. The condition is typically identified through abnormal heart rhythms such as atrial fibrillation, atrial flutter, and episodes of supraventricular tachycardia, with an increased risk for sudden cardiac death observed in some individuals. Precise prevalence estimates are not well established, and presentations may vary among affected family members.

The hallmark of this condition is atrial fibrillation, which is always present in affected individuals. Many patients also experience atrial flutter and supraventricular tachycardia, while a smaller subset may show left atrial enlargement. There is also a notable risk for sudden cardiac death, underscoring the severity of the arrhythmic events. Not all individuals experience all features, and the severity of symptoms can vary considerably from person to person.

Atrial fibrillation, familial, 15 is caused by a mutation in the NUP155 gene, which plays a critical role in the nuclear pore complex that regulates cellular transport. Disruption of its normal function can affect heart rhythm regulation, leading to the arrhythmias observed in this condition. It is inherited in an autosomal recessive pattern, meaning that an affected individual inherits two mutated copies of the gene, one from each parent. Given this inheritance pattern, genetic counseling is important for families to understand recurrence risks and options for family planning.

Currently, management focuses on supportive care and symptom management since there are no specific treatments approved for atrial fibrillation, familial, 15. Treatment strategies are tailored to individual needs and may involve a multidisciplinary team to address heart rhythm abnormalities and reduce the risk of complications. Genetic counseling is recommended to help families understand inheritance patterns and to discuss potential management options with their healthcare team.

Outcomes for individuals with atrial fibrillation, familial, 15 vary widely depending on the severity of the cardiac manifestations and the presence of complications such as sudden cardiac death. With current standards of care, many affected individuals are able to manage their symptoms effectively through supportive treatment. Outcomes described in medical literature continue to evolve as standards of care improve. Families are encouraged to connect with cardiac specialists and genetic counselors to receive personalized guidance and support.