atrial fibrillation, familial, 10

Familial atrial fibrillation, type 10, is a heart rhythm disorder that affects the way the heart’s electrical system controls its beating. This condition is caused by a mutation in the SCN5A gene, which plays a critical role in generating the electrical signals that trigger heart contractions. It follows an autosomal dominant inheritance pattern, meaning that a single copy of the altered gene can predispose an individual to the condition. Prevalence details are not well established, and individuals with this genetic change can experience a range of symptoms and severity.

The clinical features of familial atrial fibrillation, type 10 primarily affect the heart’s structure and rhythm. A defining characteristic is tricuspid regurgitation, which is consistently observed, while many individuals also experience bradycardia. Cardiac rhythm issues such as permanent and paroxysmal atrial fibrillation are common, and an enlarged left atrium has been reported in a significant number of cases. Other features including right ventricular dilatation, stroke, atrial flutter, and left ventricular hypertrophy are noted less frequently. Not all individuals experience all these findings, and severity varies considerably.

This condition arises from a mutation in the SCN5A gene, which encodes a sodium channel essential for the proper conduction of electrical signals in the heart. The mutation disrupts normal heart rhythm, contributing to the development of atrial fibrillation. Familial atrial fibrillation, type 10 is inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene can increase the risk of developing the condition. That not all individuals who carry the mutation will necessarily experience symptoms, and there is considerable variability in how the condition manifests among affected family members.

Currently, management for familial atrial fibrillation, type 10 focuses on supportive care and symptom management, as there are no treatments specifically approved for this condition. A multidisciplinary approach is recommended, with care typically involving cardiologists and other specialists to monitor heart function and address complications. Patients are encouraged to discuss treatment options with their healthcare team to tailor management strategies to their individual needs, and genetic counseling is advised for families to better understand the implications of the autosomal dominant inheritance pattern.

The outlook for individuals with familial atrial fibrillation, type 10 can vary widely based on the severity of symptoms, age at diagnosis, and access to specialized care. With current standards of care, many individuals manage the condition effectively into adulthood, although the course may range from relatively stable to occasionally progressing over time. Outcomes described in medical literature continue to evolve as standards of care improve. Families are encouraged to connect with cardiology specialists and genetic counselors for personalized guidance and support, as well as to explore available patient support groups.