atrial fibrillation, familial, 6

Atrial fibrillation, familial, 6 is an inherited cardiac condition primarily characterized by episodes of an irregular heartbeat. It is caused by mutations in the NPPA gene, which plays an important role in regulating blood pressure and fluid balance in the heart. This condition generally presents in adulthood, although the exact age of onset can vary, and prevalence data is not well established. It is inherited in an autosomal dominant pattern, meaning an affected individual has a 50% chance of passing the mutation to their children.

The hallmark feature of this condition is atrial fibrillation, which is observed in all affected individuals. In addition, some patients may show structural changes in the heart, such as left atrial enlargement and an elevated left ventricular end-diastolic diameter, which are reported in approximately 30 to 79% of cases. Not all individuals experience all features, and severity varies considerably.

This condition is caused by a mutation in the NPPA gene. The NPPA gene provides instructions for making atrial natriuretic peptide, a protein essential for regulating blood pressure and maintaining fluid balance in the heart. It is inherited in an autosomal dominant manner, which means that a single copy of the mutated gene is sufficient to cause the condition, and each child of an affected individual has a 50% chance of inheriting the mutation. Genetic counseling is recommended for families to discuss inheritance and testing options.

Currently, management focuses on supportive care and symptom management. As no treatments have been specifically approved for familial atrial fibrillation associated with NPPA mutations, care is tailored to the individual and typically involves a multidisciplinary team. Patients should discuss treatment options with their healthcare team, and genetic counseling may provide further guidance in managing the condition.

The long-term outlook for individuals with familial atrial fibrillation due to NPPA mutations can vary widely, with outcomes influenced by symptom severity, age at diagnosis, and access to specialized care. With current standards of care, many individuals maintain a good quality of life despite recurrent episodes. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with this condition and to seek genetic counseling for additional support.