aortic aneurysm, familial thoracic 9

Familial thoracic aortic aneurysm, familial thoracic 9 is a condition affecting the aorta that results from a mutation in the MFAP5 gene. The mutation disrupts the structure and integrity of the aortic wall, predisposing individuals to aneurysms and dissections. It is inherited in an autosomal dominant pattern, meaning that a single altered copy of the gene can lead to the condition. Because precise prevalence data are not available, the frequency of the condition in the population is not well established.

The clinical features of this condition primarily center on the cardiovascular system and related connective tissue manifestations. Commonly reported findings include aortic tortuosity and, in some cases, ascending aortic dissection. Other associated features include a high palate, dural ectasia, arachnodactyly, mitral valve prolapse, atrial fibrillation, pectus excavatum, and pectus carinatum, although not every individual will experience all of these features. Not all individuals experience all features, and severity varies considerably.

This condition is caused by pathogenic variants in the MFAP5 gene, which plays a role in maintaining the strength and elasticity of connective tissue in the aortic wall. It is inherited in an autosomal dominant manner, meaning that a single copy of the altered gene is sufficient to increase the risk for developing the condition. That even among family members carrying the variant, the specific symptoms and their severity can vary, a phenomenon known as variable expressivity.

Currently, management of familial thoracic aortic aneurysm, familial thoracic 9 focuses on supportive care and symptom management. Treatment is tailored to the individual and typically involves a multidisciplinary team, which may include cardiologists and cardiovascular surgeons who monitor aortic dimensions and manage complications as needed. Patients should discuss treatment options with their healthcare team to determine which therapies may be appropriate for their specific situation, and genetic counseling is recommended for families to understand the inheritance implications.

Outcomes vary considerably depending on the severity of aortic involvement, age at diagnosis, and access to specialized care. Many individuals benefit from modern surveillance and management strategies that have improved the overall outlook for aortic conditions, and ongoing advancements in care continue to influence outcomes. That the clinical course may be variable, and not everyone will experience all associated complications. Families often find it helpful to connect with specialists and genetic counselors to discuss long-term management and family planning options. Outcomes described in medical literature continue to evolve as standards of care improve.

Clinical trials are underway exploring new treatment approaches for this condition. Individuals interested in clinical trials can search ClinicalTrials.gov or discuss eligibility with their care team.