aortic aneurysm, familial thoracic 10

Aortic aneurysm, familial thoracic 10 is an inherited disorder of the large blood vessels that carry blood from the heart. It is primarily characterized by weakening and enlargement of the thoracic aorta, especially the aortic root, which can lead to life-threatening dissection or rupture. The condition results from pathogenic variants in the LOX gene, which provides instructions for an enzyme important in strengthening connective-tissue fibers. Although cases have been described across a wide age range, many individuals are first identified in adolescence or adulthood when imaging detects an enlarged aorta or after an acute event. Precise prevalence figures are not well established, but it is considered uncommon and often recognized only when targeted screening is performed in families.

Severity and symptoms vary widely between individuals. The hallmark feature is enlargement of the aortic root, a finding reported in nearly every affected person and often the clue that prompts genetic evaluation. Progressive dilation can involve the ascending and sometimes the arch or abdominal portions of the aorta, and a subset experience acute aortic dissection, a surgical emergency. Cardiovascular manifestations dominate the clinical picture. In addition to aneurysms, some individuals have bicuspid aortic valve, left ventricular hypertrophy, or mitral valve regurgitation that may contribute to heart murmurs or reduced exercise tolerance. Connective-tissue and skeletal findings occur in a smaller proportion and include joint hypermobility, scoliosis, high palate with dental crowding, disproportionate tall stature, pectus excavatum, and stretch marks of the skin. Ocular involvement such as myopia has been reported, and dural ectasia may be noted on spinal imaging in select cases. Not all individuals experience all features, and even within the same family the combination and severity of findings can differ considerably, underscoring the condition’s variable expressivity.

Aortic aneurysm, familial thoracic 10 is inherited in an autosomal dominant pattern, meaning a change in one copy of the LOX gene is sufficient to increase the risk of disease. LOX encodes lysyl oxidase, an enzyme that initiates cross-linking of collagen and elastin, two proteins that lend strength and elasticity to the aortic wall and other connective tissues. Disruption of this process weakens the vessel wall, allowing it to stretch and form an aneurysm. Each child of an affected individual has a 50 percent chance of inheriting the altered gene. Even when the variant is shared, the clinical presentation can range from mild skeletal findings to early, aggressive aortic disease, illustrating variable expressivity. Because early diagnosis in family members can be lifesaving, relatives should be offered genetic counseling and testing.

Currently, management focuses on supportive care and symptom management. Long-term care relies on regular surveillance to track aortic size and detect complications before they become serious. Imaging of the aorta, often beginning at diagnosis and repeated at intervals determined by vessel diameter and growth rate, is central to monitoring. Medications aimed at gentle blood-pressure control may be prescribed to reduce stress on the aortic wall, and individuals are advised to avoid intense isometric exercise or heavy lifting that acutely raises blood pressure. Elective surgical repair of the aorta is considered when measurements approach thresholds associated with higher dissection risk, with timing personalized by patient size, growth pattern, and family history of early rupture. Because features can span multiple organ systems, care is ideally coordinated by a multidisciplinary team that may include cardiologists, cardiothoracic surgeons, medical geneticists, and, when skeletal manifestations are prominent, orthopedists or physical therapists. Genetic counseling helps families understand inheritance, plan family screening, and make informed reproductive decisions.

Outcomes depend on many factors including the size and rate of growth of the aorta, age at diagnosis, adherence to monitoring plans, and timely surgical intervention. With vigilant imaging surveillance, appropriate medical management, and elective repair when indicated, many individuals live active lives and avoid catastrophic aortic events. Nevertheless, the risk of sudden dissection remains, particularly if aneurysms are undetected or rapidly enlarge. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists experienced in heritable aortic disease and to enroll in disease registries that track long-term outcomes and support research.