Q87.410

Clinical Causes: Mutations in the FBN1 gene leading to abnormal fibrillin-1 protein production. Inheritance pattern is usually autosomal dominant, meaning only one copy of the altered gene from either parent can cause the disorder. In some cases, no family history is present, and mutations occur spontaneously.

Key Symptoms: Tall and slender build with long arms, legs, fingers, and toes. Flexible joints and scoliosis (curved spine). Chest deformities such as pectus excavatum (sunken chest) or pectus carinatum (protruding chest). Eye issues like lens dislocation, myopia (nearsightedness), or early glaucoma. From a cardiovascular perspective, the most concerning symptom is aortic dilation, which may not cause symptoms initially but can lead to serious complications if left unmanaged. In some cases, chest pain or palpitations related to heart valve issues or vessel dilation.

Diagnosis Path: Physical examination focusing on characteristic skeletal features and joint flexibility. Echocardiogram (heart ultrasound) to assess the size of the aorta and heart valve function. Magnetic resonance imaging (MRI) or computed tomography (CT) scans to visualize the aorta and detect dilation or aneurysm. Genetic testing for mutations in the FBN1 gene to confirm diagnosis, especially in uncertain cases. Evaluation of eye health by an ophthalmologist to identify lens dislocation or other issues.

Treatment Protocols: Regular monitoring of the aortic size through imaging studies to detect any changes promptly. Medications such as beta-blockers or angiotensin receptor blockers to slow the dilation of the aorta. Surgical intervention may be necessary if the aorta reaches a critical size or shows signs of impending rupture, with procedures like aortic repair or replacement. Management of associated features such as skeletal deformities and vision problems through specialized therapies. Lifestyle modifications including avoiding strenuous activities that could strain the heart and vessels. Genetic counseling for affected individuals and family members to understand inheritance patterns and risks.