Clinical Presentation & Protocol
Patient Usually Complains Of
Patient presents for evaluation of suspected connective tissue disorder. Reports history of tall stature, joint hypermobility, and occasional palpitations. Family history significant for aortic root dilation and sudden cardiac death. Denies visual disturbances or spontaneous pneumothorax.
Clinical Examination Findings
Physical exam reveals dolichostenomelia, arachnodactyly, and positive wrist (Walker-Murdoch) and thumb (Steinberg) signs. Pectus excavatum noted. Cardiac auscultation demonstrates mid-systolic click or diastolic murmur suggestive of mitral valve prolapse or aortic regurgitation. High-arched palate and dental crowding observed.
Treatment Protocol
Initiate long-term management with beta-blockers or ARBs to reduce aortic wall stress. Regular echocardiographic monitoring of aortic root diameter is mandatory. Referral to ophthalmology for slit-lamp examination to rule out ectopia lentis. Orthopedic consultation for scoliosis monitoring and physical therapy for joint stability.