Question

An 8-year-old male presents with abnormally long, thin fingers, abnormally long limbs, and heart murmurs (indicating an issue with a heart valve). Genetic testing revealed the patient has a defect in the fibrillin-1 gene on chromosome 15. What is the most likely diagnosis and treatment?

a) Marfan syndrome; Beta-blockers
b) Ehlers-Danlos syndrome; Vitamin C supplementation
c) Turner syndrome; Growth hormone therapy
d) Down syndrome; Supportive care

Answer 1

An 8-year-old with long fingers, limbs, and heart murmurs, and a fibrillin-1 gene defect likely has Marfan syndrome, treated with beta-blockers.

Step-by-step explanation:

The most likely diagnosis for an 8-year-old male with abnormally long, thin fingers, abnormally long limbs, and heart murmurs, along with a genetic defect in the fibrillin-1 gene on chromosome 15, is Marfan syndrome. Marfan syndrome is indeed caused by mutations in the fibrillin-1 gene, affecting the body's connective tissue. This can lead to features such as long limbs and fingers, and cardiovascular issues such as heart murmurs due to valve problems. The treatment option among the presented choices that would be appropriate for Marfan syndrome is the use of beta-blockers, which help to manage cardiovascular symptoms by reducing the heart rate and the force of cardiac muscle contraction.