Patient's question:
The father of the child is a Marfan patient. The child is 18 years old, 85 cm tall, and weighs 13 kg. An echocardiogram revealed mild mitral and tricuspid valve regurgitation, and the child has slight pectus excavatum.Is the child also a Marfan patient? If it cannot be confirmed whether the child is a Marfan patient, what is the percentage chance that the disease can be inherited from the child's father to the child through generations?
Treatment history and effectiveness: No treatment has been administered.
What kind of help is desired: I would like to know the percentage chance of Marfan inheritance through generations. Is my child a Marfan patient?
Doctor's answer:
According to your description. Marfan syndrome is a hereditary connective tissue disease, characterized by autosomal dominant, skipping generations inheritance. The symptoms include long and disproportionate limbs, fingers, and toes, significantly taller stature than average, accompanied by cardiovascular system abnormalities, especially split heart valve abnormalities and aortic aneurysms. The disease may also affect other organs, including the lungs, eyes, dura mater, hard palate, etc. It is recommended to take the child to the local hospital for a thorough examination to confirm.