Question

Jane, age 28 is a tall slender school teacher. Two weeks ago her 25 year old brother died suddenly during a pick-up basketball game at lunchtime with his friends at work. His autopsy report indicated that he had ruptured an aortic aneurysm which had never been diagnosed. Joe was also quite tall and slender and was a starting center for his high school basketball team. His old pediatrician came to the funeral and talked with Jane saying that he thought Joe had Marfan syndrome and that Jane may also have it. (Jane and Joe’s very tall father had died in a car accident at age 35.) He recommended that Jane see a cardiologist and a geneticist as soon as possible. Jane followed this recommendation and was diagnosed with Marfan Syndrome. She is very upset, wondering if she too will die young. In addition, she is engaged and wonders whether she can pass this disorder on to her children.

What are the chances that Jane can pass this disorder on to her children if her fiancé does not also have Marfan syndrome(he is taller than Jane)?

What can Jane do to prevent an early death?

Which of her usual activities can Jane continue, and which should she avoid?

Which additional health-care professionals should be recommended for Jane to help monitor for potential health problems? Provide a rationale for your selections.

Answer 1

Marfan sybdrome is a group of disorder which usually affect the connective tissues.

If one parent is having this syndrome there is 50% chance of transferring to their children.Jane has a chance of passing 50% to her child when her partner Joe is not having any problem though he is tall. (Some people are tall genetically not all people who are tall means having Marfan syndrome)

Jane can do the following to prevent an early death are

• No strenuous activities or sports because exercise causes an increased pressure on the blood vesseks)
• Simple life style changes like diet modifications, no smoking and alcohol, medication as per order
• Regular screening for the function of heart
• Periodic eye testing to prevent vision loss
• Controlling of managing stress

Jabe can continue teaching in a happier way,daily activitiesaerobic exercise. She has to avoid smoking, heavy strenuous activities ,contact sports,which may rupture the aorta,OTC, has yo strictly avoided

The additional health care professionals are

• Cardiologist :to monitor the heakth condition of the heart
• Orthopepaedician : go rule out the home and muscle strength
• Genetic counsellor :to educate about the progress and nature of the diseases and if planning for children