Doctor insights on:
Marfan And Klinefelter
No: The two syndromes have some similar features, but they are different syndromes that are unrelated. Klinefelter syndrome is caused by ahaving at least one extra x chromosome in a person who has a y chromosome (normal male=46 xy, klinefelter=47xxy). Typical Marfan syndrome is caused by a mutation in fbn1, coding for fibrillin-1. ...Read more
Superficially: Both tend to make the person tall and slender. Neither causes the other. ...Read more
From the Psychological point of view, there are no traits specific to Marfan's syndrome.
Please read the following:http://www. Childrenshospital. Org/health-topics/conditions/marfan-syndrome ...Read more
Marfan syndrome is a disorder of connective tissue, the tissue that strengthens the body's structures.
Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin.
Vision problems should be treated when possible.
Monitor for scoliosis, especially during the teenage years.
Medicine to slow the heart rate may help prevent stress on the aorta. ...Read more
Good: With prompt opthalmologic intervention.Get a more detailed answer ›
Sometimes: Marfan syndrome is preventable when the adults who know they have Marfan syndrome thoughtfully choose not to have biological children (50% of their children would have the disease). Some cases are not preventable, such as the 20-30% of Marfan syndrome persons who have the disease from a new mutation (neither parent had a mutation). ...Read more
No, but.. .: Marfan synd. Doesn't skip generations, but sometimes it's mild enough that the person who seemed to have skipped the disease actually had a mild case of it. Also, it is possible that a child of a Marfan synd. Parent doesn't inherit the mutation (child is normal), but that child's child or grandchild gets a new mutation or marries a mild, undiagnosed Marfan patient... Leading to future Marfan kids. ...Read more
Marfan is caused by: A mutation in the fibrillin gene on the long arm of chromosome 15, 15q15-q21.3. Autisomal dominant inheritance with widely variable clinical findings. Aneuploidy is having an abnormal # of chromosomes from a genetic accident during cell reduction (meiosis). ...Read more
Yes, but...: Marfan as you know designates that you have very loose joints and hyperextensibility. Unfortunately this same flexibility may also apply to your heart valves or large blood vessel--the aorta--just outside the main pumping chamber of your heart. Therefore, you should receive clearance from your cardiologist before doing any serious weight lifting or resistance training traditional for body building. ...Read more
No specific benefit: Creatine has been shown to possibly improve performance in short duration high intensity anaerobic efforts. Marfan's syndrome is a disorder of connective tissue--creatine might help you increase the number of reps or speed/power of a specific aerobic exercise but won't have any specific benefit related to underlying marfan's. ...Read more
Yes: Marfan's syndrome patients die from complications of aortic valve widening. If this is treated with inderal, (propranolol) progression is slower and patients live longer. In addition, if heart valve surgey is performed electivelly patients live longer. Untrated patients have a life span of 32 years. ...Read more
Good you can see it: It's good you can admit you have hypochondria. An internist can rule out marfan's if that's your worry. Once it's proven you don't have it, then what? Are you likely to 'develop' a new disorder? If that's you, it's time to see a mental health professional. ...Read more
No: No, at least not until they have had a thorough cardiology evaluation for aortic valve and coronary artery disease. In addition, these patients have loose ligaments and are prone to frequent sprains and osteoarthritis of their shoulders, elbows, and knees. Spinal scoliosis is also common. A supervised exercise program is recommended. ...Read more
MARFAN'S SYNDROME: Marfan's sysdrome is a cnnective tissue anomally with ocular, skeletal and cardiovascular abnormalities. It is inherited as autosomal dominant. ...Read more
Good: The ability to carry a pregnancy to term is very good but the major risk is to the mother who has had previous surgery for aortic root dilatation. Any pregnancy in a mother with Marfan Syndrome has to be treated with close attention to detail, especially with close monitoring of the aortic root diameter. The delivery should be by the least strtessful method. ...Read more
Possible but still: Requires close serial evaluation.Get a more detailed answer ›
Several features: Features suggestive of Marfan syndrome include: above-average height, long arms, long fingers, flat feet, high-arched palate, narrow face, crowded teeth, small lower jaw, pectus carinatum (pigeon chest), pectus excavatum (sunken chest), hunchback (hunchback), scoliosis (crooked back), hypermobile/hyperflexible joints, etc... ...Read more
An echocardiogram: If you have Marfan syndrome, you should be aware that your cardiologist can use ultrasound to watch for the gradual enlargement of your aorta. Depending on your age, height, and weight, she can determine whether your aorta is growing larger than normal and recommend either medicine, like a beta blocker, or surgery to prevent dissection or rupture of the aorta. ...Read more