Doctor insights on:
Is Marfan Syndrome Physically Limiting
Over-exertion is bad: Marfan syndrome persons should avoid contact sports. If symptoms are on the moderate to severe side, they can participate in non-contact, non-strenguous activities such as golf, bowling, walking, yoga, or tai-chi. If mild to moderate in severity, they can try non-contact, moderately strenguous activities such as biking or swimming. The national marfan foundation website is helpful. ...Read moreSee 1 more doctor answer
Also called : Stress cardiomiopathy and takotsubo cardiomiopathy. Women are more likely to experience the condition. Intense chest pain and shortness of breath after an emotional event like the death of a loved one, divorce, betrayal or romantic rejection. Part of your heart temporarily enlarge and do not pump well. Can be misdiagnosed as a heart attack. Most patient recover after few weeks. ...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 moreSee 1 more doctor answer
Yes: Also called takotsubo's cardiomyopathy because the apex of the heart tends to "balloon" making it look like the japanese term for an octopus trap which the heart resembles when affected. Although associated with significant stressors like death of a loved one, etc.. It can be seen in the absence of these. ...Read more
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 moreSee 1 more doctor answer
Restricts breathing: Obesity hypoventilation syndrome is a condition in which morbidly obese pts have difficulty breathing when lying flat. The weight of their own chest along with their large abdomen pushing up on their diaphragm resticts full expansion of lungs. They then dont get adequate oxygenation at night. Longterm the pts get pulmonary hyper tension and rt sided heart failure, if not treated. Weight loss/cpap. ...Read moreSee 1 more doctor answer
Disease not herited: DRESS is short for Drug Reaction with Eosinophilia Systemic Symptoms meaning usually caused by certain drugs with rashes, elevation of some body enzymes, and other blood abnormalities. Usually rashes and abnormalities disappear when the offending drug is stopped but some do progress. ...Read more
No: Marfan syndrome is caused by a mutation in a gene. The gene is dominant, so one mutation inherited from either parent will mean a child gets the disease. Sometimes the mutation is a new mutation, meaning neither parent had it. It is not caused by alcoholism nor by drug abuse. ...Read moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
Is Ehlers Danlos Syndrom 3 considered to be an autoimmune disease? Can it be treated with immune suppressants?
Histology: We are made of muscle, nerve, epithelium and connective tissue - only 4 tissue types! connective tissue is made up of various components. One of them is elastin. In marfans, these are abnormal leading to tissues that are not as strong as they should be leading to weakness in the wall of the aorta and eye (holding the lens) in particular. The syndrome has many other features you can read about. ...Read more
Is it possible for someone to have a combo of connective tissue disorders such as Marfan syndrome and ehlers danlos syndrome?
Yes, but unlikely: Both Marfan syndrome (see http://www.nhlbi.nih.gov/health/health-topics/topics/mar/) and Ehlers Danlos syndrome (see http://www.nlm.nih.gov/medlineplus/ency/article/001468.htm) are conditions where mutations in proteins that are main components of connective tissue are abnormal which can result in a number of tissue abnormalities and possible health problems.Not likely both conditions at same time ...Read more
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