Sign-in to Ask A Doctor - 24x7
OR
Sign in with Google
Suggest Treatment For Symptoms Of Marfan Syndrome
Question: I am a 45 year old woman, and I have had two chronic lacunar infarcts / strokes. I have had migraines since I was around 6 years old, and have had menstrual migraines since I was around 40. I have just had a Transesophageal Echocardiogram which identified myxomatous and redundant valve leaflets, bileaflet mitral valve prolapse with mild, mid to late systolic mitral regurgitation and moderate aortic root dilatation at the sinuses of valsalva, which is 4.5 cm at the root and 3.5 cm at the ascending aorta with grade 2 (intimal thickening) atheromatous plaque in the arch and descending thoracic aorta. I also have high blood pressure, which I am medicated for. I have Fuchs Corneal Dystrophy, which is a degenerative corneal disease that affects your vision. I have had both MRI'S and MRA's, which identified narrowing of arteries in the base of my skull/ neck. I have degenerative lumbar and cervical spine, cervical radiculitis, arthritis, and mild scoliosis. I have acid reflux disorder and asthma. I also have some of the other physical characteristics that align with symptoms of Marfan's Syndrome. These include long fingers and toes, double jointed thumbs, thin wrists and flat feet. I hope to get tested through genetic bloodwork ASAP, but will need my doctor's advice. Life has become pretty scary and complicated for me, but I try to stay positive. I will be returning to my Cardiologist, Dr. XXXXXXX Shipon, in about a week. I have been feeling tired, rundown and have had a lack of energy progressively for several years. It seems odd that until the recent casual mentioning of my neurologist, asking if I have ever been tested for Marfan's Syndrome, that no one had noticed any of these connections? I am very concerned about my two boys, who are 27 and 17, and my 2 year old grandson. I am trying not to panic, but I am also scared about having to have heart surgery. Any advice? Does it add up, that I would think it necessary to be tested for Marfan's Syndrome?
Brief Answer:
My opinion as follows:
Detailed Answer:
Hello!
Welcome and thank you for asking on HCM!
I carefully passed through your question and reviewed all your uploaded test reports and would explain that your symptoms could be related to Marfans Syndrome.
Do you have any family member with these physical characteristics? What about your parents? Are they alive?
There are some clinical criteria for the diagnosis of Marfans Syndrome. (Ghent criteria), based on cardiac and ocular symptoms and also family history.
Regarding your the dilation of aortic root, you should know that there is a score (Z score), which evaluates this diameter, depending on your age and BSA (Body surface area). I would like to know your height and your weight, in order to calculate this score for you. Aortic root dilatation Z score of 2 or greater would raise suspicions of possible Marfans Syndrome.
From the other hand, the changes is your skeletal system raise suspicions on this disorder.
Other characteristics of this disorder include also eye affection (usually lens dislocation), which you do not have. But you suffer from another eye disorder, which does not seem to be related to this disorder.
Regarding your Brain MRI, I would like to explain that only the right PICA (posterior inferior cerebellary arteries) has resulted a little narrowed, but the cerebellar infarcts are bilateral, which raises suspicions of possible cardiac cause, besides changes in the arteries.
You do not have any brain aneurysms which could result life-threatening. But the looping in the ICA arteries could be related to Marfans syndrome (as it is well known that brain arteries change their shape in this disorder).
Coming to this point, I would recommend consulting with a genetic disorders specialist and performing test for Marfans syndrome, as it is the only test that can rule in/out this disorder (especially when clinical criteria are suspicious but not fulfilled).
Hope you will find this answer helpful!
Kind regards,
Dr. Iliri
My opinion as follows:
Detailed Answer:
Hello!
Welcome and thank you for asking on HCM!
I carefully passed through your question and reviewed all your uploaded test reports and would explain that your symptoms could be related to Marfans Syndrome.
Do you have any family member with these physical characteristics? What about your parents? Are they alive?
There are some clinical criteria for the diagnosis of Marfans Syndrome. (Ghent criteria), based on cardiac and ocular symptoms and also family history.
Regarding your the dilation of aortic root, you should know that there is a score (Z score), which evaluates this diameter, depending on your age and BSA (Body surface area). I would like to know your height and your weight, in order to calculate this score for you. Aortic root dilatation Z score of 2 or greater would raise suspicions of possible Marfans Syndrome.
From the other hand, the changes is your skeletal system raise suspicions on this disorder.
Other characteristics of this disorder include also eye affection (usually lens dislocation), which you do not have. But you suffer from another eye disorder, which does not seem to be related to this disorder.
Regarding your Brain MRI, I would like to explain that only the right PICA (posterior inferior cerebellary arteries) has resulted a little narrowed, but the cerebellar infarcts are bilateral, which raises suspicions of possible cardiac cause, besides changes in the arteries.
You do not have any brain aneurysms which could result life-threatening. But the looping in the ICA arteries could be related to Marfans syndrome (as it is well known that brain arteries change their shape in this disorder).
Coming to this point, I would recommend consulting with a genetic disorders specialist and performing test for Marfans syndrome, as it is the only test that can rule in/out this disorder (especially when clinical criteria are suspicious but not fulfilled).
Hope you will find this answer helpful!
Kind regards,
Dr. Iliri
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Dear Dr. Iliri,
My height is 5 feet 8 inches, and my weight is 161 pounds. Again, my aortic root dilatation is 4.5. I used the Marfan's Syndrome website, and came up with 4.13 as my Z score. Is this accurate according to your method of calculation?
Also, my father's body type visually fits, in my opinion. He is 68, approximately 6 feet 3 inches, and wears a US size 13 1/2 narrow shoe. He has very long hands, and has always had a skinny build, too. He is nearsighted and has had cataract surgery. His father, my paternal grandfather, died when my father was a young teen. He had degenerative spine issues, and a rare genetic adult case of Hand–Schüller–Christian disease. It was said to be so rare, that it was written up in the medical journals.
My father lives outside of the United States, and we don't communicate too much, so I am not certain of his weight. But, he has had illness most of his life. If I am found to be positive for Marfan's, I will contact him.
Thank you sincerely for your time and effort involved in helping me to answer my questions. I greatly appreciate it.
Sincerely, XXXXXXX XXXX
My height is 5 feet 8 inches, and my weight is 161 pounds. Again, my aortic root dilatation is 4.5. I used the Marfan's Syndrome website, and came up with 4.13 as my Z score. Is this accurate according to your method of calculation?
Also, my father's body type visually fits, in my opinion. He is 68, approximately 6 feet 3 inches, and wears a US size 13 1/2 narrow shoe. He has very long hands, and has always had a skinny build, too. He is nearsighted and has had cataract surgery. His father, my paternal grandfather, died when my father was a young teen. He had degenerative spine issues, and a rare genetic adult case of Hand–Schüller–Christian disease. It was said to be so rare, that it was written up in the medical journals.
My father lives outside of the United States, and we don't communicate too much, so I am not certain of his weight. But, he has had illness most of his life. If I am found to be positive for Marfan's, I will contact him.
Thank you sincerely for your time and effort involved in helping me to answer my questions. I greatly appreciate it.
Sincerely, XXXXXXX XXXX
Brief Answer:
My opinion as follows:
Detailed Answer:
Dear XXXXXXX
I calculated your Z score and would explain that it is true that it is around 4.14 in your case. So, it is one of the diagnostic criteria for Marfan's Syndrome.
From the other hand, your fathers physical characteristics raise suspicions of Marfan's Syndrome.
Besides, the fact that he has had eye problems and you also have eye problems (even though not the same), is another argument in favor of this diagnosis.
So, I would strongly recommend performing this test.
Regarding the aortic root dilation, I would recommend periodically scheduled follow ups by your cardiologist with cardiac ultrasound to monitor its possible progression. An angio CT scan of the aorta would give more information on this disorder.
Hope you will find this answer helpful!
Best wishes,
Dr. Iliri
My opinion as follows:
Detailed Answer:
Dear XXXXXXX
I calculated your Z score and would explain that it is true that it is around 4.14 in your case. So, it is one of the diagnostic criteria for Marfan's Syndrome.
From the other hand, your fathers physical characteristics raise suspicions of Marfan's Syndrome.
Besides, the fact that he has had eye problems and you also have eye problems (even though not the same), is another argument in favor of this diagnosis.
So, I would strongly recommend performing this test.
Regarding the aortic root dilation, I would recommend periodically scheduled follow ups by your cardiologist with cardiac ultrasound to monitor its possible progression. An angio CT scan of the aorta would give more information on this disorder.
Hope you will find this answer helpful!
Best wishes,
Dr. Iliri
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Dear Dr. Iliri,
Is it likely that I may require aortic valve surgery, considering my Transesophageal Echocardiogram results?
Sincerely, XXXXXXX
Is it likely that I may require aortic valve surgery, considering my Transesophageal Echocardiogram results?
Sincerely, XXXXXXX
Brief Answer:
My answer as follows:
Detailed Answer:
Dear XXXXXXX
Your actual echographic findings are not an indication for surgery.
Usually surgery is performed when aortic root diameter is above 50mm.
Anyway, if Marfan Syndrome is confirmed surgery may be performed even in values above 45mm.
For the moment, I would recommend you to closely monitor your aorta diameter by periodically scheduled follow up with ultrasound.
If an increase in the diameter is suspected, an angio CT scan of the aorta should be performed.
Hope you will find this answer helpful!
Greetings!
Dr. Iliri
My answer as follows:
Detailed Answer:
Dear XXXXXXX
Your actual echographic findings are not an indication for surgery.
Usually surgery is performed when aortic root diameter is above 50mm.
Anyway, if Marfan Syndrome is confirmed surgery may be performed even in values above 45mm.
For the moment, I would recommend you to closely monitor your aorta diameter by periodically scheduled follow up with ultrasound.
If an increase in the diameter is suspected, an angio CT scan of the aorta should be performed.
Hope you will find this answer helpful!
Greetings!
Dr. Iliri
Note: For further queries related to coronary artery disease and prevention, click here.
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Answered by
Get personalised answers from verified doctor in minutes across 80+ specialties
