Should I Be Concerned About Marfan Syndrome Symptoms?

Should there be a high suspicion of Marfan syndrome?

Hello, Director: Recently, I learned about this genetic disorder and noticed that I have some features of Marfan syndrome.
I would like to ask if I should be highly suspicious of it.
Throughout my life, including military service health examinations and various check-ups, no physician has ever specifically raised any concerns.
Additionally, there have been no cases of sudden cardiac death in either side of my family.
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Skeletal: I am approximately 188 cm tall with a wingspan of about 193 cm.
The ratio is around 1.025, which does not exceed the threshold of 1.05 for suspicion.
However, I was not tall as a child; I started growing rapidly in the third year of junior high, going from around 160 cm to 188 cm by my first year of university.
My current weight is 74 kg, having been as low as 68 kg and as high as 78 kg.
My BMI is within a normal range, but my physique is often described as slender.
My upper body is indeed quite thin with underdeveloped muscles, but my lower body has always been relatively robust, likely due to playing soccer.
My body proportions are normal, and overall, I do not appear particularly "abnormal," though my height is often teased.
My hands are significantly larger than average, which I attributed to my height.
Upon self-examination, I found that I can wrap my thumb and pinky around my wrist, which is consistent with wrist hypermobility.
However, my thumb length does not exceed my palm, and I have trigger finger in my thumb, while the other four fingers are normal, with no abnormal joint hypermobility.
My arches are slightly flat but still within a normal range (I passed the military examination with just a glance).
Additionally, my overall flexibility is quite poor, which seems to contradict the characteristic flexibility associated with Marfan syndrome.
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Eyes: I have been nearsighted since the third grade, with my prescription around 450 degrees in junior high and currently about 600-650 degrees, indicating high myopia, along with astigmatism.
I typically change my glasses every two to three years, with an increase of about 50 degrees each time, but my vision has not deteriorated rapidly.
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Cardiovascular: My heart rate is slightly elevated, usually between 80-90 bpm, and my blood pressure is somewhat high at 130-140 mmHg, but several doctors have said this is due to white coat syndrome.
Last year, I experienced chest tightness and visited a clinic; the doctor said my heart sounded fine after auscultation.
I have been experiencing mild chest tightness frequently, sometimes with a cough-like sensation, and occasionally palpitations that do not last more than 30 seconds.
I sometimes feel slight pain in the upper left chest, but the doctor also indicated that there were no significant issues.
When sitting for long periods studying, I often experience back pain and neck pain, mostly on the left side, but both sides can hurt after sitting for a while.
During my military examination, an ECG showed early repolarization.
My cardiopulmonary function was not great during service, and I ranked low in physical fitness tests, but I eventually met the passing standards after training.
Currently, when running 3000 meters, I do not feel breathless or have an elevated heart rate.
Given that no physician has raised any concerns throughout my life, should I still "self" suspect whether I have Marfan syndrome?

Mr. Wen, 20~29 year old female. Ask Date: 2013/01/12

Dr. He Dongjin reply Cardiology

Hello, based on your description, I also do not believe you are that type of patient.
I am 185 cm tall and have weighed as low as 63 kg without any issues.
Changhua Hospital is concerned about you.

Reply Date: 2013/01/12

More Info

Marfan syndrome is a genetic disorder that affects the body's connective tissue, which provides support to various structures, including the heart, blood vessels, bones, and joints. It is characterized by features such as tall stature, long limbs, and various cardiovascular, skeletal, and ocular abnormalities. Given your concerns and the symptoms you've described, it is understandable to seek clarity on whether you should be concerned about Marfan syndrome.

Key Features of Marfan Syndrome
1. Skeletal Features: Individuals with Marfan syndrome often have a tall and slender build, long arms and legs, and disproportionately long fingers and toes. The arm span-to-height ratio is typically greater than 1.05. You mentioned that your arm span is 193 cm and your height is 188 cm, giving you a ratio of approximately 1.025, which does not exceed the threshold for concern. Additionally, you noted that your body proportions appear normal and that you do not exhibit hypermobility, which is often associated with Marfan syndrome.

2. Cardiovascular Concerns: Marfan syndrome can lead to serious cardiovascular issues, particularly involving the aorta. Symptoms such as chest pain, palpitations, or shortness of breath warrant further investigation. You mentioned experiencing occasional chest discomfort and a slightly elevated heart rate, but your doctors have indicated that your heart appears normal upon examination. It is essential to have regular cardiovascular evaluations, including echocardiograms, to monitor for any potential aortic dilation or other heart-related issues.

3. Ocular Issues: Many individuals with Marfan syndrome experience eye problems, including myopia (nearsightedness) and lens dislocation. You have reported a history of myopia, which is common, but it is crucial to ensure that there are no other ocular complications, such as lens dislocation or retinal detachment.

4. Family History: A family history of Marfan syndrome or related cardiovascular issues can increase the likelihood of having the condition. You mentioned that there are no known cases of sudden cardiac death in your family, which is a positive sign.

Recommendations
Given your current situation, here are some recommendations:
- Consult a Geneticist: If you have concerns about Marfan syndrome, consider consulting a geneticist or a specialist in connective tissue disorders. They can perform a thorough evaluation, including a detailed family history and physical examination, to assess your risk.

- Regular Monitoring: Continue to have regular check-ups with your healthcare provider, particularly focusing on cardiovascular health. An echocardiogram can help assess the size and function of your heart and aorta.

- Eye Examination: Schedule regular eye exams with an ophthalmologist to monitor your vision and check for any signs of lens dislocation or other ocular complications.

- Physical Activity: While it is essential to stay active, be cautious with high-impact sports or activities that may put excessive strain on your heart or joints. Discuss your exercise regimen with your healthcare provider to ensure it is safe.

Conclusion
While you exhibit some features that may be associated with Marfan syndrome, your overall assessment does not strongly suggest that you have the condition, especially given the lack of significant skeletal, cardiovascular, or ocular abnormalities. However, it is always prudent to remain vigilant and proactive about your health. If you have ongoing concerns, seeking a specialist's opinion can provide peace of mind and ensure that you are taking the necessary steps to monitor your health effectively.

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