Should I Be Concerned About Marfan Syndrome Symptoms?

Is there a high suspicion of Marfan syndrome?

Recently, I've been experiencing some tightness in my chest and a desire to cough.
After researching online, I discovered that this could be related to a genetic condition, and I find that I match many of the characteristics.
I would like to know if I am being overly anxious or if I should be highly suspicious.

Firstly, there is no relevant medical history in my immediate family, and I have not heard of anyone in my family passing away from heart disease.
No physician has ever suspected anything in the past.
Here are my details:
1.
I am currently 26 years old, have completed my military service, and am undergoing treatment for a gastric ulcer.
I do not have any other significant illnesses.
2.
My height is 188 cm, and I weigh 74.5 kg.
I started growing in height during my third year of junior high and continued until my first year of college; I was considered short as a child.
3.
My arm span is 193 cm, giving a height-to-arm span ratio of 1.025.
Although this is below the 1.05 standard, my arms are relatively long.
4.
My upper body is slender with underdeveloped muscles, while my lower body has been robust since childhood, with decent muscle development (I started playing soccer in junior high).
My proportions are normal overall, and I do not appear unusual, though I often get comments about my height.
5.
My parents have always said I have "duck feet," but a military physical examination indicated that my arches are within a normal range.
However, I do have difficulty walking long distances.
6.
My body feels stiff, which is quite different from the typical flexibility seen in Marfan syndrome.
7.
I have myopia and astigmatism, with a current prescription of -6.00 to -6.50.
I started developing myopia in third grade, and by ninth grade, it was already -4.50, but it has not worsened rapidly overall.
8.
My heart has not been noted for any abnormalities since childhood, but an electrocardiogram during my military examination indicated "early repolarization."
9.
My heart rate is slightly elevated, around 80-90 beats per minute.
My blood pressure is somewhat high, between 130-140, but my doctor suggested this might be due to "white coat syndrome" and late nights.
10.
Occasionally, I experience some pain in the upper left side of my chest, a bit away from the heart's location.
Additionally, prolonged sitting while studying can lead to back and shoulder pain, starting on the left side and then affecting both sides.
11.
My spine does not appear to be curved, and I do not have pectus carinatum or pectus excavatum.
12.
My cardiopulmonary function is not great; I ranked low in physical fitness during military training, but I was still able to meet the military standards after training.
13.
I have features on my buttocks similar to stretch marks.
This is what I have gathered based on my research and the standards I found online.
I am unsure how many other characteristics I may meet that require precise instrument examinations for the eyes and heart.

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

Dr. Jian Yingxiu reply Rare Disease

It is recommended that you first visit an internal medicine or family medicine specialist to determine the cause of your chest discomfort and assess your heart function.
If you have any questions, please consult at one of the genetic counseling centers.
Thank you.

Reply Date: 2013/01/12

More Info

Marfan syndrome is a genetic disorder that affects the connective tissue in the body, leading to a variety of symptoms that can impact the cardiovascular, skeletal, and ocular systems. Given your concerns and the symptoms you've described, it is understandable to seek clarity regarding whether you should be worried about Marfan syndrome or if your concerns are unfounded.

Firstly, let's address the symptoms you mentioned. Marfan syndrome is characterized by several hallmark features, including tall stature, long limbs, and specific skeletal abnormalities. You noted that you are 188 cm tall with an arm span of 193 cm, which does suggest a potential for Marfan syndrome, as individuals with this condition often have a greater arm span compared to their height. However, the arm span-to-height ratio you provided (1.025) is slightly below the commonly referenced threshold of 1.05, which is often used as a guideline for suspicion of Marfan syndrome.

You also mentioned having some wrist features and the ability to wrap your fingers around your wrist, which can be indicative of hypermobility, a common trait in Marfan syndrome. However, you stated that your joints are normal and do not exhibit abnormal bending, which is a positive sign. The absence of significant joint hypermobility may reduce the likelihood of Marfan syndrome.

Your cardiovascular symptoms, such as chest tightness and occasional pain, warrant further investigation, especially considering that Marfan syndrome can lead to serious cardiovascular complications, including aortic dilation or dissection. The fact that your electrocardiogram (ECG) showed "early repolarization" is not uncommon and can be a benign finding, but it is essential to follow up with a healthcare provider to ensure that there are no underlying issues.

Additionally, you mentioned experiencing back and shoulder pain, which could be related to posture or muscle strain rather than a direct symptom of Marfan syndrome. The presence of high blood pressure and a slightly elevated heart rate could also be attributed to anxiety or stress, especially if you are concerned about your health.

Given that you have no family history of Marfan syndrome or related cardiovascular issues, and no previous physician has raised concerns about this condition, it may be less likely that you have Marfan syndrome. However, the symptoms you are experiencing, particularly the chest discomfort, should not be ignored. It is advisable to consult with a healthcare professional, preferably a geneticist or a cardiologist familiar with Marfan syndrome, for a comprehensive evaluation. They may recommend specific tests, such as an echocardiogram to assess your heart and aorta, and possibly genetic testing if warranted.

In summary, while some of your features align with Marfan syndrome, the absence of other critical signs and the lack of family history may suggest that you are not at high risk. However, due to your symptoms, particularly the chest discomfort, it is crucial to seek medical advice to rule out any serious conditions and to address your concerns comprehensively. Early diagnosis and management are key in preventing potential complications, especially related to the cardiovascular system.

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