Concerns About Marfan Syndrome: Growth, Surgery, and Treatment Updates

Concerns about Marfan syndrome?

Dear Dr.
Hou,
My daughter is 12 years old and is about to enter the first year of junior high school.
She is 168 cm tall and weighs 46 kg.
Approximately two years ago, she was diagnosed with suspected Marfan syndrome.
Her current symptoms include scoliosis with an S-shaped curve measuring 49 degrees in the upper spine and 43 degrees in the lower spine.
The diameter of her aortic root has increased from 2 cm to 2.5 cm over the past year and from 2.5 cm to 2.85 cm in the last six months.
I have a few questions I would like to ask you:
1.
How much taller is she expected to grow? The doctor previously used hormonal treatment to delay her growth; I am unsure if it has been effective.
2.
Her scoliosis has reached a critical point requiring surgical intervention, exceeding 40 degrees.
She is currently undergoing bracing and physical therapy, but I am concerned about the effectiveness.
Would you recommend surgical correction? How is the current technology in this area?
3.
Should we be more cautious about the rate of aortic root dilation? (The cardiologist advised me to follow up every six months.)
4.
I saw information online about a drug called losartan, which was mentioned a year ago and seems to still be in the experimental stage.
As of today, does it offer any further benefits for Marfan syndrome? Are there any promising developments regarding medications abroad in this area?
Thank you for taking the time to respond amidst your busy schedule.
I appreciate your help!
Sincerely,
Max Lee

max lee, 40~49 year old female. Ask Date: 2007/08/28

Dr. Hou Jiawei reply Rare Disease

The treatment for Marfan syndrome primarily focuses on symptomatic management.
Utilizing low-dose estrogen can promote early closure of the growth plates, thereby slowing growth and reducing the severity of scoliosis.
Additionally, bone density should be assessed to determine appropriate treatment options.
For patients with mitral valve prolapse or aortic root dilation, beta-blockers are currently administered to alleviate palpitations and shortness of breath, as well as to reduce the risk of aortic dissection.
Surgical intervention is indicated when the aortic root dilation reaches 5 to 5.5 centimeters or if there is a family history of aortic dissection, to prevent the risk of aortic dissection.
Losartan (Cozaar), which blocks the cardiovascular effects of angiotensin II, is clinically used for hypertension and heart failure, and has been proven to be a safe and effective antihypertensive medication in the United States.
However, more clinical trial results are needed to validate the treatment of Marfan syndrome, especially in children.

Reply Date: 2007/08/28

More Info

Marfan syndrome is a genetic disorder that affects connective tissue, leading to a variety of symptoms that can impact multiple systems in the body, including the skeletal, cardiovascular, and ocular systems. Given the concerns you have regarding your daughter, it’s important to address each of your questions with a comprehensive understanding of the condition and its management.

1. Growth Potential: The growth potential of a child diagnosed with Marfan syndrome can vary significantly. Typically, growth plates close around the age of 16 to 18 in females, but this can be influenced by various factors, including hormonal treatments. The use of hormonal therapy to delay growth can be effective, but its success largely depends on the timing and dosage. If the treatment was initiated before significant growth spurts, it may help in managing height. However, it’s crucial to have regular follow-ups with an endocrinologist to monitor growth patterns and adjust treatment as necessary.

2. Scoliosis and Surgical Intervention: Your daughter’s scoliosis, with a curvature exceeding 40 degrees, is indeed a concern. Non-surgical interventions like bracing and physical therapy can be effective, especially in growing children. However, if the curvature progresses or causes significant pain or functional impairment, surgical correction may be recommended. Current surgical techniques, such as spinal fusion, have advanced significantly and can provide substantial improvement in spinal alignment and quality of life. A consultation with a pediatric orthopedic surgeon who specializes in scoliosis is advisable to discuss the potential benefits and risks of surgery.

3. Monitoring Aortic Dilation: The rate of aortic dilation in Marfan syndrome is a critical aspect of management. Regular echocardiograms are essential to monitor the size of the aorta. While your cardiologist has recommended semi-annual follow-ups, it’s important to remain vigilant, especially if there are changes in symptoms or if the dilation rate increases. If the aortic root reaches 5 cm or more, surgical intervention may be necessary to prevent complications such as aortic dissection. Keeping an open line of communication with your cardiologist and ensuring that any changes in your daughter’s condition are promptly addressed is vital.

4. Losartan and Other Treatments: Losartan, an angiotensin II receptor blocker, has shown promise in clinical studies for patients with Marfan syndrome, particularly in reducing aortic dilation. While it is primarily used for hypertension, its potential benefits in Marfan patients are being explored. Ongoing clinical trials are assessing its efficacy and safety in this context. It’s important to discuss with your healthcare provider whether this medication is appropriate for your daughter and to stay updated on new research findings. Other treatments, including beta-blockers, are commonly used to manage cardiovascular risks associated with Marfan syndrome.

In summary, managing Marfan syndrome requires a multidisciplinary approach involving pediatricians, cardiologists, orthopedic surgeons, and endocrinologists. Regular monitoring and proactive management of symptoms are key to improving outcomes and quality of life. It’s understandable to have concerns, but with appropriate medical care and support, many individuals with Marfan syndrome lead fulfilling lives. Always feel free to reach out to your healthcare team with any questions or concerns as they arise.

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