Currently, there is no specific treatment or cure for MSMDS. Care focuses on preventing complications, monitoring affected organs, and acting in time when problems arise.

Every child or adult needs an individualized care plan because symptoms vary. The key: coordination, follow-up, and hope in medical research.

Listen to the latest medical recommendations in this talk by Dr. Musolino (MGH), an MSMDS specialist:

The information on this page is not a substitute for medical advice. Always discuss it with your healthcare team.

A medical team that works as one

MSMDS affects multiple body systems, so care works best when managed by a multidisciplinary team. A coordinating physician helps keep all specialists aligned and ensures a complete view of the patient’s needs.

Leading teams in Boston and Houston have great experience with MSMDS patients and regularly support hospitals worldwide.

At ACTA2 Alliance, we can help connect local clinicians with these experts when needed.



If MSMDS‑specific specialists aren’t available at local hospitals, it can help if:

• Neurology teams are familiar with transient neurological symptoms, moyamoya or pediatric stroke patterns.
• Cardiology teams have experience with Marfan syndrome or similar connective‑tissue conditions.

This can guide local teams while still encouraging collaboration with experienced centers.

Continuous monitoring for MSMDS

MSMDS can change over time, which is why anticipating issues before they become emergencies is essential.

Regular monitoring helps track the organs most affected and allows clinicians to take preventative steps when needed.

Common follow‑up procedures include:

Annual eye exams 

• Used to evaluate the retinal artery and detect early changes.

Cerebrovascular imaging

• Periodic scans to monitor cerebrovascular disease progression. 

Cardiovascular imaging

• Frequent and noninvasive monitoring with imaging of the heart and vasculature is recommended to assess the progression of cardiovascular disease.

Gastrointestinal Surveillance

• Frequent clinical monitoring is needed to ensure regular bowel movements and assess for interval worsening of dysmotility.

Kidney Monitoring

• Periodic monitoring is recommended due to the risk of recurrent UTIs that may cause pyelonephritis. In the setting of recurrent UTIs,
  the use of prophylactic antibiotics is to be considered.



Blood tests 

• Performed to check for possible side effects of medications.

These routine evaluations are one of the most effective tools for protecting long‑term health in MSMDS patients.

Medications to protect and prevent

Although there are no medications specifically designed to treat MSMDS, treatments are used to control associated risks, for example:

• Losartan and other antihypertensives to control blood pressure and minimize the impact on the body's vasculature.
  
  
• Aspirin or Plavix to promote blood flow and reduce the risk of strokes. Recommended starting treatment for cerebrovascular stenosis.
  
  
• Inhalers or oxygen therapy in patients with greater lung involvement.

Each case is different. Some children require minimal pharmacological support, while others need combinations of several medications. The key lies in personalizing the treatment and adapting it as needed.

Interventions to correct complications

Surgeries are not intended to cure MSDMS, but rather to correct life-threatening complications associated with it. The most frequent complications are:



• Closure of the patent ductus arteriosus or aortopulmonary window: One of the first operations most babies with MSMDS undergo. Recommended as soon as possible to prevent the progression of pulmonary arterial hypertension (PAH).
  
  
• Repair of aneurysms in the aorta or peripheral vessels: To prevent dissections, it is recommended to operate on the aorta when dilation exceeds 4 centimeters.
• 
  Cerebral revascularization: In cases of Transient Ischemic Attacks (TIA) or recurrent strokes, cerebral revascularization can help improve blood flow to the brain. Its benefits and risks are currently being studied, and specific protocols for MSMDS must be followed to minimize complications.
  
  
• Gastrointestinal system interventions: In patients with severe dysmotility, G-Tubes, J-tubes, or ileostomy should be considered to improve nutrition and treat complications.

Anesthesia and sedation: high risk in MSMDS. They require specific protocols and preventive measures such as pre-procedural hydration.
Avoiding anesthesia when possible is always recommended.

Beyond the organs: quality of life

MSMDS affects not only the body, but also quality of life. Supportive therapies are essential to help patients and their families adapt to physical, cognitive, and emotional challenges that may arise.

From physiotherapy, to occupational or speech therapies, to psychological therapies, together they form a comprehensive care approach focused on not only managing medical needs but supporting the whole person. 

Lifestyle and prevention in the MSMDS

The lifestyle of those with MSMDS is also affected due to patients’ compromised vasculature and compensatory mechanisms. Among the most important recommendations are:

• Avoid contact sports: Sports where children might bump into or be hit are not recommended due to the fragility of their veins. A ball hitting them or a blow from the mat can cause a dissection, so it's best to avoid sports like soccer or martial arts.
  
  
• Selective use of children's attractions: Avoid all activities which involve head bobbing and increase the risk of sudden, rapid, or severe neck motion, such as roller coasters, as these increase the risk of strokes and cerebrovascular accidents in children with MSMDS.
   
• Hydration as a preventative measure: The recommended daily water intake is 2 to 3 liters, with extra fluids or Pedialyte when febrile or experiencing increased vomiting, diarrhea, or sweating to prevent hypovolemic states.
  
  
• Use of polarized lenses, photochromic glasses/sunglasses or with UV filters against photophobia. Bifocal glasses or progressive lenses to accommodate any deficit caused by ciliary muscle dysfunction.

From a young age, children should be taught certain guidelines when participating in physical activity such as avoiding dehydration, taking frequent breaks for rest if they have pulmonary/breathing limitations or risk of injury due to fatigue. 

Hope in research

While current treatments focus on managing symptoms and preventing complications, the real hope lies in research. Scientists in various countries are working on:

• Specific medications that better protect the vasculature.
  
  
• Gene therapies and gene editing (CRISPR-Cas) which seek to correct the mutation in ACTA2.
  
  
• Trials with cellular and metabolic supplements that could improve the energy and endurance of smooth muscle.
  
  

Progress in MSMDS research takes time, but every step forward matters. What once felt out of reach is becoming possible through scientific work, shared knowledge, and a committed community working together to change outcomes.

Today, care for MSMDS still depends on prevention, close monitoring, and the management of complications. But that is not where the story should end. With more research and stronger support, we can help bring earlier diagnoses, better care, and real treatment options closer for every person affected.

Main CTA: Accelerate the arrival of treatments for MSMDS

https://www.zeffy.com/en-US/donation-form/6944a133-de97-4680-8675-ad6847c2d369

Literature

1. Clinical Guidelines & Recommendations in MSMDS, Dr. Patricia Musolino, MD (MGH). Presented at the 2025 MSMDS Conference. 2025.

https://youtu.be/Gz-sHg-kFRQ?si=HuZKa-PTEPMJdqAp&t=899 

2. Latest clinical recommendations on MSMDS imaging, Dr. Diana Tambala, MD (MGH). Presented at the 2025 MSMDS Conference. 2025.

https://youtu.be/Gz-sHg-kFRQ?si=gJGK9KUb_Wv5H306&t=1851

3. Surgical Considerations of MSMDS, Dr. Alan Goldstein, MD (MGH). Presented at the 2025 MSMDS Conference. 2025.

https://www.youtube.com/watch?v=u-o3ofYxN0w&list=PL9i5mdmWtAp4VhC76CV1OJ2WJNtnNXME7&index=23

4. Anesthesia considerations in MSMDS, Dr. Alan Goldstein, MD (MGH). Presented at the 2025 MSMDS Conference. 2025.

https://youtu.be/u-o3ofYxN0w?si=S5XFTOd2fzVBeKvB&t=1126