Dr. Diego Porras
*Alumnus, 2007-2011, Pediatric Cardiology, and Interventional Pediatric Cardiology

Synthesizing the body of medical knowledge on a rare disease is inherently challenging. When that disease affects multiple body systems and is treated by multiple specialties, the problem is further exacerbated. Mid-aortic syndrome (MAS) is a rare disease associated with several syndromes as well as significant morbidity. Characterized by a narrowing of the mid-aorta (from the proximal thoracic aorta to the bifurcation), MAS causes severe, refractory systemic hypertension and can result in considerable end-organ damage (brain, heart, intestines and limbs). Untreated, MAS drastically shortens life expectancy.

Due to its extreme rarity, patients with MAS are usually diagnosed late and are then referred to a specialist based on their primary doctor’s preferences. The result is multiple specialists end up managing patients with MAS based on their personal expertise and experience, which by definition is limited for a rare disease.

“I reviewed Boston Children’s experience with MAS over the last 30 years,” explains Dr. Diego Porras, “and found that management was far from standardized.  To build a comprehensive knowledge base, we needed to have an ongoing dialogue between specialties and we needed to benefit from each other’s expertise.”

Dr. Porras helped convene a diverse group of providers at Boston Children’s who treat MAS patients, including representatives from Cardiology, Interventional Cardiology, Nephrology, general pediatric surgery, Interventional Radiology, genetics and Rheumatology. The group meets twice a month to share knowledge and experience, review ongoing cases, and jointly devise a management plan for each patient. Following a model similar to the one used in the Cardiovascular Program, each MAS patient is assigned a primary care provider who helps coordinate her care among the multiple sub-specialists. The primary provider is responsible for making decisions based on input from the group. This interdisciplinary care structure facilitates the creation and implementation of management plans that draw from each member’s expertise.

Discussion is not limited to BCH patients; since many MAS patients live far away and need long-term care, a good amount of time is spent advising physicians and hospitals around the world on how to care for their unique cases. On average, the group receives 2-3 new patient referrals every month through their website.

Advances in trans-catheter and surgical interventions at BCH have made MAS a much more manageable condition. One new surgical technique (Tissue Expander Stimulated Lengthening of Arteries, or TESLA) stretches a normal section of aorta with a tissue expander that is surgically implanted behind the aorta and periodically expanded via saline injections over a period of weeks to months. This results in a longer segment of aorta that can then be resected and used as an autograft made of the patient’s organic material. Unlike synthetic tube grafts, the autograft grows with the patient and does not necessitate frequent re-operation.

Thanks to the MAS group and their efforts, what began as an idea to promote intra-hospital collaboration around a rare disease has become a beacon of hope for MAS patients and physicians worldwide.