May 19, 2023
Mayo Clinic Children's Center goes beyond a multidisciplinary approach to offer coordinated appointments and consultation among specialists for children with vascular malformations and vascular medicine concerns through two specialized clinics: Mayo Clinic's Vascular Malformation Specialty Clinic and the pediatric thoracic aorta and vascular medicine clinic. These clinics provide specialized care for complex and rare diseases and create a multifaceted treatment plan in coordination with a patient's local physician.
Vascular Malformation Specialty Clinic
At Mayo Clinic's Vascular Malformation Specialty Clinic, specialists have experience with a wide range of vascular malformations including capillary malformations, venous malformations, lymphatic malformations, arteriovenous malformations, kaposiform hemangioendothelioma, kaposiform lymphangiomatosis, combined malformations, and rare syndromes such as Sturge-Weber syndrome, Klippel-Trenaunay syndrome and CLOVES syndrome, which stands for congenital lipomatous overgrowth, vascular malformations, epidermal nevi and scoliosis-skeletal-spinal anomalies.
"Our specialists meet in person to see a patient, to discuss the patient's imaging and evaluations and to determine a plan of care," says Megha M. Tollefson, M.D., a pediatric dermatologist at Mayo Clinic Children's Center in Rochester, Minnesota, and director of the Vascular Malformation Specialty Clinic. "These vascular malformation conditions involve a lot of nuance and require in-depth, comprehensive care. Our radiology team is able to offer state-of-the-art imaging techniques and modalities in helping our team make challenging and complex diagnoses and treatment plans."
In addition to having specialists in dermatology and interventional radiology, including neurointerventional radiology, Mayo Clinic's Vascular Malformation Specialty Clinic has pediatric orthopedic, vascular and plastic surgeons, as well as neurosurgeons and specialists in ear, nose and throat surgery. The team also includes specialists in pediatric hematology and oncology, physical medicine and rehabilitation, pain, lymphedema, and medical genetics. Diagnostic radiologists in the Vascular Anomalies Clinic have subspecialties in neurological, musculoskeletal and ultrasound radiology.
"Depending on the malformation type and location, it can require entirely different sets of specialists, appointments and procedures," Dr. Tollefson says. "For example, one of our patients with CLOVES syndrome benefitted from input from a variety of specialties including medical genetics, radiology, pediatric surgery and gastroenterology."
CLOVES syndrome is a rare disorder characterized by tissue overgrowth and complex vascular anomalies. CLOVES syndrome is a nonhereditary disorder caused by a somatic mutation in a gene known as PIK3CA. Mutations in this growth regulatory gene result in two sets of cells within the body (mosaic status): those with the mutation and those without the mutation. The mutated cells give rise to the abnormal tissue. This syndrome can affect soft tissue, blood vessels, bone and internal organs. The manifestations, typically present at birth, can vary widely, ranging from mild to severe anomalies.
"For our patient with CLOVES syndrome, we were able to coordinate consultations along with diagnostic imaging and necessary additional testing," Dr. Tollefson adds. "Our experts developed a plan, and the patient received multiple modalities of treatment over several years. Currently, the patient is thriving in school without the need for medication."
Pediatric thoracic aorta and vascular medicine clinic
The pediatric thoracic aorta and vascular medicine clinic is focused on unifying vascular cardiology and cardiovascular genetics. It provides care for children and young adults with genetically mediated disorders, including rare and undiagnosed conditions that affect the aorta and other vessels in the body.
By leveraging cutting-edge technology in our state-of-the-art vascular and echocardiography labs, and by incorporating advanced imaging strategies, Mayo Clinic offers comprehensive expertise. The Mayo Clinic Children's Center and the adult vascular centers work in synergy to provide the necessary support to manage even the most complex and rare medical conditions.
"This clinic helps bridge the gap for patients with rare and complex vascular conditions," says Talha Niaz, M.B.B.S., a pediatric cardiologist and cardiovascular geneticist at Mayo Clinic's Children Center in Rochester, Minnesota, who is leading the pediatric thoracic aorta and vascular medicine clinic. "With our specialized knowledge, and by collaborating with other specialists across Mayo Clinic, we are uniquely equipped to help patients whether they have not yet received an accurate diagnosis or they need complex care for their rare conditions."
Patients treated in the pediatric thoracic aorta and vascular medicine clinic benefit from Mayo Clinic's broad range of experience and expertise that includes comprehensive diagnosis and treatment of connective tissue and hereditary thoracic aortic diseases such as Marfan syndrome, Loeys-Dietz syndrome, or familial thoracic aortic aneurysm and dissection; collagen disorders such as vascular Ehlers-Danlos syndrome (vEDS); blood vessel aneurysms and dissections; blood clots (thrombosis); nutcracker syndrome; peripheral arterial disease; and thoracic outlet syndrome.
"In addition to needing multidisciplinary treatment plans, management of these conditions can require forethought for their unique circumstances," says Dr. Niaz. "In treating patients with vEDS, for example, our team does annual risk assessment and creates comprehensive contingency plans for patients if they need to go to the emergency room (ER)."
People who have vEDS, which is associated with variants in the COL3A1 gene that regulates formation of collagen 3, are at risk of often fatal ruptures of major blood vessels as well as hollow organs, such as the uterus and intestines.
"Patients with vEDS can experience dissection anywhere in their bodies, so identifying their potential risk for ER physicians and outlining steps to help diagnose and manage their care is essential in successfully dealing with potential emergency situations," continues Dr. Niaz. "Our multidisciplinary team provides patients with letters to present to the ER physicians. The letters include vital information on their condition along with steps for the medical team to follow."
An accurate diagnosis, the first time
For patients in both clinics, pinpointing a diagnosis is crucial to determining treatment — and collaborating across specialties helps ensure that patients get the answers they need. "Our imaging expertise, collaborative approach and advances in genetic evaluation allow us to make accurate diagnoses. The various diagnoses have very different implications for patients' prognoses and the type of treatment needed," says Dr. Tollefson. "Our multidisciplinary team brings together experts who provide an integrated care plan for each patient's needs."
Dr. Niaz adds, "Our patients have rare diagnoses and are typically scattered across the globe. Many physicians don't have the opportunity to manage treatment for patients like this over an extended period of time. Mayo Clinic brings together highly specialized experts, collaborating across our clinical practice, who can manage the unique needs of these patients and provide them with a path forward."
With a diagnosis and a multimodal, individualized treatment plan in place, our specialists help coordinate the specialized care at Mayo Clinic Children's Center in addition to the necessary follow-up care with a patient's local physician. "Rare and complex diseases can have a profound impact on a child's life," Dr. Tollefson says. "Our multidisciplinary team can offer treatment strategies and coordination of care with a patient's local physician to improve quality of life."
For more information
Refer a patient to Mayo Clinic.