State-of-the-art Care for Thoracic Insufficiency Syndrome

The Center for Thoracic Insufficiency Syndrome (CTIS) at Children’s Hospital of Philadelphia (CHOP), created in 2009, is the world’s first multidisciplinary center devoted solely to diagnosing and treating thoracic insufficiency syndrome (TIS). TIS is a complex, potentially lethal disease of the spine and rib cage in which the thorax is unable to support normal respiration or lung growth.

Fetal CT of patient at 22 weeks gestation TIS is most often caused by progressive scoliosis and severe rib fusion, or conditions such as Jeune syndrome (spondylocostal dysplasia), Jarcho-Levin syndrome, spinal muscular atrophy (SMA), cerebrocostomandibular syndrome, arthrogryposis and VATER syndrome, as well as congenital diaphragmatic hernia and giant omphalocele.

With a unique multispecialty approach, our team evaluates hundreds of children from around the world, sometimes beginning before birth, and offers complete care from evaluation through long-term follow-up, using the latest technologies and surgeries. Families that come to our Center for Fetal Diagnosis & Treatment after receiving a prenatal diagnosis of a severe abnormality of the spine and rib cage undergo an evaluation that includes low-dose fetal CT. This imaging allows for better visualization of the fetal skeleton. As a result, we are better able to counsel families on their child’s anomaly, what they face in the future, and the treatment options available.

X-ray showing congenital scoliosis in 4-month-old Follow-up appointments after birth allow our team to fine-tune our prognosis and develop a detailed and personalized treatment plan. Care depends on the severity of each child’s condition, how much the lungs are being impacted and other issues like nutritional status. We use a revolutionary technique called dynamic lung MRI (dMRI) to visualize the lungs as they move inside the body. This enables us to see how a spine and rib cage deformity may obstruct both lung motion and expansion with harm to respiration, and helps us decide on the best treatment.

Care includes everything from medical observation to growing rod implantation or vertical expandable prosthetic titanium rib (VEPTR) surgery. The only FDA-approved device for the treatment of TIS, the VEPTR has revolutionized the care of children with spine disorders and restricted lung growth. The goal of VEPTR surgery is to obtain the largest, most symmetrical, most functional thorax by skeletal maturity to ensure adequate lung growth for long-term survival. The device is proven to improve the survival rate of TIS patients and can enable many children to be weaned off oxygen and full-time ventilator support.

The VEPTR device has revolutionized the care of children with spine disorders and restricted lung growth. We perform more than 200 VEPTR procedures and other growth-sparing surgeries each year, and our team has pioneered five new surgeries based on the VEPTR to treat different types of TIS. We typically don’t perform VEPTR surgery until a child is at least 6 months of age, unless circumstances are life threatening.

Because children with TIS can have additional pulmonary disease such as pulmonary hypoplasia, our team collaborates closely with our Hospital’s Pulmonary Hypoplasia Program (PHP). The PHP works to improve pulmonary health, evaluate neurodevelopmental growth, monitor and treat any surgical issues that arise as a child grows, meet nutritional needs, and monitor for late onset hearing loss. No other institution provides this extra level of attention and concern when caring for children with pulmonary hypoplasia. We work together to coordinate care, prioritize treatment, and stage VEPTR implantation and expansions with other surgical procedures in an effort to optimize pulmonary function.

Research

Our CTIS team is currently engaged in research to define the biology and pathomechanics of the diseases that cause TIS, is pioneering new TIS assessment metrics, and is working to develop new medical/surgical treatments and devices.

We recently achieved a breakthrough in quantitative analysis of dMRI, determining precise volume measurements of the lungs due to both rib cage expansion and excursion of the diaphragm muscle on each side of the chest, which we call quantitative dynamic lung MRI (QdMRI). The CTIS was recently named a CHOP Frontier Program for its connection between research breakthroughs and extraordinary clinical care, which resulted in a grant from the Hospital to grow the program.

Contributed by: Robert M. Campbell, MD