Multidisciplinary Care for Complex Congenital Syndromes
NYP Morgan Stanley Children’s Hospital provides the most comprehensive care available for babies with multiple and complex congenital anomalies. “While other centers can handle a single system disease, our multidisciplinary team can address the most challenging patients all in one place, and provide the most advanced circulatory support for those with heart, lung and airway malformations,” says William Middlesworth, MD, director of the Pediatric Extracorporeal Membrane Oxygenation Program.
Congenital Pulmonary/Airway Malformation (CPAM)
"Our pediatric surgeons collaborate with a range of experts to address this diagnosis. Abnormalities of the lung are usually identified on prenatal ultrasound by obstetricians. We then meet with the expectant parents, review the prenatal ultrasound or MRI images, and help parents know what to expect after delivery,” says Dr. Middlesworth. “The health of the baby is monitored by our Maternal Fetal Medicine team during the pregnancy, and by our Neonatology team after birth.”
Most children with CPAM are stable and asymptomatic at birth. Over the course of life however, CPAM puts a child at risk for recurrent lung infections and even malignancy.
“We can remove these lesions thoracoscopically, through three tiny incisions in the baby’s chest, with almost no scarring,” says Dr.Middlesworth. “Typically, we do this when the child is between three and six months of age, working with Steven Rothenberg, MD, an international leader in neonatal minimally invasive thoracic surgery. Usually, children leave the hospital one to three days post-operatively.”
Williams syndrome is associated with developmental disorders and cardiovascular problems. "Children with this condition require highly specialized care,” says Emile Bacha, MD, Chief of the Division of Cardiac, Thoracic & Vascular Surgery at NYP/Columbia, and Director of congenital and pediatric cardiac surgery at NYP Morgan Stanley Children’s Hospital. “These children have a known risk of death related to anesthesia. We are one of only a few centers in the nation with a team member, Anthony Clapcich, MD, who understands the unique needs of these young patients.”
"Children with Williams syndrome suffer from a number of morbidities related to a defect in their Elastin gene, which in its deadliest form can lead to diffuse arteriopathy, a spectrum of obstructive cardiac outflow tract lesions, and severe coronary artery pathology,” says Dr. Clapcich. "EKG and ECHO cannot adequately quantify the perioperative risks for a particular patient. To deliver the highest level of care, we provide comprehensive preoperative evaluation, tight communication between all providers, and a standardized management protocol delivered by our team of specialists.”
Noonan syndrome is associated with developmental delays, short stature, and a range of developmental cardiovascular problems, including pulmonary stenosis, hypertrophic cardiomyopathy (HCM), and septal defects.
“Last week we operated on a baby with Noonan syndrome,” says Dr. Bacha, “We were able to fix the narrowing of vessels (pulmonary stenosis) fairly easily so the heart is no longer an issue and the child’s other problems can be addressed.”
VACTERL affects multiple organs and may produce vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
“This is a serious condition that demands a multidisciplinary approach,” says Dr. Bacha. “Our pediatric cardiac surgeons frequently correct ventricular septal defects (VSD) and atrial septal defects (ASD) in these young patients. We also work in collaboration with pediatric ENT surgeons to alleviate critical problems in the breathing tube to the lungs (the trachea).”
“GI anomalies are part of VACTERL,” says Dr. William Middlesworth, co-founder, with Julie Khlevner, MD, of the Esophageal Atresia Clinic at NYP Children’s Hospital. “We work with over 60 families of children born with esophageal atresia and related disorders. This multidisciplinary program involves gastroenterologists, surgeons, cardiologists, pulmonologists, and speech and swallowing therapists. Our goal is to help these children navigate their childhood in the safest smoothest way.”
Infants with esophageal atresia have a gap in the tube that connects the mouth to the stomach (the esophagus) and often also have a problematic connection between the lower esophagus and the trachea, producing respiratory distress. They usually require surgery soon after birth to separate the respiratory tract from the digestive tract and establish continuity of the esophagus.
“We perform the necessary surgical repair of esophageal atresia and tracheo-esophageal fistula, and then provide ongoing surveillance of our patients,” says Dr. Middlesworth. “These children all have abnormal motility. Because the neural pathways have been interrupted, there is no normal peristalsis and they are disproportionately affected by GERD. Untreated, GERD can lead to premalignant changes in the esophagus. Our goal is to keep them from developing serious problems like this later in life.”
To refer a patient, please call 212-342-8585
Research & Genetics
Each of these congenital syndromes has a genetic component and specialists at NYP Children’s Hospital are exploring this as well. “Among children with the same birth defect, there are often many different genetic causes.” says Wendy Chung, MD, PhD who runs the Chung Lab in the Department of Pediatrics. “We are attempting to unravel them. VACTERL, for example, is a constellation of several different birth defects; the more birth defects a child has, the more likely that cause will be genetic,” says Dr. Chung, “But VACTERL is so complex, we don’t know all the causes yet.”
Working with Drs. Khlevner and Middlesworth, Dr. Chung has made progress identifying four genes that are linked to esophageal atresia. Dr. Chung directs the Congenital Anomalies Research Exploration (CARE) study using whole exome sequencing to explore genes related to gastrointestinal birth defects. Read more here.
NYP Morgan Stanley Children’s Hospital is the largest referral center in New York state and one of the premier centers in the nation for congenital heart disease and other birth anomalies. Learn more about our comprehensive multidisciplinary approach here.