Studies trace roots of congenital disease
Pediatric Cardiothoracic Surgery Chief Pirooz Eghtesady, MD, PhD, sees firsthand the challenges of babies born with hypoplastic left heart syndrome (HLHS), a condition in which the left side of the heart is critically underdeveloped and can’t effectively pump blood to the body. HLHS requires the palliative Norwood operation in the first week of life, then two more surgeries later, the Glenn and Fontan procedures, to reshape the heart’s physiology and achieve near-normal oxygen levels in the blood.
Although about 70 percent of babies born today with HLHS are expected to reach adulthood* — the result of better diagnosis and management — Eghtesady’s lab is looking for ways to better detect and possibly even prevent the condition.
“We still don’t know what causes HLHS; many believe it is all genetic,” says Eghtesady, who is the Emerson Chair in Pediatric Cardiothoracic Surgery and treats patients at St. Louis Children’s Hospital. “We are looking at whether a common virus, the Coxsackie virus, potentially plays a part in the development of HLHS. If it turns out the virus does play a role, our goals would be to assess the disease sooner and to develop therapies to prevent the impact of the virus.”
Eghtesady and his colleagues are taking two approaches, in tandem, working in the T1 phase of translational science. One involves using a mouse model to examine whether the Coxsackie virus is involved and to determine which features of the infection cause the disease. The second approach is a human clinical trial in which physicians collect serum from pregnant women and the lab looks for small RNA particles as potential markers for the virus. If the Coxsackie virus is found to contribute to HLHS, the markers would allow pregnant women with the virus to be identified earlier to better plan treatment for their children. A long-term goal would be to develop a vaccine and determine whether simple public health measures could prevent the disease.
Eghtesady has studied HLHS for 14 years.
“Prevention is the ultimate goal since long-term outcomes for children with the disease are still less than ideal; many still go on to need trans-plantation as adults,” says Eghtesady. “There is a lot more we need to learn.”
*Journal of the American College of Cardiology White Paper. Hypoplastic Left Heart Syndrome: Current Considerations and Expectations. JACC January 2012; 59:1 (Supplement):S1–S42.
Lifesaving surgeries reshape hearts and lives
One-year-old Anthony Hanson was born with the left side of his heart critically underdeveloped, a condition known as hypoplastic left heart syndrome (HLHS). Anthony has since undergone two successful, life-saving operations in a series of three to reshape his heart’s physiology.
Anthony underwent the Norwood procedure at St. Louis Children’s Hospital four days after birth and the Glenn procedure four months later; at the age of 2 or 3, he will undergo the Fontan procedure.
His mother, Amber Hanson, described Anthony as “doing wonderfully” at 10 months — walking with assistance, eating regular food and developing normally.
Although the surgeries preserve life, they do not restore optimal circulation, says pediatric cardiothoracic surgery Chief Pirooz Eghtesady, MD, PhD, who performed Anthony’s surgeries. “If we could find out how to prevent HLHS, that would be the ideal solution,” he says.
Highlights
- Pirooz Eghtesady, MD, PhD, led a research team using the “aviation black box principle” to record and examine failures in the pediatric cardiac operating room. During a two-year period, all unanticipated operative events were noted, ranging from those with little potential to cause harm to serious safety events. Early in the study, one surgeon recorded events in freehand on index cards after surgery and placed them into a locked box. Later, the surgical team recorded events in real time. The study, published in the Journal of the American College of Surgeons, found that identifying patterns of failure could lead to process-improvement initiatives and potentially improve outcomes.
- Peter Manning, MD, was one of only four surgeons elected to serve on the Joint Committee on Children with Congenital Heart Defects, a nationwide initiative to improve care for this patient population. Major U.S. children’s hospitals are represented on the committee, composed primarily of cardiologists.
- Eghtesady and coauthors published their experiences with a comprehensive communication system of briefs and reviews to optimize preoperative, intraoperative and postoperative care in the World Journal for Pediatric and Congenital Heart Surgery. The system’s goal is to ensure procedures are carried out in the safest way possible.