Clinical Focus: Congenital Cardiac Anomalies: In Utero Diagnosis and Post-Natal Management

For Austin Rakers and many children with congenital heart disease, cardiac conditions can be identified early in gestation.

A routine ultrasound appointment for Misty and Alex, a Quincy, Ill., couple expecting their first baby, resulted in a swift referral to the Fetal Care Center and an appointment with Caroline Lee, MD, director of Fetal Cardiology at The St. Louis Children’s and Washington University Heart Center. Using fetal echocardiography, Dr. Lee confirmed a double inlet left ventricle diagnosis.

Dr. Lee followed the pregnancy with monthly fetal echocardiograms and parent education. Additionally, Misty and Alex were supported by Fetal Care Center clinicians, including specialists from maternal fetal medicine, neonatology, cardiac surgery and nurse coordination. “The doctors here made us feel like we were the only family they were focused on,” said Misty. “All the specialists worked together to share their opinions about Austin’s care, and we put all our trust in them. Everyone was very clear about my delivery and the surgeries Austin would need.”

Double Inlet Left Ventricle Diagnosis

In a double inlet left ventricle diagnosis, a child is born with only one functioning pumping chamber in the heart, the left ventricle. The right ventricle is frequently small and both the mitral and tricuspid valves open into the enlarged left ventricle. In most cases, the positions of the pulmonary artery and aorta and the left and right ventricles are reversed compared to normal anatomy. Atrial and ventricular septal defects are common. This condition is seen in about 5 - 10 of 100,000 live births and commonly occurs with transposition of the great vessels, in which the aorta arises from the small right ventricle and the pulmonary artery arises from the left ventricle. Patients often also have other heart problems, such as coarctation of the aorta, pulmonary atresia or pulmonary valve stenosis.

Due to his condition, Austin was born at Barnes-Jewish Hospital. After he was stabilized, the delivery team took Austin to the Newborn ICU at St. Louis Children’s Hospital. Because of the in utero diagnosis of double inlet left ventricle and severe hypoplasia of the aorta and aortic arch, Austin was immediately placed on prostaglandin E1 infusion to maintain ductus arteriosus patency and ensure adequate systemic blood flow. Because Austin was born with only one functioning ventricle, he was later moved to the Cardiac ICU. In the days that led to Austin’s initial surgery to improve his blood circulation through his body and into the lungs, Pirooz Eghtesady, MD, PhD, cardiac surgeon and co-director of The Heart Center, prepared a surgical “pre-brief,” to review intra-operative events and familiarize the entire cardiac team about Austin’s case, which included critical details about the pregnancy and delivery.

“Everyone on Austin’s cardiac team was extremely pleased that a baby in his condition did so well after the exceptionally complex procedure,” said Dr. Eghtesady, who performed the Norwood surgical procedure six days following Austin’s birth. During the seven-hour surgery, Dr. Eghtesady called Austin’s parents with hourly updates from the OR. In this first-stage surgery, Dr. Eghtesady enlarged the very small aortic arch using a patch. He created a “neoaorta” by transecting the pulmonary artery, oversewing the distal end, and connecting the proximal end side-by-side to the small aorta so that outflow from both vessels and ventricles was connected to the reconstructed arch. An aortopulmonary shunt (modified Blalock-Taussig shunt from innominate artery to right pulmonary artery) was placed to provide pulmonary blood flow.

Today, Austin is followed by physicians at home as well as by Drs. Lee and Eghtesady as he will require the Glenn and Fontan surgeries. The Glenn procedure, performed at age 3-6 months, will replace the shunt with a connection from the superior vena cava to the right pulmonary artery. The Fontan procedure is usually performed around 2 ½ to 3 years of age and greatly improves blood oxygenation by directing blood from the inferior vena cava to the right pulmonary artery.

Referrals for Fetal Echocardiography

“Fetal heart defects are the most common referral to the Fetal Care Center,” said Dr. Lee. “Fetal echocardiography is performed five days a week, and follow-up testing is scheduled as needed throughout pregnancy. We’ve found that expectant parents want to fully understand all they can about their baby’s heart defect and anticipated outcome, development and surgeries.”

Expectant mothers are typically referred for a suspected fetal heart abnormality following an anatomical survey, or when a parent has a congenital heart defect history or a prior child with a heart defect.

Additionally, patients are seen following a fetal diagnosis of conditions with a high incidence of cardiac abnormalities, such as diaphragmatic hernia, omphalocele and trisomy 21. Fetal arrhythmias and maternal diabetes are also commonly referred.

The Fetal Care Center is the only comprehensive center in the Midwest that offers a fully integrated patient experience in advanced fetal diagnostics, fetal surgical interventions before and after birth, and newborn medicine on one medical campus. The center is a unique collaboration among Barnes-Jewish Hospital, St. Louis Children’s Hospital and Washington University School of Medicine. During their visits to the Fetal Heart Center, expectant mothers can meet with a fetal cardiologist, neonatologist, cardio-thoracic surgeon, social worker and other specialists dedicated and uniquely qualified to provide this specialized care. A nurse coordinator serves as the personal resource for patients and the referring physician office staff.

Congenital Heart Defect and Delivery

For many heart defects, delivery at Barnes-Jewish Hospital is recommended to ensure a more stable environment for the baby, as immediate access to medical intervention and multiple subspecialists is available. Significant congenital heart defects that require Barnes-Jewish Hospital delivery include:

• single ventricle lesions and/or ductal dependent lesions
• hypoplastic left heart syndrome
• pulmonary atresia/ventricular septal defect
• pulmonary atresia/intact ventricular septum
• tricuspid atresia
• critical aortic stenosis
• coarctation of the aorta
• heterotaxy syndrome with complex single ventricle lesions
• unbalanced atrioventricular canal defects

Delivery also is recommended at Barnes-Jewish Hospital for some less severe conditions, such as Tetralogy of Fallot, complete atrioventricular canal defect, Ebstein's anomaly and fetal arrhythmia.

For more information or to refer a patient to the Fetal Care Center, call Children’s Direct at 800.678.HELP (4357).