Catching a heart defect in utero: Marco’s story

Meagan and Dante Cipulli quickly settled on a name when they discovered their third baby would be a boy: Marco, which meant God of War.

And that name would become especially apt a few weeks later. When Meagan was about six months pregnant, the couple learned their baby had a congenital heart defect called tetralogy of Fallot and would need open-heart surgery soon after birth.

“Knowing my unborn baby would need open-heart surgery after birth was the scariest experience of my life,” Meagan says. “After receiving his diagnosis, we realized we couldn’t have picked a better name for our little heart warrior.”

Finding heart defects before birth

When a second ultrasound by a perinatologist confirmed that baby Marco’s aorta was enlarged, Meagan was referred to CHOC pediatric cardiologist Dr. Nita Doshi.

Dr. Doshi performed a fetal echocardiogram, which uses sound waves to create a picture of an unborn baby’s heart.

The evaluation confirmed that Marco had tetralogy of Fallot, a heart condition comprised of four related defects that cause inadequate amounts of blood to reach the lungs for oxygen, thus sending oxygen-deficient blood throughout the body.

“I was in complete shock,” Meagan says. “As a nurse, I knew exactly what tetralogy of Fallot was and that he would need open-heart surgery.”

Planning began immediately. With the help of Dr. Doshi, the Cipullis began researching hospitals, cardiologists and surgeons who could care for Marco when the time came.

CHOC emerged as the clear choice, and the Cipullis opted for Dr. Doshi to continue as Marco’s cardiologist and Dr. Richard Gates to perform the corrective surgery.

Organizing pre- post-birth care

Meagan moved her obstetric care to a physician aligned with St. Joseph Hospital so Marco could be transferred next door to CHOC’s neonatal intensive care unit (NICU) immediately upon birth.

During a perinatal conference, the Cipullis met with the obstetrical team at St. Joseph and CHOC’s neonatal team to discuss the baby’s birth and care.

“That allowed me to have all my questions answered and gave me peace of mind that all those related to our care were on the same page,” Meagan said. “I knew that I had made the right choice after meeting with the care team.”

The remaining weeks of Meagan’s pregnancy were an emotional roller coaster. They couple prepared their older sons as best they could for what was to come with their younger brother.

And while the family was scared to not understand the full extent of their baby’s medical needs, they felt assured knowing a plan was in place.

“Each day of my pregnancy after diagnosis was filled with worry and fear, but also gratitude and hope knowing we were fortunate enough to have Marco’s diagnosis in utero and we were able to plan for his care after birth,” Meagan says.

The Cipullis didn’t have to wait long for Marco. On May 16, 2017, Marco was born five weeks ahead of schedule. After a brief rest on his mother’s chest, Marco was moved to CHOC’s NICU, where he stayed for five days.

Surgery day

Marco was back at CHOC about three months later for surgery with Dr. Gates to repair his heart defects.

 

“At first it all seemed so surreal and somehow I was able to keep it all together until the moment they wheeled Marco into the operating room,” Meagan says. “While he was lying in the crib, he looked over his shoulder and gave me and his dad this smile and look like, ‘I got this, guys, don’t worry.’ I don’t think I have ever cried harder in my life.”

The surgery went well, and Marco spent five days recovering in CHOC’s cardiovascular intensive care unit.

Today, Marco is happy and healthy 9-month-old who loves to smile and laugh. He sees Dr. Doshi every four months for follow-up appointments, but otherwise requires no additional medication or therapy.

Many babies with tetralogy of Fallot will require additional surgeries as they age, but the Cipullis are hopeful that Marco’s early interventional measures will last for many years.

Feeling positive

Meantime, the Cipullis are enjoying every minute with their three boys, and are grateful for the care they received at CHOC after catching Marco’s condition early.

Meagan recommends that other families who find themselves in similar situations be vocal about their fears, but also stay positive about their baby’s future.

“My husband and I each night would talk about what we were feeling that day,” she recalls. “At first, it was more about our fears and worries, but eventually each day we would talk more about our excitement and joy to meet our little warrior.”

Learn more about CHOC’s fetal cardiology services.

CHOC-HOSTED INAUGURAL PACIFIC COAST FETAL CARDIOLOGY SYMPOSIUM PROVIDES VITAL EDUCATION

CHOC Children’s leads the way in fetal cardiology and fetal echocardiography, and recently shared its expertise at its first “Pacific Coast Fetal Cardiology 2017: An Interactive and Case-based Education Symposium.” Held at the Marriott Hotel, Newport Beach, the conference brought together nurses, sonographers, physicians, trainees and health care professionals from 50 different organizations across the country.

Led by Dr. Wyman Lai, medical director of echocardiography and co-medical director of the CHOC Children’s Heart Institute, and Anita Moon-Grady, from University of California, San Francisco, the event provided vital education on how to detect serious heart defects during pregnancy, and how to discern when to refer to a fetal cardiology specialist for further testing, counseling and intervention. Additionally, education was provided on  the current International Society for Ultrasound in Obstetrics and Gynecology (ISUOG) and American Society of Echocardiography (ASE) guidelines, including: how to improve screening efficacy; acquire the ability to rule out or assess for selected complex anomalies during fetal cardiology screening; diagnose obstructive left heart lesions and counsel families on treatment options and prognoses; use key features reviewed to diagnose heterotaxy syndrome; counsel patients on the benefits and limitations of early fetal echocardiography; and diagnose tetralogy of Fallot, its variants and when to refer to a pediatric cardiologist for treatment.

More than a dozen cases were presented by various speakers and featured obstructive left heart lesions, Heterotaxy syndromes, early fetal echocardiography and variants of tetralogy of Fallot. Keynote speakers included Dr. Wayne Tworetzky from Boston Children’s and Dr. Lynn Simpson from Columbia.

Dr. Neda Zadeh, CHOC geneticist, presented, “Understanding Fetal Screening for Chromosomal Abnormalities.” No screening test can detect all birth defects, she explained; however, diagnostic testing is the “gold standard”for prenatal diagnosis of a chromosomal abnormality. CHOC pediatric cardiologist, Dr. Pierangelo Renella, provided an in-depth clinical presentation, “Coarctation of the Aorta versus Interrupted Aortic Arch.”

A major highlight of the conference was a live demonstration of a fetal echocardiogram performed by Dr. Wyman Lai on a pregnant patient with a fetus who presented with tetralogy of Fallot. As he demonstrated the procedure on the large screen, attendees were enthralled with Dr. Lai’s presentation and diagnosis.

Learn more about CHOC’s Heart Institute and fetal echocardiography program

Find upcoming conferences and events: CHOC’s Continuing Medical Education

Inaugural CHOC Conference on Fetal Heart Disease Detection and Management, April 28-29

Early fetal detection, obstructive left heart lesions, variants of Tetralogy of Fallot, and Heterotaxy syndrome are just some of the topics featured at the upcoming CHOC Children’s conference, Pacific Coast Fetal Cardiology 2017: An Interactive and Case-Based Educational Symposium, held on April 28-29, 2017 at the Newport Beach Marriott Hotel and Spa.

“Our conference will focus on the use of cases to convey important points on fetal heart disease detection and management,” says conference co-chair Dr. Wyman Lai, medical director, echochardiography, and co-medical director, CHOC Heart Institute.

Open to obstetricians, radiologists, maternal fetal medicine specialists, pediatric cardiologists and sonographers, the anticipated event will cover how to detect serious heart defects during pregnancy, and how to discern when to refer to a fetal cardiology specialist. Keynote speakers, Dr. Wayne Tworetzky from Boston Children’s and Dr. Lynn Simpson from Columbia University Medical Center, will be among the nationally recognized experts attending.

The conference is sponsored in part by the UCSF Benioff Children’s Hospitals and several ultrasound companies. Additionally, two parent support groups will be present as exhibitors. The groups have a mission to improve early fetal cardiac detection, which allows for 1) time for appropriate family counseling, 2) better planning of care for delivery location and method, and 3) better coordination of care between the multiple subspecialties involved.

“Studies have shown improved outcomes for cardiac patients who are diagnosed before birth compared to those diagnosed after birth. This highlights the importance of improving the fetal detection rate for congenital heart disease in our communities,” Dr. Lai adds.

After the conference participants will be able to:

  • Use suggested best practices for fetal cardiology screening
  • Apply the current International Society for Ultrasound in Obstetrics and Gynecology (ISUOG) and American Society of Echocardiography (ASE) guidelines to improve screening efficacy.
  • Rule out or assess for selected complex anomalies during fetal cardiology screening.
  • Diagnose obstructive left heart lesions and counsel families on treatment options and prognoses.
  • Use key featured reviewed to diagnose Heterotaxy syndrome.
  • Counsel patients on the benefits and limitations of early fetal echocardiography.
  • Diagnose Tetralogy of Fallot, its variants and refer for treatment.

Participants are invited to submit an interesting case, by March 14 at https://fetalcardiology.eventgrid.com/, in one or more of the following clinical areas:

  • Obstructive left heart lesions
  • Heterotaxy syndrome
  • Early fetal echochardiography
  • Variants of Tetralogy of Fallot

To register for Pacific Coast Fetal Cardiology 2017: An Interactive and Case-Based Educational Symposium, visit CHOC’s website.

In the Spotlight: Wyman Lai, M.D.

A nationally-recognized pediatric cardiologist with expertise in fetal cardiology and non-invasive imaging for heart disease in fetuses and children has joined CHOC Children’s. Dr. Wyman Lai is the new medical director of echocardiography at CHOC; co-medical director of the CHOC Heart Institute, and assistant division chief of cardiology with CHOC Children’s Specialists.

“CHOC has a fabulous mix of state-of-the-art care, community presence, and academic achievement. I thoroughly enjoy working with my colleagues, who strive to provide the very best care available. The administrative staff at CHOC has also been extremely supportive. Together we are building a pediatric service that rivals any in the region, and we have our sights on even higher goals,” Dr. Lai says.

Dr. Lai’s passion for helping others inspired him to become a doctor. His original plan was to go into academic primary care pediatrics, and he majored in maternal and child health for his Master of Public Health degree. Early in his training, he switched to pediatric cardiology after becoming fascinated with what the pediatric cardiologists were doing.

“In pediatric cardiology, we are able to make a profound difference in the lives of our patients. With our surgical colleagues, we have made incredible advances in life-saving therapies over the past five decades,” Dr. Lai says. “The heart is an amazingly complex organ; it starts off as a simple tube, and it’s a wonder that it ever develops normally into a four-chambered pumping organ that delivers oxygen efficiently throughout our body.”

Dr. Lai attended medical school at the Alpert Medical School of Brown University. He completed his residency at UCLA Ronald Reagan Medical Center, followed by a pediatric cardiology fellowship at UCLA Medical Center, and later, a pediatric cardiology MRI fellowship at Boston Children’s Hospital.

Since joining CHOC, Dr. Lai has been treating patients with complex congenital heart disease. He is also treating patients with the full spectrum of heart conditions, from heart murmurs to chest pain and syncope.

Dr. Lai’s approach towards his patients and their families is to treat them like family members.

“As with all families, however, not everyone is the same,” he explains. “Some patients and parents want more medical information and some less. Some want to be very involved in the decision-making process and some not so much. My practice is to provide them with enough information and support, so they feel comfortable with the decisions they are making.”

Along with Drs. Nita Doshi and Pierangelo Renella, Dr. Lai is helping to build a great program in fetal cardiology at CHOC. He is also working with Dr. Renella to grow the congenital cardiac MRI program, including the use in non-invasive imaging for creating 3D heart models.

“We recently used a 3D cardiac MRI dataset to print several heart models that were used to assist in the planning of care for a child with complex congenital heart disease. Another area of innovation is our purchase of new patient monitoring software in the cardiovascular ICU that will help us to identify patients at risk for acute deterioration before it happens,” Dr. Lai says.

In April, Dr. Lai will serve as co-program director for an inaugural conference hosted by CHOC, Pacific Coast Fetal Cardiology 2017: An Interactive and Case-Based Educational Symposium, in Newport Beach. The conference supports CHOC’s efforts to improve the success of fetal cardiac screening in the region, he says.

Dr. Lai is a prolific author who has published numerous journal articles and chapters, and has contributed to several high-level textbooks utilized throughout the country. He has lectured extensively in the United States and internationally. Dr. Lai is a member of the American College of Cardiology, American Society of Echocardiography, and American Academy of Pediatrics, among other professional organizations. In addition, he sits on the National Board of Echocardiography Board of Directors.

His ongoing academic interests include creating a reliable set of normal values for cardiovascular structures in newborns and children, developing pediatric cardiac MRI guidelines, and testing new cardiac MRI sequences.

In his spare time, Dr. Lai loves spending time with his family. He also enjoys swimming, biking and running. He hopes to run in this year’s Boston and New York marathons, which he has participated in the past. He is also attending classes for a health care executive MBA at UC Irvine.

For cardiology referral guidelines, click here. To refer a patient, call 888-770-2462. 

To contact Dr. Lai, please call 714-509-3939.

CHOC Children’s Expands Fetal Cardiology Program

Approximately 1 percent, or 40,000, babies in the United States are born with a congenital heart disease each year. That’s almost 5,000 babies in California alone. In order to catch problems as early as possible, fetal cardiology specialists at the CHOC Children’s Heart Institute work with pregnant women to evaluate, diagnose and manage babies in utero who may be at risk for congenital heart defects, heart failure or rhythm disturbances.

CHOC offers the only comprehensive fetal cardiology services in Orange County, and our team has advanced training in fetal echocardiography, fetal magnetic resonance imaging, electrophysiology and genetics.

“Fetal echocardiography is a powerful tool that helps identify significant abnormalities and allows for family, delivery and interventional planning as necessary,” says Wyman Lai, MD, who recently joined CHOC from Columbia University in New York to lead CHOC’s non-invasive cardiac imaging program.

Fetal cardiac imaging is performed using ultrasound machines with the highest resolution imaging available, including 2D and Doppler analysis, as well as 3D technology. This allows us to perform first trimester screening so that patients can be referred at the earliest stages of pregnancy.

CHOC board-certified cardiologists perform fetal echocardiograms in their offices to help detect heart abnormalities before birth. At the time of appointment, patients receive a comprehensive diagnosis and care plan. Depending on the child’s condition, referrals to other experts, such as cardiac interventionalistscardiac electrophysiologistscardiac surgeons and heart failure specialists will be provided as needed. Early intervention improves the chance of survival after delivery for babies with severe defects.

Who Should Have a Fetal Echocardiogram

Pregnancies may be at risk for congenital heart disease for a variety of reasons.

Fetal risk factors include:

  • An abnormal appearing heart
  • Abnormal heart rate or arrhythmia on routine screening ultrasound
  • Aneuploidy (chromosomal abnormality)
  • Increased nuchal translucency thickness at first trimester evaluation
  • Noncardiac fetal structural abnormalities
  • A two-vessel umbilical cord
  • Identical twins
  • Fluid accumulation in the fetus.

Maternal risk factors include:

  • Maternal diabetes, lupus or other systemic disease that involves the heart
  • First-trimester use of known teratogens
  • Assisted reproduction technology
  • Maternal congenital heart disease.

Familial risk factors include:

  • A history of a previous child being born with a heart defect
  • The father being born with a heart defect
  • Other close relatives being born with heart defects or syndromes known to involve the heart.

Fetal Cardiology Referrals

If a pregnant woman is at high risk for delivering a child with congenital heart disease, our fetal cardiology specialists are available for consultation and referral. They can be reached at 714-509-3939, or you can find a fetal cardiologist here in our directory.