Stories about: Heart Center

Genetic factors linked with neurodevelopmental delays in children with congenital heart disease

brain geneticsAs survival has improved dramatically for children with even the most serious forms of heart disease, neurodevelopmental disabilities have been increasingly recognized. These can affect not only school performance, but also future employment, quality of life and social relationships.

“We’ve known for a while that children with congenital heart disease (CHD) have a higher risk of developmental delays,” says Amy Roberts, MD, a genetic cardiologist at the Boston Children’s Hospital Heart Center. “There are multiple hypotheses as to why that might be, and they’re not mutually exclusive.”

The side effects of surgery, such as oxygen deprivation during bypass, are commonly thought to be to blame. Others suspect problems with the in utero environment. But these factors are not the whole story.

“Even in studies that have measured every known risk factor, only one third of neurodevelopmental disabilities in children with CHD can be explained by factors related to the child’s heart disease, medical history or family factors,” notes Jane Newburger, MD, MPH, director of the Cardiac Neurodevelopment Program at Boston Children’s.

Perhaps there is a genetic component?

In a recent study published in Science, a team of researchers from seven hospitals (Boston Children’s, Brigham and Women’s Hospital, Children’s Hospital of Philadelphia, Columbia, Mount Sinai, Yale and University of California Los Angeles), examined the whole genomes of 1,213 patients with complex CHD, looking for genetic indicators that a child will have developmental delays alongside his or her CHD.

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Mobile app lets doctors tell when a heart murmur is benign

More than half of all heart murmur referrals to pediatric cardiologists are for a Still’s murmur — a benign murmur that naturally occurs in 50 to 90 percent of children and goes away by adolescence.

Every year, pediatric cardiologists in the United States see 1.3 million children with Still’s murmurs. That adds up to over $400 million in consultation fees alone.

The cardiologist, in turn, may still be unsure whether the murmur is benign after listening to the child’s heart with a stethoscope. He or she might order a follow-up echocardiogram to be certain. If this happens just 10 percent of the time, that’s an additional $200 million in unnecessary costs incurred per year. On top of the financial burden on the healthcare system, the referrals and testing cause unnecessary anxiety for patients and families.

A mobile app in development by Raj Shekhar, MD, of Children’s National Health System and his team has the potential to significantly alleviate these burdens. The app, called StethAid, allows pediatricians to identify a Still’s murmur, thus establishing the child’s murmur as benign and eliminating the need for cardiac referral.

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Minimally invasive tool uses light for beating-heart repairs


Last year, cardiologists at Boston Children’s Hospital reported developing a groundbreaking adhesive patch for sealing holes in the heart. The patch guides the heart’s own tissue to grow over it, forming an organic bridge. Once the hole is sealed, the biodegradable patch dissolves, leaving no foreign material in the body.

As revolutionary as this device was, it still had one major drawback: implanting the patch required highly invasive open-heart surgery. But that may be about to change.

Researchers from the Wyss Institute, Brigham and Women’s Hospital, Harvard’s John A. Paulson School of Engineering and Applied Sciences (SEAS) and Boston Children’s have jointly designed a radically different way to implant the patch without having to stop the heart, place patients on bypass or cut open their chests.

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3-D printed models may soon guide one-of-a-kind pediatric heart operations

Photo credit: Bryce Vickmark, MIT News
Photo credit: Bryce Vickmark, MIT News

No two hearts are alike. It sounds like poetry, but this adage takes on a special meaning for pediatric cardiac surgeons.

Children born with congenital heart disease have unique cardiac anatomies. To correct them, surgeons need a nuanced understanding of each structure and chamber of the heart, and for decades have relied on (increasingly sophisticated) imaging technology.

Soon, though, they will be able to touch, turn and view replicas of their patients’ hearts up close. Researchers at Boston Children’s Hospital and MIT have jointly designed a computer program that can convert MRI scans of a patient’s heart into 3-D physical models.

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My work, my life, my innovations: Jean Connor, PhD, RN, CPNP

Stepping into Dr. Jean Connor’s office, the first thing you notice is color. So much color. Bella, Connor’s 9-year-old daughter, has decorated the space with handmade inspirational signs and artwork that explode with vibrant energy. “That’s how I innovate,” says Connor. “I like having all that positive energy around me.”

Connor, who has her PhD in nursing, directs nursing research at the Boston Children’s Heart Center. She was the first nurse to complete her post-doc at the Harvard School of Public Health and received a Champions in Healthcare award from the Boston Business Journal in 2012. Connor’s work translates industry research into actionable lessons and innovations that improve care at the bedside. In 2009, she developed a nursing acuity measurement tool called CAMEO (Complexity Assessment and Monitoring to Ensure Optimal Outcomes) that has since been validated to measure nursing workload across all pediatric and neonatal settings in the United States.

“I absolutely love my job,” Connor says. “I never thought I’d leave the bedside, but I feel like I’m impacting what happens at the bedside. We each have our ability to contribute to make the best possible experience for patients and families.”

Scroll over the items around Dr. Connor’s office to learn more about what inspires her.

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New and improved device shows promise for pediatric heart surgery

2000px-Hypoplastic_left_heart_syndrome.svg
In the Norwood procedure for HLHS, a graft creates a conduit between the right ventricle and the aorta, diverting blood flow from the underdeveloped left ventricle. But that graft can wear out. (BLUE represents oxygen-poor blood; RED, oxygen-rich blood; PURPLE, a mixture of the two.)

Hypoplastic left heart syndrome (HLHS) is a rare but serious form of congenital heart disease that leaves the left pumping chamber (ventricle) of the heart severely underdeveloped. Children born with HLHS can’t pump enough oxygenated blood from their heart to the rest of their body and need surgery as soon as possible to survive. Treatment ultimately involves three corrective surgeries throughout the infant and toddler years.

The first surgery, known as the Norwood procedure, is the riskiest of the three. Ideally performed within the first week of life, the procedure re-routes the heart’s plumbing to ensure enough oxygenated blood is circulated while the child grows big enough for the second surgery. A device called a graft is used to connect the fully-functional right ventricle to the aorta, bypassing the stunted left ventricle, for proper blood flow. However, with each ventricular contraction, the graft gets squeezed, which can cause it to shift or lose its shape over time. Repeat interventions to adjust the graft are often needed.

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Slow and steady wins the race: Genetic research sheds light on heart muscle disease

marathon runners close up
Manipulating genetic pathways could help diseased heart muscles gain more of the slow-twitch fibers abundant in marathon runners.

Heart muscles, like skeletal muscles, are made up of two major types of muscle fibers: fast twitch and slow twitch. Fast twitch fibers move quickly but tire easily, while slow twitch fibers move slower but last longer. Both serve important functions in different circumstances. For example, marathon runners tend to have a predominance of slow twitch fibers in their skeletal muscle; the opposite is true for sprinters.

At the Boston Children’s Hospital Cardiovascular Research Center, Da-Zhi Wang, PhD, and his colleagues recently discovered a genetic pathway responsible for fine-tuning twitch speed that, when disrupted, leads to cardiomyopathy, a disease of the heart muscle.

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Meet the researcher behind “heart on a chip”

Pu and wife and waterfallFrom a series on researchers and innovators at Boston Children’s Hospital.

With all of the recent buzz about precision medicine, it’s no wonder that William Pu, MD is gaining recognition for his innovative application of stem cell science and gene therapy to study Barth syndrome, a type of heart disease that severely weakens heart muscle. Pu’s research was recently recognized by the American Heart Association as one of the top ten cardiovascular disease research advances of 2014.

Can you describe your work and its potential impact on patient care?

We modeled a form of heart-muscle disease in a dish. To do this, we converted skin cells from patients with a genetic heart muscle disease into stem cells, which we then instructed to turned into cardiomyocytes (heart-muscle cells) that have the genetic defect. We then worked closely with bioengineers to fashion the cells into contracting tissues, a “heart-on-a-chip.”

How was the idea that sparked this innovation born?

This innovation combined the fantastic, ground-breaking advances from many other scientists. It is always best to stand on the shoulders of giants.

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Building a whole heart for children born with half: Q+A with a cardiac surgeon

Could a new surgical approach help children like Lucas get the rest of their heart back?

Our pediatric heart surgeons are used to pushing the envelope. Last month we reported on a new kind of heart valve for children with mitral valve defects that can expand as they grow. Now the same team reports 10 years of experience trying to rebuild a lost half of the heart for children born with hypoplastic left heart syndrome (HLHS), a devastating, life-threatening defect.

The new strategy, called staged left ventricle recruitment (SLVR), seeks to harness a child’s native capacity for growth and healing to encourage the undersized left ventricle to grow, giving the child a fully functional heart.

I sat down with Sitaram M. Emani, MD—a cardiac surgeon in the Heart Center at Boston Children’s Hospital and lead author on the SLVR paper—to learn more. 

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New valves for babies that can grow with them

In children with severe mitral valve defects, sometimes valve replacement is the only option. Expandable mitral valves that can be enlarged as a child grows could make caring for such children less complex and invasive.

The human heart is kind of like a busy factory with two powerful pumps—the ventricles—and two “unloading docks,” called the atria. Together, these chambers maintain a delicate balance, ensuring that oxygen-rich blood moves out into the body and that oxygen-poor blood gets pushed back to the heart and lungs.

Just like any factory, however, the heart’s essential functions can be seriously disrupted if just one piece of machinery isn’t working properly.

The mitral valve is a key part of that mechanical balance. This one-way valve helps move blood from the left atrium into the left ventricle, which then pushes the blood out to the body. A failure of the valve can be life-threatening, but fixing or replacing it in children is incredibly complex—and often requires many repeat operations over time.

But two cardiac surgeons at Boston Children’s Hospital, Sitaram Emani, MD, and Pedro del Nido, MD, may have made the repair a little easier by developing a replacement mitral valve that can expand as a child grows.

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