Archive for congenital heart defect
Finding a possible genetic treatment for rare arrhythmias
Variants in a gene that plays a key role in heart function can cause potentially life-threatening arrhythmia syndromes known as calmodulinopathy. Calmodulinopathy is rare and causes arrhythmias that are poorly treated by current options. Boston Children’s cardiologist William Pu, MD, believes he has found a promising custom genetic treatment: antisense oligonucleotides that deplete the disease-causing gene product. ... Read More about Finding a possible genetic treatment for rare arrhythmias
Ted Williams, chocolate milkshakes, and a pioneering heart team: What Bruce remembers about his heart surgery 65 years later
Bruce Chansky was the star of his neighborhood after he had heart surgery at Boston Children’s. It was 1959, a time when a child having heart surgery wasn’t common — it was newsworthy. Eleven-year-old Bruce was featured in his hometown newspaper, which only furthered his celebrity in Beverly, Massachusetts. Friends, neighbors, and strangers all wanted ... Read More about Ted Williams, chocolate milkshakes, and a pioneering heart team: What Bruce remembers about his heart surgery 65 years later
Healing the heart, mind, and spirit
For most of her life, Siena Tancredi worried about her heart beating too fast. She has long QT syndrome, an inherited condition that affects the heart’s electrical rhythm and can cause fast, erratic heartbeats. From the time she was diagnosed at age 10 and into adulthood, she avoided any situation that would potentially cause her heart ... Read More about Healing the heart, mind, and spirit
Whether she’s embracing school, sports, or music, Lindsey shows how Williams syndrome can be managed
One of the first things Lindsey Franco will tell you is, “I like being me. I like being happy.” The 19-year-old has a lot to be happy about. She attends a post-high school transition program that helps young adults expand their social and life skills. There, she does all the things she enjoys, including playing ... Read More about Whether she’s embracing school, sports, or music, Lindsey shows how Williams syndrome can be managed
In the genetics of congenital heart disease, noncoding DNA fills in some blanks
Researchers have been chipping away at the genetic causes of congenital heart disease (CHD) for a couple of decades. About 45 percent of cases of CHD have an identifiable cause, including chromosomal abnormalities, genetic variants affecting protein-coding genes, and environmental factors. What about the rest of the cases of CHD? Noncoding DNA elements have long ... Read More about In the genetics of congenital heart disease, noncoding DNA fills in some blanks
Twenty years after a groundbreaking biventricular repair, Faith gives back by helping children with CHD
Faith Brackett doesn’t remember every detail of the time she was among the first children to have a new life-saving heart surgery. She was 7, after all, when she had a biventricular repair — a procedure that creates two functioning ventricles in a heart relying on just one. But she does remember how the surgery finally gave ... Read More about Twenty years after a groundbreaking biventricular repair, Faith gives back by helping children with CHD
A lifetime of treatment inspires Ruth to advocate care for others
Ruth Ngwaro offers guidance to children who have heart disease. Perhaps her most useful bit of advice is telling them to not look too far ahead in their lifelong journeys and instead focus on what they can do each day. She would know: Throughout childhood and well into adulthood, Ruth was in and out of ... Read More about A lifetime of treatment inspires Ruth to advocate care for others
A true heart of gold: Jeremiahs’ heart transplant journey
With sirens wailing, Angelie and her husband sped through traffic, anxious to get to the city in time. The police escort ahead of them cleared the way, allowing for a speedy commute to Boston Children’s Hospital where their 6-year-old son, Jeremiahs — nicknamed JJ — was waiting for them. If Angelie hadn’t waved down the ... Read More about A true heart of gold: Jeremiahs’ heart transplant journey
Helping aspiring clinicians understand a virtual heart before they work with a real one
Jonathan Awori, MD, MS, MFA, isn’t embarrassed to say it took him a long time to completely understand the intricate workings of the heart. He says he isn’t alone; many aspiring doctors and nurses don’t immediately grasp the heart’s complexity from two-dimensional textbooks or even 3D-printed models. Now that he’s a pediatric cardiology fellow at ... Read More about Helping aspiring clinicians understand a virtual heart before they work with a real one
Research aims to pinpoint genetic connection between autism and heart disease
Cardiology and neurodevelopmental researchers have more questions than answers about the possible genetic links between congenital heart disease (CHD) and autism spectrum disorder (ASD). A study that’s underway at Boston Children’s aims to pin down those elusive answers by taking a close look at the genetics of children with neurodevelopment and cardiovascular conditions. The researchers want to see ... Read More about Research aims to pinpoint genetic connection between autism and heart disease