Archive for heart
With support for genetic condition trisomy 18, Brooklyn ‘tells her own story’
Erin and Tim Haggan quickly realized they would always be seeking answers after learning the child they were expecting had trisomy 18. It is a life-threatening chromosomal condition, and only about 10 percent of children live beyond their first year. Those who survive grow slowly and often have congenital heart defects (CHD) and other organ anomalies. The couple ... Read More about With support for genetic condition trisomy 18, Brooklyn ‘tells her own story’
Adjusting to sitosterolemia took time, but Justin is now on a healthy path
After Justin Zhao was diagnosed with the rare metabolic disorder sitosterolemia five years ago, the toughest part of treatment was watching his three siblings eat chocolate when he couldn’t. Sitosterolemia is a genetic disease that causes the fatty substances, or lipids, from plant-based foods such as nuts and vegetable oils to build up in the arteries, increasing ... Read More about Adjusting to sitosterolemia took time, but Justin is now on a healthy path
A new view of heart health: Mutations accumulate in the heart starting in childhood
Why do so many people get heart disease when they get older? We know that factors like high blood pressure or high cholesterol contribute to heart disease risk, but they don’t explain all cases. A first-of-its-kind study from Boston Children’s Hospital offers a new lens on heart health. It shows that the cells of our ... Read More about A new view of heart health: Mutations accumulate in the heart starting in childhood
A new lens on cardiac surgery could help prevent arrhythmia
Sometimes, a change in perspective can lead to a medical breakthrough. A type of microscopy typically used to detect cancer and other diseases has been adapted to reveal the location of unseen conduction tissue around the heart. The Boston Children’s clinician behind this innovation now aims to prove the safety and effectiveness of fiber-optic confocal ... Read More about A new lens on cardiac surgery could help prevent arrhythmia
From South Africa to Boston: Kyleigh’s four-year search for good heart health
Kyleigh Kista had three open-heart surgeries in just the first 18 months of her life. But instead of progressing, her health was rapidly deteriorating by the time she reached 3. Her doctors said there was little else they could do, except make her a candidate for a heart and lung transplant. It was shattering news ... Read More about From South Africa to Boston: Kyleigh’s four-year search for good heart health
Getting to the heart of heart muscle function
Every heart muscle cell, or cardiomyocyte, is studded with tiny, intricate structures called dyads. The dyads are like orchestra conductors: They coordinate incoming electrical signals with release of calcium in the muscle, triggering contraction. When dyads work properly, the different segments of heart muscle contract in unison; when they don’t, heartbeats may be too weak ... Read More about Getting to the heart of heart muscle function
‘They just cared about Levi’: Finding answers for a complex vascular ring
The first sign that Levi Blair Winkler would no longer have problems swallowing was when, only three days after a complex surgery, he wolfed down four chicken nuggets and an apple. Just as encouraging for his parents, Rachel and Gabe, was that he stopped talking about the bug in his throat. That’s how Levi often ... Read More about ‘They just cared about Levi’: Finding answers for a complex vascular ring
Along the way to heart surgery, Liam found a name for his new teddy bear
After a complicated delivery in April 2021, Chelsea Allis had recovered and was finally able to bond with her infant son, Liam. But life became unsettled again only two months later, when a doctor performing a routine checkup on Liam detected a possible heart condition. Then, only a day before seeing a cardiologist to learn ... Read More about Along the way to heart surgery, Liam found a name for his new teddy bear
Using genetics to glimpse newborns’ future with congenital heart disease
Aside from infections, congenital heart disease (CHD) is the leading cause of infant mortality. Informed by babies she sees in the NICU, Sarah Morton, MD, PhD, attending physician in the Division of Newborn Medicine at Boston Children’s, has devoted her career to understanding CHD’s genetic causes. Her findings are shedding light on what parents and ... Read More about Using genetics to glimpse newborns’ future with congenital heart disease
Sudden, unexplained child deaths often have a genetic cause
When a baby or toddler dies without warning, parents often blame themselves. A study at Boston Children’s may provide some insight into sudden, unexplained child deaths and perhaps a measure of closure. It suggests that at least 10 percent of children who die suddenly have an undiagnosed genetic condition that caused or contributed to their ... Read More about Sudden, unexplained child deaths often have a genetic cause