Archive for cardiovascular genetics
Kiersten finds new purpose after care for life-threatening cardiomyopathy
Being just three miles away from her cardiac care team at Boston Children’s makes all the difference in the world to New Jersey native Kiersten Rock-Torcivia as she starts her sophomore year at Boston College. She is now closer to the specialists who help her manage a rare and life-threatening cardiomyopathy. Kiersten initially believed she ... Read More about Kiersten finds new purpose after care for life-threatening cardiomyopathy
Shoring up heart muscle’s mini ‘managers’ to treat heart failure
Our heart muscle is studded with tiny dyads, intricately designed structures that manage incoming electrical signals and calcium release to coordinate our heartbeats. Could gene therapy help maintain dyads’ structure and boost the function of failing hearts? A new study suggests it can. “We know that in heart failure from many causes, dyads become disorganized,” says ... Read More about Shoring up heart muscle’s mini ‘managers’ to treat heart failure
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
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