Research
The discoveries our registry and biobank have made possible, the studies under way, and the questions we are taking on next.
The record
A solid line is work that has happened. A dashed line is work that has not happened yet.
Discoveries and publications iHOPE-Kids helped make possible.
This Heart Rhythm Society statement examines how U.S. high schools teach CPR and automated external defibrillator (AED) use. It identifies gaps in hands-on practice, refresher training, and access, and proposes ways to help more students learn and retain lifesaving skills.
A study across nine centers followed children and adults with epilepsy to investigate sudden unexpected death in epilepsy (SUDEP). Longer pauses in breathing around seizures, frequent convulsive seizures, and living alone were associated with higher risk, supporting further research into heart and breathing monitoring during seizures.
Among 168 children with RYR2-related catecholaminergic polymorphic ventricular tachycardia (CPVT), 19 had intellectual or developmental delays. This group developed symptoms earlier and experienced more serious heart problems, suggesting that some RYR2 variants can affect both brain development and heart rhythm.
This international study described the development, symptoms, and medical crises of 73 people with TANGO2 deficiency disorder. Fewer metabolic crises were observed after B-complex or multivitamin supplementation began, providing observational evidence for further study of this approach.
In two families with TANGO2 deficiency disorder, younger siblings who began B-vitamin supplementation in infancy had much milder symptoms than their older siblings. These observations suggest that early diagnosis and supplementation may help, but this small case series cannot establish that the vitamins caused the difference.
Researchers reviewed 43 cardiac crises in 27 children with TANGO2 deficiency disorder across 14 centers. The study documented dangerous heart rhythms, weakened heart muscle, and cardiac arrest during metabolic crises, and described treatment experiences to help clinicians recognize and manage these emergencies.
Researchers created heart cells from a child with CPVT and tested the experimental compound EL20. It reduced abnormal calcium release linked to dangerous rhythms in those cells, offering a potential direction for drug development; the study did not test treatment in patients.
This multicenter study followed 106 young people who received an implanted defibrillator after surviving sudden cardiac arrest. About one in five later received an appropriate shock, and an unexplained initial arrest did not mean a lower risk of another dangerous rhythm.
Two siblings with EXOSC5-related disease had developmental differences alongside serious problems with the electrical signals controlling their hearts. Together with an earlier family report, these findings expanded the known features of the condition and supported proactive heart screening.
This 2020 joint American Heart Association and American College of Cardiology guideline set out recommendations for diagnosing and treating hypertrophic cardiomyopathy, a condition in which the heart muscle becomes abnormally thick. It brought together evidence and expert guidance to inform clinical care.
Researchers studied genetic contributions to Wolff-Parkinson-White (WPW) syndrome, in which an extra electrical pathway can cause rapid heart rhythms. They found rare variants in heart-related genes and an increased burden of variants linked to atrial fibrillation, suggesting shared genetic influences in some patients.
A study at 25 international centers followed 84 fetuses or newborns with severe long QT syndrome. Those with the LQT3 genetic subtype had more serious cardiac events after leaving the hospital than those with LQT1 or LQT2, showing how genetic subtype can help clinicians assess risk.
This report described a young child with severe muscle weakness and an enlarged, weakened heart who was missing both copies of neighboring genes TNNT1 and TNNI3. The finding helped explain the combination of muscle and heart disease and highlighted the value of looking for deletions affecting adjacent genes.
In a multicenter study of 80 children with CPVT, dangerous ventricular rhythms occurred more often in the afternoon and evening than in the morning. The pattern was also seen during exercise testing, raising questions about how time of day influences this inherited rhythm disorder.
Researchers examined more than 6,500 clinical exome tests and found that incidental variants in CPVT-related genes were usually of uncertain significance. Their findings showed why a genetic result must be interpreted alongside symptoms and clinical evaluation before it is treated as evidence of CPVT.
Genetic sequencing identified changes in both copies of TANGO2 in 12 people with repeated muscle breakdown, metabolic crises, and susceptibility to life-threatening heart rhythms. This discovery established a genetic explanation for a previously unexplained combination of neurological, metabolic, and cardiac problems.
Researchers identified the CACNA1C variant L762F in a family with long QT syndrome. Laboratory experiments showed that the altered calcium channel stayed active longer, helping explain how this variant can disturb the heart rhythm without the broader features of Timothy syndrome.
This study linked certain SCN5A gene changes to problems with the heart's natural pacemaker, abnormal atrial rhythms, and difficulty getting implanted pacemakers to reliably stimulate the heart. Recognizing this association may help clinicians plan device implantation and follow-up.
Where the thread begins
Choose the one closest to yours.
Still searching
Who can join
Anyone with an unexplained or undiagnosed heart-rhythm disorder — living or deceased.
After a loss
Who can join
Families who lost someone to a sudden, unexplained cardiac event.
A sample is best collected within about a year, so it is worth asking early.
Already diagnosed
Who can join
People already diagnosed with an arrhythmia.
A known condition can still reveal a wider pattern.
Your thread joins here
Tell us how your sample and information may be used — you stay in control throughout.
A bit of history, so your case can be studied alongside similar ones.
A simple blood draw or cheek swab is all it takes.
We send step-by-step instructions and the biobank address at Texas Children's Hospital.
Sometimes a relative's sample helps reveal inheritance patterns.
Your thread joins here
Tell us how your sample and information may be used — you stay in control throughout.
A bit of history, so your case can be studied alongside similar ones.
A simple blood draw or cheek swab is all it takes.
We send step-by-step instructions and the biobank address at Texas Children's Hospital.
Sometimes a relative's sample helps reveal inheritance patterns.
DNA biobank
Biobanking stores a DNA sample — from a blood draw or cheek swab — so genetic testing is possible now, or later as the science advances.
SPECIMEN · STORAGE
TEXAS CHILDREN’S HOSPITAL
HOUSTON, TX · −80°C
Samples are best collected within about a year of a loved one's passing. After that, DNA can degrade and may no longer be testable. A coroner or medical examiner can often help collect one — ask early, since retention timelines vary.
Studying children with rare heart-rhythm disorders together — not one by one — helps doctors find causes and better care.
