Publications by authors named "A D Porretta"
Article Synopsis
- KCNQ1 mutations are linked to long QT syndrome (LQT) and increase the risk of life-threatening heart arrhythmias, with distinct impacts based on whether the mutations are heterozygous or homozygous.
- This study analyzed data from 789 individuals with KCNQ1 variants to compare QTc duration and cardiac event risks among three groups: JLNS patients, heterozygous JLNS variant carriers, and heterozygous non-JLNS variant carriers.
- Findings revealed that heterozygous JLNS variant carriers had a significantly lower risk of cardiac events compared to non-JLNS carriers, with specific genetic factors identified as influencing these risks.
Background: Enzyme replacement therapy (ERT) may halt or attenuate disease progression in patients with Anderson-Fabry disease (AFD). However, whether left ventricular hypertrophy (LVH) can be prevented by early therapy or may still progress despite ERT over a long-term follow-up is still unclear.
Methods: Consecutive patients with AFD from the Independent Swiss-Fabry Cohort receiving ERT who were at least followed up for 5 years were included.
Cardiac arrhythmias are a leading cause of mortality worldwide. Wearable devices based on photoplethysmography give the opportunity to screen large populations, hence allowing for an earlier detection of pathological rhythms that might reduce the risks of complications and medical costs. While most of beat detection algorithms have been evaluated on normal sinus rhythm or atrial fibrillation recordings, the performance of these algorithms in patients with other cardiac arrhythmias, such as ventricular tachycardia or bigeminy, remain unknown to date.
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