SNP Shot: Genomic Insights

Short QT syndrome is a disorder affecting the heart's electrical system, leading to irregular heartbeats (arrhythmias). Individuals with this syndrome experience a faster-than-normal recharging period of the heart muscle between beats. This "short QT" characteristic is identifiable on an electrocardiogram (EKG), a diagnostic test that records the heart's electrical activity. Specifically, the QT interval, a segment of the heartbeat displayed on the EKG, is abnormally brief.

Without treatment, the arrhythmias associated with short QT syndrome can manifest in various ways, ranging from mild symptoms like dizziness and fainting (syncope) to severe, life-threatening events such as cardiac arrest and sudden death. These symptoms can emerge at any stage of life, from infancy through adulthood. Short QT syndrome is considered a potential factor in some instances of sudden infant death syndrome (SIDS), a significant cause of unexplained infant mortality in children under one year old. It's important to note that some individuals with short QT syndrome remain asymptomatic, experiencing no adverse health effects.

Inheritance:

The inheritance pattern of short QT syndrome is typically autosomal dominant. This means that only one copy of a mutated gene in each cell is enough to cause the syndrome. While some affected individuals have a family history of short QT syndrome, related heart conditions, or sudden cardiac death, other cases are considered sporadic. Sporadic cases occur in individuals with no known family history of such heart problems.