SNP Shot: Genomic Insights

Romano-Ward syndrome is a heart rhythm disorder (arrhythmia) characterized by disruptions in the heart's electrical activity. It's a type of long QT syndrome, a condition where the heart muscle takes an extended time to electrically recover between beats. This prolonged recovery is reflected in a longer than normal "QT interval" on an electrocardiogram (ECG or EKG), a test that measures the heart's electrical activity. This prolonged QT interval and subsequent delayed recharge of the heart muscle results in irregular heartbeats.

The irregular heartbeats associated with Romano-Ward syndrome can cause fainting (syncope), cardiac arrest, or even sudden death. However, some individuals with the syndrome may remain asymptomatic and never develop any related health issues.

While fifteen different types of long QT syndrome have been identified based on their genetic origins, some types also involve other cardiac or systemic abnormalities. Romano-Ward syndrome specifically refers to long QT syndrome where a prolonged QT interval is the only observed abnormality.

Inheritance:

Romano-Ward syndrome is inherited in an autosomal dominant manner. This means that only one copy of a mutated gene in each cell is enough to cause the disorder. Typically, individuals inherit the mutated gene from a parent who also has the condition. However, a small number of cases arise from new, spontaneous mutations in the related genes, occurring in individuals with no prior family history of Romano-Ward syndrome. Furthermore, some people carrying a disease-causing gene may not exhibit any signs or symptoms of the condition, a phenomenon referred to as reduced penetrance.