Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. Beginning in early childhood, the irregular heartbeats increase the risk of fainting (syncope) and sudden death.

Jervell and Lange-Nielsen syndrome is caused by mutations in the KCNE1 and KCNQ1 genes. These genes provide instructions for making proteins that work together to form a channel across cell membranes. These channels transport positively charged potassium atoms (ions) out of cells. The movement of potassium ions through these channels is critical for maintaining the normal functions of inner ear structures and cardiac muscle.

Jervell and Lange-Nielsen syndrome is uncommon; it affects an estimated 1.6 to 6 per 1 million people worldwide. This condition has a higher prevalence in Denmark, Sweden, and Norway, where it affects at least 1 in 200,000 people.

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the mutated gene. Some carriers of a KCNQ1 or KCNE1 mutation have a long QT interval with related heart abnormalities, but their hearing is normal.

Published Date: September 01, 2017
Published By: National Institutes of Health