Cardiocerebral channelopathy caused by KCND3 mutation in a child: A case report

Area of Science:

• Genetics and Molecular Biology
• Cardiology
• Neurology

Background:

• Early repolarization syndrome (ERS) is uncommon in pediatric populations.
• Ion channel gene mutations can manifest as complex phenotypes, affecting both cardiac and cerebral functions.
• Cardiocerebral channelopathy describes this rare co-occurrence of cardiac and neurological disorders.

Observation:

• A case study of an 11-year-old girl presented with symptoms indicative of cardiocerebral channelopathy.
• The patient exhibited an early repolarization pattern on ECG, alongside epilepsy and intellectual disability.
• Genetic analysis identified a mutation in the KCND3 gene as the underlying cause.

Findings:

• The 11-year-old patient diagnosed with cardiocerebral channelopathy due to a KCND3 mutation showed a mixed electrophysiological phenotype.
• Treatment involved a combination of oral quinidine, metoprolol, and the implantation of a cardioverter-defibrillator.
• This therapeutic approach led to successful management of her condition.

Implications:

• Clinicians must maintain a high index of suspicion for cardiogenic syncope and sudden cardiac death in patients with epilepsy, intellectual disability, and early repolarization.
• Genetic testing for ion channelopathies should be considered in pediatric patients with unexplained cardiac and neurological symptoms.
• Early identification and comprehensive management are crucial for improving outcomes in rare channelopathies.