Kearns-Sayre Syndrome With Persistent Ventricular Tachycardia Refractory to Shocks and Medications

Area of Science:

• Cardiology
• Genetics
• Neurology

Background:

• Kearns-Sayre syndrome (KSS) is a rare mitochondrial disorder.
• Cardiovascular conduction abnormalities are a hallmark of KSS.
• Existing treatments, including automatic implantable cardioverter defibrillators (AICDs), have variable efficacy.

Observation:

• A 62-year-old male with KSS presented with syncope.
• The patient had a history of AICD implantation at age 34.
• He experienced recurrent, drug-refractory ventricular tachycardia (VT) and Qtc prolongation, an unusual finding in KSS.

Findings:

• The patient's ventricular tachycardia (VT) progressed to a VT storm, refractory to AICD shocks.
• Despite AICD intervention, the patient's condition worsened.
• The case underscores the challenges in managing severe cardiac manifestations of KSS.

Implications:

• There is a critical need for improved clinical guidelines for KSS management.
• Enhanced management strategies may reduce mortality associated with KSS.
• Further research into the cardiac pathophysiology of KSS is warranted.