Suspected Kearns-Sayre-associated Tachy-Brady Syndrome
Abstract
Kearns–Sayre syndrome (KSS) is a rare mitochondrial disorder characterized by a triad of onset before the age of 20 years, chronic progressive external ophthalmoplegia (CPEO), and pigmentary retinopathy, together with systemic features such as cardiac conduction disease. Deletions or mutations in mitochondrial deoxyribonucleic acid (mtDNA) can disrupt cellular function, affecting the myocardial intercalated discs, resulting in arrhythmias. We hereby present the case of a 65-year-old Caucasian male of German origin with a pre-existing diagnosis of KSS, who presented with tachy-brady syndrome (TBS) with paroxysmal atrial fibrillation (PAF) and sinus bradycardia (SB) with a first-degree atrioventricular block (AVB). He was treated with guideline-directed medical therapy (GDMT) for heart failure with preserved ejection fraction (HFpEF) and direct oral anticoagulation (DOAC) for PAF. He deferred device therapy despite extensive counseling for sudden cardiac death (SCD) associated with KSS. Given the relative paucity of conventional risk factors, suspected Kearns-Sayre-associated tachy-brady syndrome (TBS) was deemed the likely diagnosis.
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BibTeX
@article{mbbs2026suspected,
title = {{Suspected Kearns-Sayre-associated Tachy-Brady Syndrome}},
author = {Arun Katwaroo MBBS and Matthew Maharaj MBBS and Priya Ramcharan MBBS and Valmiki Seecheran MBBS, MSc and Rajeev Seecheran MBBS, MHA and Robin Seemongal-Dass MBBS and Anil Ramlackhansingh MBBS, PhD and Sherry Sandy MBBS, DM and Naveen Seecheran MBBS, MSc},
journal = {Journal of Investigative Medicine High Impact Case Reports},
year = {2026},
month = oct,
doi = {10.1177/23247096261501858},
url = {https://doi.org/10.1177/23247096261501858},
note = {CC BY},
}
RIS
TY - JOUR
TI - Suspected Kearns-Sayre-associated Tachy-Brady Syndrome
AU - Arun Katwaroo MBBS
AU - Matthew Maharaj MBBS
AU - Priya Ramcharan MBBS
AU - Valmiki Seecheran MBBS, MSc
AU - Rajeev Seecheran MBBS, MHA
AU - Robin Seemongal-Dass MBBS
AU - Anil Ramlackhansingh MBBS, PhD
AU - Sherry Sandy MBBS, DM
AU - Naveen Seecheran MBBS, MSc
PY - 2026
DA - 2026/10/24
JO - Journal of Investigative Medicine High Impact Case Reports
DO - 10.1177/23247096261501858
UR - https://doi.org/10.1177/23247096261501858
AB - Kearns–Sayre syndrome (KSS) is a rare mitochondrial disorder characterized by a triad of onset before the age of 20 years, chronic progressive external ophthalmoplegia (CPEO), and pigmentary retinopathy, together with systemic features such as cardiac conduction disease. Deletions or mutations in mitochondrial deoxyribonucleic acid (mtDNA) can disrupt cellular function, affecting the myocardial intercalated discs, resulting in arrhythmias. We hereby present the case of a 65-year-old Caucasian male of German origin with a pre-existing diagnosis of KSS, who presented with tachy-brady syndrome (TBS) with paroxysmal atrial fibrillation (PAF) and sinus bradycardia (SB) with a first-degree atrioventricular block (AVB). He was treated with guideline-directed medical therapy (GDMT) for heart failure with preserved ejection fraction (HFpEF) and direct oral anticoagulation (DOAC) for PAF. He deferred device therapy despite extensive counseling for sudden cardiac death (SCD) associated with KSS. Given the relative paucity of conventional risk factors, suspected Kearns-Sayre-associated tachy-brady syndrome (TBS) was deemed the likely diagnosis.
SN - 2324-7096
ER -