Journal Article

Arrhythmia prevalence and sudden death risk in adults with the m.3243A>G mitochondrial disorder

Mohiddin, Saidi, Ng, Yi Shiau, Gorman, Grainne S, Turnbull, Doug, Bourke, John P, Tynan, Margaret, Bates, Matthew G D

2022

Overview

AimsTo define the prevalence of non-sustained tachyarrhythmias and bradyarrhythmias in patients with the m.3243A>G mitochondrial genotype and a previously defined, profile, associated with ‘high sudden-death risk’.Methods and resultsPatients at high risk of sudden death because of combinations of ventricular hypertrophy, mitochondrial encephalopathy, lactic acidosis and stroke-like episodes family phenotype, epilepsy or high mutation load, due to the m.3243A>G mutation, were identified from a mitochondrial cohort of 209 patients. All recruited had serial ECG and echo assessments previously according to schedule, had an ECG-loop recorder implanted and were followed for as long as the device allowed. Devices were programmed to detect non-sustained brady- or tachy-arrhythmias. This provided comprehensive rhythm surveillance and automatic downloads of all detections to a monitoring station for cardiology interpretation. Those with sinus tachycardia were treated with beta-blockers and those with ventricular hypertrophy received a beta-blocker and ACE-inhibitor combination.Nine consecutive patients, approached (37.2±3.9 years, seven males) and consented, were recruited. None died and no arrhythmias longer than 30s duration occurred during 3-year follow-up. Three patients reported palpitations but ECGs correlated with sinus rhythm. One manifest physiological, sinus pauses >3.5 s during sleep and another had one asymptomatic episode of non-sustained ventricular tachycardia.ConclusionsDespite ‘high-risk’ features for sudden death, those studied had negligible prevalence of arrhythmias over prolonged follow-up. By implication, the myocardium in this genotype is not primarily arrhythmogenic. Arrhythmias may not explain sudden death in patients without Wolff-Parkinson-White or abnormal atrioventricular conduction or, it must require a confluence of other, dynamic, proarrhythmic factors to trigger them.

• Publisher: British Cardiovascular Society,BMJ Publishing Group LTD,BMJ Publishing Group
• Subject: Acidosis / Adrenergic beta-Antagonists / Age / arrhythmias / Arrhythmias and Sudden Death / Arrhythmias, Cardiac - diagnosis / Arrhythmias, Cardiac - epidemiology / Arrhythmias, Cardiac - genetics / Asymptomatic / Ataxia / Body mass index / Cardiac arrhythmia / Death, Sudden - etiology / Diabetes / Disease / Electrocardiography / Epilepsy / Family medical history / Fatigue / genetics / Genotype & phenotype / Heart rate / Humans / hypertrophic cardiomyopathy / Hypertrophy - complications / Hypoglycemia / inborn genetic diseases / Male / Metabolism / Migraine / Mitochondrial Diseases - complications / Mitochondrial DNA / Mutation / Patients / Prevalence / Stroke / Surveillance