"Ventricular pre-excitation can lead to symptomatic re-entrant
tachyarrhythmia in patients with mtDNA disease and is, in other patients, associated with
a small risk of sudden cardiac death. Consistent with international guidelines, and
following non-invasive assessment including an exercise ECG, consideration should
therefore be given to invasive electrophysiological study (EPS) in all patients with mtDNA
disease and non-intermittent pre-excitation.95,96 Asymptomatic
pre-excitation is a class IIa indication for EPS ± RFA in adults and class IIb in
children >5 years of age, but class III (i.e. "
[Show abstract] [Hide abstract] ABSTRACT: Mitochondrial disease refers to a heterogenous group of genetic disorders that result
from dysfunction of the final common pathway of energy metabolism. Mitochondrial DNA
mutations affect key components of the respiratory chain and account for the majority of
mitochondrial disease in adults. Owing to critical dependence of the heart on oxidative
metabolism, cardiac involvement in mitochondrial disease is common and may occur as the
principal clinical manifestation or part of multisystem disease. Recent advances in our
understanding of the clinical spectrum and genetic aetiology of cardiac involvement in
mitochondrial DNA disease have important implications for cardiologists in terms of the
investigation and multi-disciplinary management of patients.
[Show abstract] [Hide abstract] ABSTRACT: Background:
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is an inherited arrhythmia syndrome, characterised by polymorphic ventricular tachycardia induced by adrenergic stress. CPVT can be caused by mutations the cardiac ryanodine receptor gene (RYR2) or mutations in the cardiac calsequestrin gene CASQ2. Structural heart disease is usually absent and the baseline ECG is usually normal. Patients with CPVT often present with exercise- or emotion induced syncope, the first presentation can also be sudden cardiac death.
Besides removal of triggers treatment with beta blockers is currently a class I indication in clinically diagnosed patients. Beta blockage should be titrated up to an effective level. The addition of flecainide seems to be a promising approach in patients where arrhythmias are not completely suppressed by beta blockers. A cardioverter-defibrillator (ICD) or left cervical sympathetic denervation might be considered under special circumstances. Genetic counselling is recommended and all first degree relatives should be properly evaluated.
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