Key result
NKX2-5 mutations in young patients manifest as diverse electrical phenotypes including coexisting bradyarrhythmias and tachyarrhythmias.
Why the study?
Children and young adults with NKX2-5 mutations can present with a varied spectrum of electrical phenotypes including bradyarrhythmias and tachyarrhythmias, but the full range and coexistence of these arrhythmias within one family is not well characterized.
Case Report
Answers are grounded in this paper and cite their sources.
NKX2-5 mutations can manifest with a broad spectrum of severe electrical phenotypes early in life, highlighting the need for longitudinal follow-up and potential early device intervention.
Key Teaching Points•Children and young adults with NKX2-5 mutations can present with a varied spectrum of electrical phenotypes in addition to their structural phenotype.•Bradyarrhythmias such as atrioventricular block and tachyarrhythmias such as atrial fibrillation and ventricular tachycardia can all coexist in patients with NKX2-5 mutations and may manifest as early as teenage years. It is pertinent to have a high index of suspicion for such arrhythmias and maintain longitudinal follow-up for patients with known NKX2-5 mutation.•Given the risk of sudden death in this population, early intervention with pacemaker implantation and/or implantable cardioverter-defibrillator placement should be considered. •Children and young adults with NKX2-5 mutations can present with a varied spectrum of electrical phenotypes in addition to their structural phenotype.•Bradyarrhythmias such as atrioventricular block and tachyarrhythmias such as atrial fibrillation and ventricular tachycardia can all coexist in patients with NKX2-5 mutations and may manifest as early as teenage years. It is pertinent to have a high index of suspicion for such arrhythmias and maintain longitudinal follow-up for patients with known NKX2-5 mutation.•Given the risk of sudden death in this population, early intervention with pacemaker implantation and/or implantable cardioverter-defibrillator placement should be considered.
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Jhaveri et al. (2018) conducted a case report in NKX2-5 mutations. NKX2-5 mutations was evaluated. NKX2-5 mutations in children and young adults can manifest as a varied spectrum of electrical phenotypes, including coexisting bradyarrhythmias and tachyarrhythmias.
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