Key result
A novel ACTC1 mutation was identified in a young boy presenting with left ventricular noncompaction and arrhythmias.
Case Report (n=1)
Reports a novel ACTC1 mutation associated with left ventricular noncompaction and arrhythmias in a pediatric patient.
Left ventricular noncompaction (LVNC) is a heterogeneous myocardial disorder characterized by prominent left ventricular trabeculae and deep intertrabecular recesses with variable clinical features. The classical triad of complications is heart failure, thromboembolic events, and arrhythmias including sudden cardiac death. LVNC has been recognized as a primary cardiomyopathy of genetic origin.1 However, the genetic basis of the disease in a large proportion of patients with LVNC remains unresolved.
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Yoshida et al. (2015) conducted a case report in Left ventricular noncompaction and arrhythmias (n=1). ACTC1 mutation was evaluated. A novel ACTC1 mutation was identified in a young boy presenting with left ventricular noncompaction and arrhythmias.
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