A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias Yoko Yoshida, MD, Keiichi Hirono, MD, PhD, Kae Nakamura, MD,

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Presentation transcript:

A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias Yoko Yoshida, MD, Keiichi Hirono, MD, PhD, Kae Nakamura, MD, Tsugutoshi Suzuki, MD, PhD, Yukiko Hata, MD, PhD, Naoki Nishida, MD, PhD HeartRhythm Case Reports Volume 2, Issue 1, Pages 92-97 (January 2016) DOI: 10.1016/j.hrcr.2015.11.008 Copyright © 2016 Heart Rhythm Society Terms and Conditions

Figure 1 A: A 2-dimensional echocardiogram recorded on admission. Bidirectional arrows indicate a noncompaction layer, and solid lines indicate a compaction layer in the left ventricle. Note the prominent trabeculations and deep intertrabecular recesses in the left ventricle. B: Lead II monitor electrocardiogram recorded on hospital day 14 showing sustained ventricular tachycardia with a heart rate of 150–170 bpm. C: The images shows the epicardial bipolar electrodes placed on the right atrium and ventricle, the shock coil placed on posterior of the left atrium through transverse sinus, and the implantable cardioverter defibrillator placed in the intraperitoneal space. HeartRhythm Case Reports 2016 2, 92-97DOI: (10.1016/j.hrcr.2015.11.008) Copyright © 2016 Heart Rhythm Society Terms and Conditions

Figure 2 A: Sequence analysis of exon 5 in ACTC1 of the proband showing results for the DNA sample isolated from a blood sample. The electropherograms show the heterozygous C>G substitution resulting in the threonine-to-arginine missense mutation. The putative amino acid sequence is shown above the nucleotide sequence. B: Alignment of the regions flanking the novel mutation in ACTC1 showing evolutionary conservation of the mutated residue across species (boxed). Dots indicate amino acids identical to the one in the human sequence. C: Structure of the ACTC1 indicating the position of the mutations previously described (black) and our novel variant (red), which are all highly conserved across species. ASD = atrial septal defect; DCM = dilated cardiomyopathy; HCM = hypertrophic cardiomyopathy; LVNC = left ventricular noncompaction; RCM = restrictive cardiomyopathy. HeartRhythm Case Reports 2016 2, 92-97DOI: (10.1016/j.hrcr.2015.11.008) Copyright © 2016 Heart Rhythm Society Terms and Conditions