Left ventricular hypertrabeculation is a novel predictor of life-threatening arrhythmic events in long QT syndrome patients

Figures

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  Fig. 1. ECG of a LVHT-LQTS co-phenotype patient (case 5). PR segment interval and QRS wave duration were normal, QTc prolongated to 716 ms with T-wave alternans

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  Fig. 2. The images of LVHT co-phenotype(Case2). (A.B)Pedigree of Case 2,3(LQTS-LVHT) and genetic sequencing electropherogram.The sibling of the proband(III-3) was diagnosed with LQTS(QTc = 614ms) only carrying the same mutation KCNH2 p.T273M.(C)24-hour-Holter of Case4 recorded Tdp deteriorating into ventricular fibrillation(VF). (D.E)Echocardiogram. (D)The thickness ratio of the non-compacted layer to the compacted layer on the short-axis image of the echocardiography satisfied the Stollberger et al. criteria1 at end-diastolic. (E) Intertrabecular recesses in the proband’s colour Doppler echocardiography that were filled with blood from the left ventricular cavity. (F.G.H) Cardiac magnetic resonance imaging (CMR) in case 2. (F) With a ratio of non-compacted to compacted myocardium of 3.4/1, the 4-chamber images on CMR demonstrated typical signs of left ventricular hypertrabeculation and met the Petersen et al. criteria. (G.H) Using a short-axis image of a two-chamber view and the standard AHA model, the myocardium was segmented into 17 sections

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  Fig. 3. Pedigrees of Case 4(LQTS-LVHT) . The proband(case 4) carried the compound mutation KCNH2 p.G626S from his mother(I-2) and SCN5A p.A1428S from father (I-1). Electrocardiograph showed QTc interval prolonged to 500ms in his mother without any clinical symptoms or cardiac imaging abnormity. The proband’s father was asymptomatic with normal electrocardiograph and echocardiography examination

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  Fig. 4. Pedigrees of Case 5 (LQTS-LVHT). Homozygous mutation KCNQ1 p.R174C was detected in the proband(case 5) with postnatal deaf, and the QTc interval was 716ms with T wave alternans. Heterozygosis mutation KCNQ1 p.R174C was identified in her parents with no clinical manifestation and normal electrocardiograph

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  Fig. 5. Kaplan-Meier curves demonstrate freedom from LAEs stratified by LVHT. The red line shows percentage of free from LAEs in LQTS-LVHT co-phenotype patients.The blue line indicates percentage of free from LAEs in LQTS-N-LVHT individuals