PMC6342730_01
A: A 12-lead electrocardiogram (ECG) while off antiarrhythmic drugs, showing sinus rhythm, QRS right axis deviation, QRS width 140 ms, and prolonged terminal activation duration in V2 (70 ms). Clear J-point and ST elevation in II, III, and aVF. B: ECG after 10 years of follow-up, showing negative T-waves in V1-V3.
gr1.jpg
PMC6342730_01_gr1.jpg
fig1
ECG showed sinus rhythm with intraventricular conduction delay, including prolonged terminal activation duration (70 ms), and J-point elevation in the inferior leads (Figure 1A). T waves were recorded in V1-V3 (Figure 1B). Thus, he went on to fulfill definite ACM diagnosis criteria.
Pedigree of the p.Leu729del mutation carrier (case 1) reveals co-segregation of the variant with the arrhythmogenic cardiomyopathy phenotype with reduced penetrance. ARVD/C = arrhythmogenic right ventricular dysplasia/cardiomyopathy; Asx = asymptomatic; >TAD = prolonged terminal activation duration. Symbols: square = male; circle = female; + = SCN5A mutation carrier; (+) = obligate SCN5A mutation carrier; solid = clinical ARVD/C diagnosis; gray = clinical symptoms and/or borderline ARVD/C diagnosis; empty = negative phenotype for ARVD/C. *No abnormalities on comprehensive cardiac evaluation including 12-lead electrocardiogram, Holter monitoring, and cardiac imaging.
gr2.jpg
PMC6342730_01_gr2.jpg
fig2
Familial co-segregation supported pathogenicity of this SCN5A mutation (Figure 2).
PMC6342730_02
A: A 12-lead low-voltage electrocardiogram while off antiarrhythmic drugs showing normal sinus rhythm and QRS right axis deviation. Negative T waves in left precordial recordings and I, II, and aVF. B: Transthoracic echocardiogram during follow-up showing a dilated right ventricle with subtricuspid aneurysm (arrow).
gr3.jpg
PMC6342730_02_gr3.jpg
fig3
Electrocardiography showed sinus rhythm with negative T waves in leads V4-V6 and low voltage in extremity leads (Figure 3A). Fourteen years after the event, he showed signs of heart failure with dilated ventricles (Figure 3B, echocardiogram 2009: RVOT/RV lateral wall akinesia, inferior RV dyskinesia, parasternal long-axis RVOT: 56 mm, parasternal short-axis RVOT: 59 mm, and left ventricular ejection fraction 25%).