Diagnosis and management of very rare primary arrhythmia syndromes in children and adults: a Clinical Consensus Statement of the European Heart Rhythm Association of the ESC and the Association of Cardiovascular Nursing & Allied Professions of the ESC, endorsed by the Association for European Paediatric and Congenital Cardiology

Figures

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  Figure 1. ECG in JLNS sinus rhythm around 80 bpm with marked prolonged QTc and variability in T wave voltages (QTc around 640 ms). Courtesy Dr. Sarquella-Brugada with consent from patient. JLNS, Jervell and Lange-Nielsen syndrome.

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  Figure 2. ECG in SQTS, 2-year-old, asymptomatic, presenting with short QT—genetic positive for a KCNH2 T618I de novo mutation (RR/QT/QTc 600/260/336 ms) (paper recording speed of 25 mm/s). Courtesy Dr. Andrea Mazzanti with consent from patient. SQTS, short QT syndrome.

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  Figure 3. ECG in ATS. (A) Sinus Rhythm (SR) normal QTc with pronounced U waves. (B) Exercise ECG showing bidirectional VT and therefore polarity of the QRS (paper recording speed of 25 mm/s). ATS, Andersen–Tawil syndrome; VT, ventricular tachycardia.

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  Figure 4. ECG in CALM-LQTS. (A) CALM1-D130G, female, 2 years, showing markedly prolonged QTc and phases of T wave alternans. (B) CALM3-D130G, male, 4 days, 12-lead electrocardiogram showing markedly prolonged QTc around 600 ms and 2:1 atrio-ventricular block (paper recording speed at 25 mm/s and voltage 10 mV/mm). (C) Holter recording showing the VF onset in a CALM1-D130G, female, 9 months (paper recording speed of 25 mm/s). (From Ref. 51). LQTS, long QT syndromes; VF, ventricular fibrillation.

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  Figure 5. Major phenotypic categories of the CACNA1A gene-related disease. The diseases are colour-coded and written in Box in the figure and the respective genotype correlation with same colour (modified from Borbas et al.66).

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  Figure 6. ECG in a MEPPC patient with SR and multifocal ventricular ectopic beats and narrow QRS with rapid initial deflection. MEPPC, multifocal ectopic Purkinje-related premature complex.

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  Figure 7. ECG TANGO2 during metabolic crisis notice the prolonged QT interval with subtle Brugada pattern in V1 (paper recording speed at 25 mm/s and voltage 10 mV/mm).

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  Figure 8. ECG in congenital junctional ectopic tachycardia 150 bpm, note narrow qrs tachycardia with ventricle and atrium dissociation seen in, for example, Lead II (paper speed of 25 mm/s).

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  Figure 9. Overview of the molecular autopsy procedure and clinical translation in SUD cases. In cases in which no definitive cause of sudden death is identified after a complete autopsy and toxicology (SADS), post-mortem genetic analysis should be performed, as well as a clinical assessment of all relatives (at least parents and siblings of the index case). The clinical and genetic data obtained should be discussed by a multidisciplinary team of expert in the field. Family members should be provided with personalized clinical management and genetic counselling. SADS, sudden arrhythmic death syndrome; SUD, sudden unexpected death.