(FIT)-Module 1, Workshop 1: Electrocardiographic/Electrophysiologic Correlation-London Workshop 1

London Workshop 1

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This document outlines several clinical cases related to electrocardiographic and electrophysiology correlations. <br /><br />Case 1 involves a 54-year-old man with a pathological KCNQ1 mutation who has long QT syndrome type 1 (LQT1). The exercise stress test is useful in diagnosing long QT syndrome, and nadolol is recommended for prevention.<br /><br />Case 2 features a 47-year-old man whose brother has been diagnosed with Brugada syndrome. The best next step for this patient is to undergo an Implantable Cardioverter-Defibrillator (ICD) implantation.<br /><br />Case 3 involves a 32-year-old man with a family history of long QT syndrome. Genetic testing is recommended for this patient, and cascade screening may be necessary depending on the results.<br /><br />Case 4 includes a 21-year-old man whose twin brother died suddenly. However, the appropriate tests for this patient are not specified.<br /><br />Case 5 presents a 21-year-old woman who likely has Arrhythmogenic Cardiomyopathy (AC) with right ventricular (RV) predominance. The most likely pathogenic mutation identified through genetic testing is in the plakophilin-2 (PKP2) gene.<br /><br />Case 6 features a 45-year-old man who carries a long QT mutation but is clinically unaffected. Genetic testing is inconclusive in determining whether he has long QT syndrome.<br /><br />Case 7 involves a 64-year-old man who had a cardiac arrest following a liver abscess. The prolonged QTc interval is likely due to acquired long QT syndrome caused by medications and hypokalemia.<br /><br />Case 8 presents a 25-year-old man whose father has Brugada syndrome. Genetic testing showed that the son does not carry the same mutation, but he does have Brugada syndrome based on his ECG findings.<br /><br />Case 9 discusses the pathogenesis of arrhythmias in patients with Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), which is caused by mutations in the Cardiac Ryanodine Receptor (RYR2).<br /><br />Case 10 features a 9-year-old boy who carries a pathogenic mutation in SCN5A like his father, who had Brugada syndrome. The boy presented with a fever and exhibited a Type 1 Brugada syndrome pattern on the ECG. Fever can exacerbate the ECG findings in patients with Brugada syndrome, and cautious management is recommended.

Keywords

long QT syndrome

KCNQ1 mutation

exercise stress test

nadolol

Brugada syndrome

Implantable Cardioverter-Defibrillator (ICD)

genetic testing

Arrhythmogenic Cardiomyopathy (AC)

plakophilin-2 (PKP2) gene

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)