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Aborted Sudden Death in a Young Male SELF ASSESSMENT

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Aborted Sudden Death in a Young Male SELF ASSESSMENT 664 Postgrad Med J 2003;79:664–666 Postgrad Med J: first published as 10.1136/pmj.79.937.666 on 3 December 2003. Downloaded from SELF ASSESSMENT ANSWERS Aborted sudden death in a Q2: What is the pathophysiological basisofthiscondition? What further young male diagnostic tests would you consider doing in this patient? Q1: What is the ECG (fig 1; p 660) Genetic studies have shown that Brugada diagnosis? Why is it important to syndrome and chromosome 3-linked long QT recognise this condition? syndrome (LQT3) are allelic disorders of the The ECG done on his arrival at the emergency cardiac channel gene (SCN5A, 3p21). The room (see questions) shows (i) sinus tachy- inheritance is autosomal dominant with cardia, (ii) a QRS complex that ends with a variable penetrance. The SCN5A gene codes positive deflection (or prominent J wave) for the alpha subunit of the sodium channel. that is, a rsR9 pattern in V1 and V2, and (iii) Mutations of this gene results in abnormal- an elevated downsloping ST segment ending ities of the sodium channel, with abnormal in a small negative T-wave deflection. This ion conductance patterns and can be demon- ECG pattern in someone with a history of strated in up to 25% Brugada syndrome syncopy and documented ventricular fibrilla- cases.235 Brugada-type downsloping ST seg- tion/aborted sudden death, is most consistent ment is a normal feature of the ECG in some with the eponymous Brugada syndrome. rodents, whereas in higher mammals, the ST Described first in 1992 by Brugada and segment is usually isoelectric in the normal Brugada, Brugada syndrome is an inherited state. Figure 1 (below) describes the various arrhythmogenic disease, which may presage phases of the cardiac ventricular action ventricular fibrillation and sudden cardiac potential. Failure of the plateau phase or death.1–5 ‘‘dome’’ to develop occurs when the transient The Gussak diagnostic criteria1 for Brugada outward currents, termed I (phases 1 and 3; syndrome are shown in box 1. One must be to fig 1) overwhelms the inward current, mainly Figure 1 Phases of the cardiac ventricular aware that ST elevation in the right praecor- action potential; solid line shows normal dial ECG leads occurs in a variety of clinical the calcium current termed ICa (phase 2; ventricular action potential and dotted line conditions, as shown in box 2, and hence fig 1). This results in a 40%–70% abbreviation shows Brugada-type action potential clinical correlation with diligent characterisa- of the action potential in some, but not all (schematic). tion of the ECG is mandatory before a epicardial sites (schematically represented by diagnosis of Brugada syndrome is made. the dotted line in fig 1), resulting in a marked Brugada syndrome is a recognised cause of dispersion of repolarisation within the ven- re-entry) can result in local re-excitation, sudden cardiac death, and hence the need for tricular muscle. This is manifest on the ECG producing closely coupled extrasystoles, prompt recognition and treatment. Every as marked QT-dispersion. Propagation of the which in turn may initiate circus movement year, in the United States alone, there are dome from sites where it is maintained to re-entry.2 In those cases where the typical about 300 000 new cases of sudden death due sites where it is abolished (termed phase 2 ECG changes are evanescent, programmed to cardiac arrest. Altogether 3%–9% out-of- electrical stimulation (PES) with or without hospital cases of ventricular fibrillation, chemical challenge with certain drugs may unrelated to myocardial infarction, occur in Box 1: Gussak’s criteria unmask the ST segment elevation in V1–V3 those with minimal or no structural heart and right bundle branch block-like pattern in disease.2 Such cases may include those with many patients.1 Sodium channel blockers Brugada syndrome, congenital and acquired N Major criteria*: long QT syndromes, pre-excitation states À http://pmj.bmj.com/ such as Wolff-Parkinson-White syndrome, 1. Presence of the ECG marker of and cases where no ready cause is apparent Brugada syndrome in patients with (so called ‘‘idiopathic’’ ventricular fibrilla- structurally normal heart. Box 2: Causes of ST segment tion). Though seen worldwide, Brugada 2. Appearance of the ECG markerÀ of elevation in right praecordial ECG syndrome in endemic in Southeast Asia and Brugada syndrome after administra- leads Japan, where it is known as sudden unex- tion of sodium channel blocker. plained death syndrome and sudden unex- plained nocturnal death syndrome, and the N Minor criteria*: N Anterior myocardial infarction. incidence has been estimated to range N Right or left bundle branch block. on September 23, 2021 by guest. Protected copyright. between five and 66 events per 100 000 1. Family history of sudden cardiac people.3 In some countries, the prevalence of death. N Right ventricular infarction. Brugada-type ECG changes among those who 2. Syncopy of unknown origin. N Left ventricular aneurysm. were diagnosed with ‘‘idiopathic ventricular 3. Documented episodes of ventricular N Exercise test induced. fibrillation’’, has been estimated to be as high as 40%–60%.2 Studies quote an incidence of tachycardia/ventricular fibrillation. N Acute myocarditis. sudden cardiac death varying between 44%– 4. Positive programmed electrocardios- N Dissecting aortic aneurysm. 62% in those with Brugada-type ECG and timulation test on ventricular tachy- 3 N Acute pulmonary thromboembolism. history of aborted sudden death/syncopy. cardia/ventricular fibrillation. Considerable variation exists in the clinical N Right ventricular outflow tract obstruction 5. Genetic mutations of ion channels presentation, and several ‘‘forms’’ of Brugada (tumour, etc). syndrome have been described: manifest, (yet to be fully defined). N Various central and autonomic nervous concealed, asymptomatic, suspected, and simulated.4 Brugada syndrome affects males system disorders. preferentially, and the mean age of those N Duchenne’s muscular dystrophy. .......................................... affected tends to be in the mid to late thirties. N Friedrich’s ataxia. Clinical manifestation of Brugada syndrome *One major and one minor criterion together are attributed exclusively to the malignant are needed for a diagnosis of Brugada N Hypercalcaemia and hyperkalaemia. ventricular arrhythmias that occur in this syndrome. N Heterocyclic antidepressant overdose. condition. Tragically, sudden death may be ÀTypically consists of rsR9 pattern with an N Cocaine intoxication. the first and only clinical event. These elevated terminal portion of the QRS complex arrhythmias often occur at rest, and in some (prominent J-wave ) in V1–V3, non-injury N Thiamine deficiency (beriberi). at night-time. High sympathetic tone, anxi- related elevated descending ST segment and ety, and alcohol consumption have all been negative T-wave in the same leads. proposed as possible provocative factors.2 Adapted from Gussak et al.1 Adapted from Gussak et al.2 www.postgradmedj.com Self assessment answers 665 Postgrad Med J: first published as 10.1136/pmj.79.937.666 on 3 December 2003. Downloaded from (SCB) such as procainamide, ajmaline and References resolving haematoma within a large section flecainide, b-blockers such as propranalol, a- 1 Gussak I, Bjerregaard P, Hammill SC. Clinical of angiomyolipoma. adrenergic and muscarinic stimulation—all diagnosis and risk stratification in patients with The diagnosis is spontaneous haemorrhage may bring out the typical ECG features, and Brugada syndrome. J Am Coll Cardiol into a renal angiomyolipoma in a patient indeed induce ventricular tachyarrhythmia 2001;37:1635–8. with tuberous sclerosis. Intrarenal, perirenal, and/or ventricular fibrillation in those with 2 Gussak I, Antzelevitch C, Bjerregaard P, et al. The retroperitoneal, and intraperitoneal haemor- Brugada syndrome. While PES and SCB Brugada syndrome: clinical, electrophysiologic rhage are well recognised complications of and genetic aspects. J Am Coll Cardiol 1 challenge may be useful in risk stratifying 1999;33:5–15. angiomyolipomata. Bleeding risk increases patients with Brugada syndrome, their ability 3 Nademanee K. Prognostic value of when they exceed 4 cm in size, and if to identify the symptomatic (cardiac arrest, electrophysiologic studies in Brugada syndrome. symptomatic may require intervention with syncopy) cases is at best modest (for PES, J Am Coll Cardiol 2002;39:1806–7. embolisation or nephric sparing surgery.12 positive and negative predictive values and 4 Surawicz B. Brugada syndrome: manifest, overall accuracy 50%, 46% and 49% respec- concealed, asymptomatic, suspected and Q4: What is the cause of the clotting tively; for SCB challenge, positive predictive simulated. J Am Coll Cardiol 2001;38:775–7. abnormality? value 35%).1 A complete workup of a sympto- 5 Naccarelli GV, Antzelevitch C. The Brugada syndrome: clinical, genetic, cellular, and A normal prothrombin time and prolonged matic patient with Brugada syndrome may molecular abnormalities. Am J Med activated partial thromboplastin time which also include echocardiography, coronary 2001;110:573–81. is not reversed when the patients plasma is angiography, stress testing, magnetic reso- diluted 1:1 with normal platelet free plasma nance imaging, and rarely, myocardial 4 An unusual cause of suggests lupus anticoagulant activity. biopsy. This patient underwent PES with Anticardiolipin antibodies were subsequently procainamide challenge, which resulted in abdominal pain negative in this case, and clotting studies inducing
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