Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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FRIGHTENING RUN-AMOK SYNCOPES

Marco Copertino, Federico Marchetti, Alessandra Benettoni1, Emanuela Berton1, Auro Gombacci1, Alessandro Ventura

Clinica Pediatrica, 1Unità Operativa di Cardiologia, IRCCS “Burlo Garofolo”, Università di Trieste

Febbraio 2009 - pagg. 105 -111

Abstract
This work reports the story of a 11-year-old boy with recurrent syncopes that occurred during the latest 4 years of his life, while he was under physical stress. Syncope is a common pediatric problem which implies the differential diagnosis between a great number of predisposing causes, including neurologic and cardiac disorders. We summarize the ruling- out decisions we choose to approach the clinical problem and we try to explain how the correct diagnosis was reached. We also describe the main features of two genetic arrhythmias which were thought of being responsible of his clinical condition: Long QT Syndrome (LQTS) and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). Even though they are quite rare diseases, it is very important to be aware of them as they can lead to sudden death. When first line screening evaluations are the key to identify in a simple way people who could have inherited these genetic mutations, molecular diagnosis confirms the presence of these arrhythmias.
Parole chiave
Aritmie genetiche CPVT Genetic arrhythmias LQTS Recurrent syncope sincope ricorrente
Suggerite dall'AI
Long QT syndrome Morte cardiaca improvvisa Sincope Sindrome del QT lungo Sudden cardiac death Syncope
Classificazione MeSH
Pathological Conditions, Signs and Symptoms Pathologic Processes Death Death, Sudden Death, Sudden, Cardiac (18)
Diagnosis Diagnostic Techniques and Procedures Diagnostic Techniques, Cardiovascular Heart Function Tests Electrocardiography (44)
Musculoskeletal and Neural Physiological Phenomena Musculoskeletal Physiological Phenomena Movement Motor Activity Exercise (30)
Health Care Facilities Workforce and Services Health Services Preventive Health Services Diagnostic Services Genetic Testing (44)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities Cardiovascular Abnormalities Heart Defects, Congenital Long QT Syndrome (18)
Pathological Conditions, Signs and Symptoms Signs and Symptoms Neurologic Manifestations Neurobehavioral Manifestations Consciousness Disorders Unconsciousness
Cardiovascular Diseases Heart Diseases Arrhythmias, Cardiac Tachycardia Tachycardia, Ventricular (5)
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Attenti a quelle due
Bronzetti G. · 2022
Tachycardia, Ventricular/Arrhythmias, Cardiac, Death, Sudden, Cardiac, Long QT Syndrome/Arrhythmias, Cardiac, Syncope
RI Problemi speciali
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G. Ferrara, E. Berton, C. Germani, P. Marzuillo, P · 2014
Tachycardia, Ventricular/Torsades de Pointes, Death, Sudden, Cardiac, Long QT Syndrome, Syncope
EL I Poster degli specializzandi
Quando meno te l'aspetti: la cardiopatia aritmogena del ventricolo destro
Perciasepe L, Cozzolino C, Grande E, Bertacca L, F · 2024
Tachycardia, Ventricular, Syncope, Electrocardiography
RI Aggiornamento
La sincope in età pediatrica
Corona F, Tessitore A, Bobbo M, Barbi E, Cozzi G. · 2022
Tachycardia, Ventricular/Arrhythmias, Cardiac, Long QT Syndrome/Arrhythmias, Cardiac, Syncope, Electrocardiography
EL I Poster degli specializzandi
QT lungo congenito ed epilessia: quale relazione?
L. Cortellazzo Wiel · 2019
Tachycardia, Ventricular/Arrhythmias, Cardiac, Long QT Syndrome/Arrhythmias, Cardiac, Syncope, Electrocardiography
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Bibliografia
1. Roden DM. Long-QT Syndrome. N Engl J Med 2008;358:169-76.
2. Schwartz PJ. Idiopathic long QT syndrome: Progress and questions. Am Heart J 1985;109: 399-411.
3. Schwartz PJ. The congenital long QT syndromes from genotype to phenotype: clinical implications. J Intern Med 2006;259:39-47.
4. Priori SG, Schwartz PJ, Napolitano C. Risk stratification in the long-QT syndrome. N Engl J Med 2003;348:1866-74.
5. Redi DS, Tynan M, Braidwood L, Fitzgerald GR. Bidirectional Tachycardia in a child: a study using His bundle electrography. Br Heart J 1975;37:339-44.
6. Coumel P, Fidelle J, Lucet V, et al. Catecholaminergic- induced severe ventricular arrhytmias with Adams-Stokes syndrome in children: report of four cases. Br Heart J 1978; 40(S):28-37.
7. Francis J, Sankar V, Nair VK, Priori SG. Catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm 2005;2:550-4.
8. Priori SG, Napolitano C, Tiso N, et al. Mutation in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 2000;103:196-200.
9. Laitinen PJ, Brown KM, Piippo K, et al. Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation 2001;103:485-90.
10. Postma AV, Denjoy I, Hoorntje TM, et al. Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia. Circ Res 2002;91:e21-6.
11. Uwais M, Napolitano C, Priori S. Molecular and electrophysiological bases of catecholaminergic Polymorphic Ventricular Tachycardia. J Cardiovasc Electrophysiol 2007; 18:791-7.
12. Tung R, Zimetbaum P, Josephson ME. A critical appraisal of implantable cardioverterdefibrillator therapy for the prevention of sudden cardiac death. J Am Coll Cardiol 2008;52: 1111-21.
13. Wilde AA, Bhuiyan ZA, Crotti L, et al. Left cardiac sympathetic denervation for catecholaminergic polymorphic ventricular tachycardia. N Engl J Med 2008;358:2024-9.
14. Leenhardt A, Lucet V, Denjoy I, Grau F, Ngoc DD, Coumel P. Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients. Circulation 1995;91:1512-9.
15. Sumitomo N, Harada K, Nagashima M, et al. Catecholaminergic polymorphic ventricular tachycardia: electrocardiographic characteristics and optimal therapeutic strategies to prevent sudden death. Heart 2003;89:66-70.
16. Priori SG, Napolitano C, Memmi M, et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 2002;106: 69-74.
17. Bauce B, Rampazzo A, Basso C, et al. Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers. J Am Coll Cardiol 2002;40:341-9.
18. European Heart Rhythm Association, Heart Rhythm Society, Zipes DP, et al. ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: a report of the American College of Cardiology/ American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (Writing Committee to Develop Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death). J Am Coll Cardiol 2006;48:e247-346.
19. Mohamed U, Gollob MH, Gow RM, Krahn AD. Sudden cardiac death despite an implantable cardioverter-defibrillator in a young female with catecholaminergic ventricular tachycardia. Heart Rhythm 2006;3:1486-9.
20. Pizzale S, Gollob MH, Gow R, Birnie DH. Sudden death in a young man with catecholaminergic polymorphic ventricular tachycardia and paroxysmal atrial fibrillation. J Cardiovasc Electrophysiol 2008;19:1319-21.

Corrispondenza: marco.copertino@gmail.com