Possible bradycardic mode of death and successful pacemaker treatment in a large family with features of long QT syndrome type 3 and Brugada syndrome
| Autor: | Harry J.G.M. Crijns, Irene M. van Langen, Maarten P. van den Berg, Gertie C. M. Beaufort-Krol, Annemieke H. Van Der Hout, Connie R. Bezzina, Jan W. Viersma, J.A.N. Hein Cornel, Arthur A.M. Wilde, Jaap Haaksma, Jan Brouwer, Irene Stolte-Dijkstra |
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| Přispěvatelé: | Cardiovascular Centre (CVC), Reproductive Origins of Adult Health and Disease (ROAHD), Health Psychology Research (HPR) |
| Jazyk: | angličtina |
| Rok vydání: | 2001 |
| Předmět: |
Bradycardia
Adult Male medicine.medical_specialty Pacemaker Artificial MOLECULAR MECHANISM INHERITED CARDIAC-ARRHYTHMIA sudden death HEART-RATE Sudden death Asymptomatic QT interval bradycardia NA+ CHANNEL BLOCKADE Death Sudden Electrocardiography SUDDEN-DEATH Heart Rate Physiology (medical) Internal medicine Cause of Death Heart rate Medicine Humans Brugada syndrome ST-SEGMENT ELEVATION SCN5A Bundle branch block business.industry MUTATIONS Middle Aged medicine.disease pacemaker Electrophysiology Long QT Syndrome long QT syndrome type 3 Anesthesia Ventricular fibrillation Cardiology Electrocardiography Ambulatory Exercise Test Female VENTRICULAR-FIBRILLATION medicine.symptom Cardiology and Cardiovascular Medicine business BUNDLE-BRANCH BLOCK |
| Zdroj: | Journal of Cardiovascular Electrophysiology, 12(6), 630-636. Wiley University of Groningen |
| ISSN: | 1045-3873 |
| Popis: | Introduction: We recently identified a novel mutation of SCN5A (1795insD) in a large family with features of both long QT syndrome type 3 and the Brugada syndrome. The purpose of this study was to detail the clinical features and efficacy of pacemaker therapy in preventing sudden death in this family. Methods and Results: The study group consisted of 116 adult family members: 60 carriers (29 males) and 56 noncarriers (28 males) of the mutant gene. Investigations included 24-hour Holter monitoring, ergometry, and electrophysiologic studies. Mean, lowest, and highest heart rate were lower in the carriers, but heart rate variability was comparable. In carriers, disproportional QT prolongation was present during bradycardia, No complex ventricular ectopy was recorded, and there were fewer isolated premature beats (both ventricular and atrial) in carriers, All patients were asymptomatic, except for tno individuals who experienced syncope; in one of these patients, asystolic episodes (up to 9 sec) were repeatedly recorded. Prolonged HV intervals were present in 5 of 6 patients, Thirty carriers received a prophylactic backup pacemaker. During median follow-up of 4.5 years (range 0.0 to 22,6), their survival rate was 100%, There were five sudden deaths among the remaining 30 carriers without a pacemaker (P = 0.019), Conclusion: This family with a high incidence of nocturnal sudden death is characterized by bradycardia-dependent QT prolongation, intrinsic sinus node dysfunction, and generalized conduction abnormalities. There is a striking absence of complex ventricular ectopy, and pacemaker implantation was effective in preventing sudden death. These findings raise the possibility of a bradycardic rather than tachycardic mode of death. |
| Databáze: | OpenAIRE |
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