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Philippe Coumel - One of the best experts on this subject based on the ideXlab platform.
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catecholaminergic Polymorphic ventricular Tachycardia in children a 7 year follow up of 21 patients
Circulation, 1995Co-Authors: A Leenhardt, V Lucet, I Denjoy, Francis Grau, Dien Do Ngoc, Philippe CoumelAbstract:Background Primary ventricular tachyarrhythmias are rarely seen in children. Among them, catecholaminergic Polymorphic ventricular Tachycardia has a poor spontaneous outcome. Its diagnosis is often delayed after the first symptoms, which is unacceptable because treatment with the appropriate β-blocker prevents sudden death. Methods and Results We observed 21 children (mean±SD age, 9.9±4 years) at the time of the diagnosis who had no structural heart disease and a normal QT interval on routine ECG. They were referred for stress- or emotion-induced syncope related to ventricular Polymorphic tachyarrhythmias. The arrhythmia, consisting of isolated Polymorphic ventricular extrasystoles followed by salvoes of bidirectional and Polymorphic Tachycardia susceptible to degeneration into ventricular fibrillation, was reproducibly induced by any form of increasing adrenergic stimulation. There was a familial history of syncope or sudden death in 30% of our patients. On receiving therapy with the appropriate β-blocke...
Matti Viitasalo - One of the best experts on this subject based on the ideXlab platform.
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mutations of the cardiac ryanodine receptor ryr2 gene in familial Polymorphic ventricular Tachycardia
Circulation, 2001Co-Authors: Paivi Laitinen, Kevin M Brown, Kirsi Piippo, Heikki Swan, Joe M Devaney, Bhoomi Brahmbhatt, Elizabeth A Donarum, Michael A Marino, Natascia Tiso, Matti ViitasaloAbstract:Background Familial Polymorphic ventricular Tachycardia is an autosomal-dominant, inherited disease with a relatively early onset and a mortality rate of approximately 30% by the age of 30 years. Phenotypically, it is characterized by salvoes of bidirectional and Polymorphic ventricular Tachycardias in response to vigorous exercise, with no structural evidence of myocardial disease. We previously mapped the causative gene to chromosome 1q42-q43. In the present study, we demonstrate that patients with familial Polymorphic ventricular Tachycardia have missense mutations in the cardiac sarcoplasmic reticulum calcium release channel (ryanodine receptor type 2 [RyR2]). Methods and results In 3 large families studied, 3 different RyR2 mutations (P2328S, Q4201R, V4653F) were detected and shown to fully cosegregate with the characteristic arrhythmic phenotype. These mutations were absent in the nonaffected family members and in 100 healthy controls. In addition to identifying 3 causative mutations, we identified a number of single nucleotide polymorphisms that span the genomic structure of RyR2 and will be useful for candidate-based association studies for other arrhythmic disorders. Conclusions Our data illustrate that mutations of the RyR2 gene cause at least one variety of inherited Polymorphic Tachycardia. These findings define a new entity of disorders of myocardial calcium signaling.
A Leenhardt - One of the best experts on this subject based on the ideXlab platform.
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catecholaminergic Polymorphic ventricular Tachycardia in children a 7 year follow up of 21 patients
Circulation, 1995Co-Authors: A Leenhardt, V Lucet, I Denjoy, Francis Grau, Dien Do Ngoc, Philippe CoumelAbstract:Background Primary ventricular tachyarrhythmias are rarely seen in children. Among them, catecholaminergic Polymorphic ventricular Tachycardia has a poor spontaneous outcome. Its diagnosis is often delayed after the first symptoms, which is unacceptable because treatment with the appropriate β-blocker prevents sudden death. Methods and Results We observed 21 children (mean±SD age, 9.9±4 years) at the time of the diagnosis who had no structural heart disease and a normal QT interval on routine ECG. They were referred for stress- or emotion-induced syncope related to ventricular Polymorphic tachyarrhythmias. The arrhythmia, consisting of isolated Polymorphic ventricular extrasystoles followed by salvoes of bidirectional and Polymorphic Tachycardia susceptible to degeneration into ventricular fibrillation, was reproducibly induced by any form of increasing adrenergic stimulation. There was a familial history of syncope or sudden death in 30% of our patients. On receiving therapy with the appropriate β-blocke...
Paivi Laitinen - One of the best experts on this subject based on the ideXlab platform.
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mutations of the cardiac ryanodine receptor ryr2 gene in familial Polymorphic ventricular Tachycardia
Circulation, 2001Co-Authors: Paivi Laitinen, Kevin M Brown, Kirsi Piippo, Heikki Swan, Joe M Devaney, Bhoomi Brahmbhatt, Elizabeth A Donarum, Michael A Marino, Natascia Tiso, Matti ViitasaloAbstract:Background Familial Polymorphic ventricular Tachycardia is an autosomal-dominant, inherited disease with a relatively early onset and a mortality rate of approximately 30% by the age of 30 years. Phenotypically, it is characterized by salvoes of bidirectional and Polymorphic ventricular Tachycardias in response to vigorous exercise, with no structural evidence of myocardial disease. We previously mapped the causative gene to chromosome 1q42-q43. In the present study, we demonstrate that patients with familial Polymorphic ventricular Tachycardia have missense mutations in the cardiac sarcoplasmic reticulum calcium release channel (ryanodine receptor type 2 [RyR2]). Methods and results In 3 large families studied, 3 different RyR2 mutations (P2328S, Q4201R, V4653F) were detected and shown to fully cosegregate with the characteristic arrhythmic phenotype. These mutations were absent in the nonaffected family members and in 100 healthy controls. In addition to identifying 3 causative mutations, we identified a number of single nucleotide polymorphisms that span the genomic structure of RyR2 and will be useful for candidate-based association studies for other arrhythmic disorders. Conclusions Our data illustrate that mutations of the RyR2 gene cause at least one variety of inherited Polymorphic Tachycardia. These findings define a new entity of disorders of myocardial calcium signaling.
V Lucet - One of the best experts on this subject based on the ideXlab platform.
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catecholaminergic Polymorphic ventricular Tachycardia in children a 7 year follow up of 21 patients
Circulation, 1995Co-Authors: A Leenhardt, V Lucet, I Denjoy, Francis Grau, Dien Do Ngoc, Philippe CoumelAbstract:Background Primary ventricular tachyarrhythmias are rarely seen in children. Among them, catecholaminergic Polymorphic ventricular Tachycardia has a poor spontaneous outcome. Its diagnosis is often delayed after the first symptoms, which is unacceptable because treatment with the appropriate β-blocker prevents sudden death. Methods and Results We observed 21 children (mean±SD age, 9.9±4 years) at the time of the diagnosis who had no structural heart disease and a normal QT interval on routine ECG. They were referred for stress- or emotion-induced syncope related to ventricular Polymorphic tachyarrhythmias. The arrhythmia, consisting of isolated Polymorphic ventricular extrasystoles followed by salvoes of bidirectional and Polymorphic Tachycardia susceptible to degeneration into ventricular fibrillation, was reproducibly induced by any form of increasing adrenergic stimulation. There was a familial history of syncope or sudden death in 30% of our patients. On receiving therapy with the appropriate β-blocke...