Clinical and genetic spectrum of hereditary cardiac arrhythmia syndromes

Clinical and genetic spectrum of hereditary cardiac arrhythmia syndromes

Authors	Z.A. Bhuiyan
Supervisors	A.A.M. Wilde
Cosupervisors	M.M.A.M. Mannens
Award date	23-06-2009
ISBN	9789090243184
Number of pages	327
Organisations	Faculty of Medicine (AMC-UvA)
Document type	PhD thesis
Language	English
Downloads	Thesis Front cover Title pages Contents Chapter 1: Introduction : familial primary arrhythmias : genes, mechanisms and treatment : present perspective Chapter 2: The expanding spectrum of human RYR2-related disease : new electrocardiographic, structural and genetic features Chapter 3: A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22 Chapter 4: Molecular diagnostics of catecholaminergic polymorphic ventricular tachycardia using denaturing high-performance liquid chromatography and sequencing Chapter 5: Comprehensive open reading frame mutational analysis of the RYR2-encoded ryanodine receptor/calcium channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome Chapter 6: Left cardiac sympathetic denervation in catecholaminergic polymorphic ventricular tachycardia Chapter 7: Recurrent intrauterine fetal loss due to near absence of HERG : clinical and functional characterization of a homozygous non-sense HERG mutation Chapter 8: An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome Chapter 9: Clinical and genetic analysis of long QT syndrome in children from six families from Saudi Arabia : are they different? Chapter 10: Clinical and genetic analysis of long QT syndrome in two Malay children Chapter 11: Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin-2 mutation : wide spectrum of disease in mutation carriers within a family Chapter 12: Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy Chapter 13: Arrhythmogenic right ventricular cardiomyopathy : asymptomatic to life threatening as illustrated by the cases of two sisters Chapter 14: Desmoglein-2 and desmocollin-2 mutations in Dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients : results from a multicenter study Summary Samenvatting Future directions Dankwoord List of publications Short biography Back cover
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Clinical and genetic spectrum of hereditary cardiac arrhythmia syndromes