Carla M Haglund

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OBJECTIVES The purpose of this study was to determine the spectrum and prevalence of cardiac channel mutations among a large cohort of consecutive, unrelated patients referred for long QT syndrome (LQTS) genetic testing. BACKGROUND Congenital LQTS is a primary cardiac channelopathy. More than 300 mutations have been identified in five genes encoding key(More)
BACKGROUND Swimming is a relatively genotype-specific arrhythmogenic trigger for type 1 long-QT syndrome (LQT1). We hypothesize that mimickers of concealed LQT1, namely catecholaminergic polymorphic ventricular tachycardia (CPVT), may also underlie swimming-triggered cardiac events. METHODS AND RESULTS Between August 1997 and May 2003, 388 consecutive,(More)
OBJECTIVE To perform long QT syndrome and catecholaminergic polymorphic ventricular tachycardia cardiac channel postmortem genetic testing (molecular autopsy) for a large cohort of cases of autopsy-negative sudden unexplained death (SUD). METHODS From September 1, 1998, through October 31, 2010, 173 cases of SUD (106 males; mean ± SD age, 18.4 ± 12.9(More)
BACKGROUND Mutations in the RyR2-encoded cardiac ryanodine receptor/calcium release channel and in CASQ2-encoded calsequestrin cause catecholaminergic polymorphic ventricular tachycardia (CPVT1 and CPVT2, respectively). OBJECTIVES The purpose of this study was to evaluate the extent of genotypic and phenotypic heterogeneity among referrals for CPVT(More)
PURPOSE Congenital long QT syndrome (LQTS) affects an estimated 1 in 5,000 persons, is characterized by QT interval prolongation, and has a clinical presentation ranging from asymptomatic longevity to sudden death in the young as the initial event. The purpose of this study was to describe the experiences of parents who have a child or children with LQTS.(More)
BACKGROUND Long QT syndrome (LQTS) typically presents with syncope, seizures, or sudden death. Patients with LQTS have been misdiagnosed with a seizure disorder or epilepsy and treated with antiepileptic drug (AED) medication. The gene, KCNH2, responsible for type 2 LQTS (LQT2), was cloned originally from the hippocampus and encodes a potassium channel(More)
OBJECTIVES The purpose of this study was to examine the effect of clinical phenotype on the yield of genetic testing for congenital long QT syndrome (LQTS). BACKGROUND Since the discovery of the first LQTS susceptibility genes in 1995, numerous genotype-phenotype relationships have emerged during the past decade of research genetic testing. In May 2004,(More)
BACKGROUND Long QT syndrome's (LQTS) marked heterogeneity necessitates both evidence-based and individualized therapeutic approaches. OBJECTIVE This study sought to analyze a single LQTS specialty center's experience regarding the relationship between risk factors and appropriate ventricular fibrillation (VF)-terminating therapies among LQTS patients(More)
BACKGROUND Long-QT syndrome (LQTS) is a potentially lethal cardiac channelopathy that can be mistaken for palpitations, neurocardiogenic syncope, and epilepsy. Because of increased physician and public awareness of warning signs suggestive of LQTS, there is the potential for LQTS to be overdiagnosed. We sought to determine the agreement between the(More)
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