Symptoms and signs associated with syncope in young people with primary cardiac arrhythmias.

Background: It is often reported that clinical symptoms are useful in differentiating cardiac from non-cardiac syncope. Studies in the young are rare. This study was designed to capture the symptoms and signs reported by patients with cardiac syncope before the patients or their attending clinicians knew the final diagnosis.

Outcomes using predominantly single-stage approach to interrupted aortic arch and associated defects.

Background: Neonatal repair of interrupted aortic arch (IAA) involves an early choice between a single-stage or two-stage strategy. Risk factors for each are not yet fully investigated, especially as they relate to major associated cardiac malformations. We aimed to assess the outcome of neonates undergoing biventricular repair of IAA and associated congenital heart defects.

Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.

Background: Inherited long-QT syndrome is characterized by prolonged QT interval on the ECG, syncope, and sudden death caused by ventricular arrhythmia. Causative mutations occur mostly in cardiac potassium and sodium channel subunit genes. Confidence in mutation pathogenicity is usually reached through family genotype-phenotype tracking, control population studies, molecular modeling, and phylogenetic alignments; however, biophysical testing offers a higher degree of validating evidence.

Non-accidental head injury in New Zealand: the outcome of referral to statutory authorities.

Objectives: To describe the outcome of referral to the statutory authorities for infants under 2 years with non-accidental head injury (NAHI), and to establish whether the authorities held sufficient information to develop a risk profile for these cases.

Methods: Retrospective review of cases admitted to hospital in Auckland, New Zealand from 1988 to 1998. Records from the hospital admission, child protective services and Police were reviewed, up to 19 years from diagnosis.

Misdiagnosis of long QT syndrome as epilepsy at first presentation.

Study Objective: Long QT syndrome has significant mortality, which is reduced with appropriate management. It is known that long QT syndrome masquerades as other conditions, including seizure disorders. We aim to evaluate a series of patients with genetically confirmed long QT syndrome to establish the frequency of delayed recognition.

Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome.

Background: Sequencing or denaturing high-performance liquid chromatography (dHPLC) analysis of the known genes associated with the long QT syndrome (LQTS) fails to identify mutations in approximately 25% of subjects with inherited LQTS. Large gene deletions and duplications can be missed with these methodologies.

Objective: The purpose of this study was to determine whether deletions and/or duplications of one or more exons of the main LQTS genes were present in an LQTS mutation-negative cohort.

Long QT and Brugada syndrome gene mutations in New Zealand.

Background: Genetic testing in long QT syndrome (LQTS) is moving from research into clinical practice. We have recently piloted a molecular genetics program in a New Zealand research laboratory with a view to establishing a clinical diagnostic service.

Objective: This study sought to report the spectrum of LQTS and Brugada mutations identified by a pilot LQTS gene testing program in New Zealand.