Pulmonary arterial response to hypoxia in survivors of chronic lung disease of prematurity.

Background: It is unclear whether increased pulmonary arterial (PA) reactivity to hypoxia observed in preterm infants who develop chronic lung disease of prematurity (CLD) persists into childhood.

Aim: We assessed and compared PA pulse wave velocity (PWV) in air and after 12% hypoxia using velocity-encoded MRI between children who had CLD in infancy and preterm-born and term-born controls.

Methods: From 67 recruited children, 59 (13 CLD, 21 preterm, 25 term), 9-12-year-old children successfully completed the study.

Clinical Characteristics and Outcomes of Cardiomyopathy in Barth Syndrome: The UK Experience.

Barth syndrome (BTHS) is an X-linked disorder characterised by cardiomyopathy, neutropenia, skeletal myopathy and growth delay. This study describes the UK national clinical experience and outcome of cardiomyopathy in BTHS. The clinical course and echocardiographic changes of all patients with BTHS in the UK were reviewed from 2004 to 2014.

Foetal blood flow measured using phase contrast cardiovascular magnetic resonance--preliminary data comparing 1.5 T with 3.0 T.

Background: Phase contrast cardiovascular magnetic resonance (PC CMR) has emerged as a clinical tool for blood flow quantification but its use in the foetus has been hampered by the need for gating with the foetal heart beat. The previously described metric optimized gating (MOG) technique has been successfully used to measure foetal blood flow in late gestation foetuses on a 1.5 T CMR magnet.

Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times.

Unlabelled: The commonest autosomal deletion, 22q11.2 deletion syndrome (22q11DS) is a multisystem disorder varying greatly in severity and age of identification between affected individuals. Holistic care is best served by a multidisciplinary team, with an anticipatory approach.

Assessment of pulmonary artery pulse wave velocity in children: an MRI pilot study.

Purpose: To assess the feasibility of measuring pulmonary artery (PA) pulse wave velocity (PWV) in children breathing ambient air and 12% oxygen.

Methods: Velocity-encoded phase-contrast MR images of the PA were acquired in 15 children, aged 9-12years, without evidence of cardiac or pulmonary diseases. PWV was derived as the ratio of flow to area changes during early systole.

Barth syndrome.

First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), endocardial fibroelastosis (EFE), left ventricular non-compaction (LVNC), ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical), compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history.

Dysmorphology of Barth syndrome.

Barth syndrome is an X-linked recessive condition caused by defective remodelling of cardiolipins in mitochondrial membranes because of mutations in the tafazzin (TAZ1/G4.5) gene located at Xq28. The cardinal features of Barth syndrome are cardiac and skeletal myopathy and neutropaenia, reported in the initial description of this condition by Barth et al.

Accidental ingestion of dosulepin presenting as atrial flutter in a child.

This case highlights the importance of considering drug ingestion when the clinical features at presentation are unusual. To our knowledge, this is the first report of atrial flutter secondary to tricyclic antidepressant (TCA) overdose in a child.

Clinical role, accuracy, and technical aspects of cardiovascular magnetic resonance imaging in infants.

Cardiovascular magnetic resonance imaging (CMRI) has been shown to be an important alternative to echocardiography and catheterization for diagnostic imaging in older patients with congenital heart disease. However, little information is available on its clinical role, accuracy, and technical aspects in infants. We retrospectively identified all patients <1 year of age who underwent a CMRI examination at our institution over a 4-year period (from 1999 to 2002) and reviewed their medical records.

Anaesthesia considerations for cardiac MRI in infants and small children.

Background: General anaesthesia is frequently necessary in infants and small children undergoing cardiac magnetic resonance imaging (MRI), because of the imaging techniques, MRI environment and potential need for breath-holding to facilitate imaging. Anaesthetizing paediatric patients with congenital heart disease (CHD) for cardiac MRI poses many challenges for the anaesthetist and this report reviews our experience.

Methods: We retrospectively reviewed the anaesthesia and MRI records of all patients who had undergone cardiac MRI between January 2000 and October 2002.

Pulmonary valvuloplasty in a case of vascular Ehlers-Danlos syndrome.

A 15-year-old girl with known Ehlers-Danlos syndrome (EDS) type IV presented with severe pulmonary valve stenosis requiring intervention. We describe successful pulmonary valvuloplasty using a 90% balloon/annulus angioplasty balloon. The procedure was complicated by early restenosis suggesting an abnormal scarring response in EDS IV.