Heart Center for Children

Heart, Australia

Heart Center for Children

Heart, Australia

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O'Grady G.L.,Institute for Neuroscience and Muscle Research | Yuen M.,Institute for Neuroscience and Muscle Research | Fock J.M.,University of Sydney | Fock J.M.,University of Groningen | And 19 more authors.
Neurology | Year: 2016

Objective: To describe the clinical and genetic characteristics of presynaptic congenital myasthenic syndrome secondary to biallelic variants in SLC18A3. Methods: Individuals from 2 families were identified with biallelic variants in SLC18A3, the gene encoding the vesicular acetylcholine transporter (VAChT), through whole-exome sequencing. Results: The patients demonstrated features seen in presynaptic congenital myasthenic syndrome, including ptosis, ophthalmoplegia, fatigable weakness, apneic crises, and deterioration of symptoms in cold water for patient 1. Both patients demonstrated moderate clinical improvement on pyridostigmine. Patient 1 had a broader phenotype, including learning difficulties and left ventricular dysfunction. Electrophysiologic studies were typical for a presynaptic defect. Both patients showed profound electrodecrement on low-frequency repetitive stimulation followed by a prolonged period of postactivation exhaustion. In patient 1, this was unmasked only after isometric contraction, a recognized feature of presynaptic disease, emphasizing the importance of activation procedures. Conclusions: VAChT is responsible for uptake of acetylcholine into presynaptic vesicles. The clinical and electrographic characteristics of the patients described are consistent with previously reported mouse models of VAChT deficiency. These findings make it very likely that defects in VAChT due to variants in SLC18A3 are a cause of congenital myasthenic syndrome in humans. © 2016 American Academy of Neurology.


Gill M.C.,Heart Center for Children | Oshaughnessy K.,Heart Center for Children | Dittmer J.,John Hunter Hospital
Perfusion (United Kingdom) | Year: 2015

Polymethylpentene (PMP) oxygenators, utilised for ECMO, are commonly believed to be resistant to plasma leakage. Whilst uncommon, plasma leakage has been previously reported with PMP fibres, both in vivo and in vitro. We describe a paediatric ECMO case during which plasma leakage occurred and oxygenator function gradually deteriorated, ultimately necessitating device replacement. To our knowledge, this is the first case of plasma leakage described using a PMP device during paediatric ECMO. Subsequent investigation is described, demonstrating that a protein coating reduces the free passage of solution across the PMP membrane. © The Author(s) 2015.


Kang S.-L.,Bristol Royal Hospital for Children | Forsey J.,Heart Center for Children | Dudley D.,Bristol Royal Hospital for Children | Steward C.G.,Bristol Royal Hospital for Children | Tsai-Goodman B.,Bristol Royal Hospital for Children
Pediatric Cardiology | Year: 2016

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. In addition, strain analysis using 2D speckle tracking echocardiography was performed to further assess left ventricular function in the most recent follow-up. At last follow-up, 22 of 27 patients were alive with a median age of 12.6 (2.0–23.8) years; seven underwent cardiac transplantation at a median age of 2 (0.33–3.6) years, and five died (18.5 %) at a median age of 1.8 (0.02–4.22) years. All deaths were related to cardiomyopathy or its management. Left ventricular diastolic dimension and systolic function measured by fractional shortening tended to normalise and stabilise after the first 3 years of life in the majority of patients. However, patients with BTHS (n = 16) had statistically significant reduction in global longitudinal and circumferential strain compared to controls (n = 18), (p < 0.001), despite apparent normal conventional measures of function. There was also reduced or reversed apical rotation and reduced left ventricular twist. Sustained ventricular arrhythmia was not seen at follow-up. Cardiac phenotype in BTHS is variable; however, longer-term outcome in our cohort suggests good prognosis after the first 5 years of life. Most patients appeared to have recovered near normal cardiac function by conventional echocardiographic measures, but strain analysis showed abnormal myocardial deformation and rotational mechanics. © 2015, Springer Science+Business Media New York.


PubMed | Heart Center for Children
Type: Journal Article | Journal: Perfusion | Year: 2012

Neonatal extracorporeal membrane oxygenation (ECMO) patients are particularly vulnerable to the effects of uncompensated insensible water loss resulting in hypernatraemia. There exists a long-standing relationship between hypernatraemia and varying degrees of cerebral dysfunction. The aim of this study is to explore the degree to which free water loss occurs across a commonly used ECMO oxygenator, the polymethylpentene (PMP) membrane Hilite 2400LT (Medos, Medizintechnik AG, Stolberg, Germany). The secondary aim is to assess to what extent the addition of heat and/or humidity ameliorates this water loss.An ECMO circuit consisting of a centrifugal pump and a Hilite 2400LT oxygenator was primed with crystalloid and albumin. Each experimental trial was carried out in triplicate, with gas flow rates of 1, 3 and 4.8 L/min being investigated. Fluid loss was assessed at six time points over a 24-hour period.Water loss increased significantly from 1 to 3 L/min gas flow (p=0.05) and from 3 to 4.8 L/min gas flow (p=0.025). The mean water loss differences between the differing gas flow trials per L/min gas flow were non-significant (72.4 3.9 ml/24 hrs). The effect of heating the gas to 37 C did not significantly alter water loss, whereas heat and humidity reduced water loss significantly (p=0.009).Insensible water loss from a Hilite 2400LT oxygenator is approximately 72 ml/day per L/min gas flow over 24 hrs. Heating and humidifying the gas reduces the fluid loss significantly to approximately 8 ml/L/min gas flow over 24 hrs (p=0.009).


PubMed | Heart Center for Children and Bristol Royal Hospital for Children
Type: Journal Article | Journal: Pediatric cardiology | Year: 2016

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. In addition, strain analysis using 2D speckle tracking echocardiography was performed to further assess left ventricular function in the most recent follow-up. At last follow-up, 22 of 27 patients were alive with a median age of 12.6 (2.0-23.8) years; seven underwent cardiac transplantation at a median age of 2 (0.33-3.6) years, and five died (18.5%) at a median age of 1.8 (0.02-4.22) years. All deaths were related to cardiomyopathy or its management. Left ventricular diastolic dimension and systolic function measured by fractional shortening tended to normalise and stabilise after the first 3 years of life in the majority of patients. However, patients with BTHS (n = 16) had statistically significant reduction in global longitudinal and circumferential strain compared to controls (n = 18), (p < 0.001), despite apparent normal conventional measures of function. There was also reduced or reversed apical rotation and reduced left ventricular twist. Sustained ventricular arrhythmia was not seen at follow-up. Cardiac phenotype in BTHS is variable; however, longer-term outcome in our cohort suggests good prognosis after the first 5 years of life. Most patients appeared to have recovered near normal cardiac function by conventional echocardiographic measures, but strain analysis showed abnormal myocardial deformation and rotational mechanics.

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