152 results found
Norrish G, Kolt G, Cervi E, et al., 2021, Clinical presentation and long-term outcomes of infantile hypertrophic cardiomyopathy: a European multicentre study, ESC HEART FAILURE, ISSN: 2055-5822
Krupickova S, Hatipoglu S, DiSalvo G, et al., 2021, Left ventricular noncompaction in pediatric population: could cardiovascular magnetic resonance derived fractal analysis aid diagnosis?, JOURNAL OF CARDIOVASCULAR MAGNETIC RESONANCE, Vol: 23, ISSN: 1097-6647
Audain E, Wilsdon A, Breckpot J, et al., 2021, Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease, PLOS GENETICS, Vol: 17, ISSN: 1553-7404
Norrish G, Topriceanu C, Qu C, et al., 2021, The role of the electrocardiographic phenotype in risk stratification for sudden cardiac death in childhood hypertrophic cardiomyopathy., Eur J Prev Cardiol
AIMS: The 12-lead electrocardiogram (ECG) is routinely performed in children with hypertrophic cardiomyopathy (HCM). An ECG risk score has been suggested as a useful tool for risk stratification, but this has not been independently validated. This aim of this study was to describe the ECG phenotype of childhood HCM in a large, international, multi-centre cohort and investigate its role in risk prediction for arrhythmic events. METHODS AND RESULTS: Data from 356 childhood HCM patients with a mean age of 10.1 years (±4.5) were collected from a retrospective, multi-centre international cohort. Three hundred and forty-seven (97.5%) patients had ECG abnormalities at baseline, most commonly repolarization abnormalities (n = 277, 77.8%); left ventricular hypertrophy (n = 240, 67.7%); abnormal QRS axis (n = 126, 35.4%); or QT prolongation (n = 131, 36.8%). Over a median follow-up of 3.9 years (interquartile range 2.0-7.7), 25 (7%) had an arrhythmic event, with an overall annual event rate of 1.38 (95% CI 0.93-2.04). No ECG variables were associated with 5-year arrhythmic event on univariable or multivariable analysis. The ECG risk score threshold of >5 had modest discriminatory ability [C-index 0.60 (95% CI 0.484-0.715)], with corresponding negative and positive predictive values of 96.7% and 6.7. CONCLUSION: In a large, international, multi-centre cohort of childhood HCM, ECG abnormalities were common and varied. No ECG characteristic, either in isolation or combined in the previously described ECG risk score, was associated with 5-year sudden cardiac death risk. This suggests that the role of baseline ECG phenotype in improving risk stratification in childhood HCM is limited.
Norrish G, Chubb H, Field E, et al., 2021, Clinical outcomes and programming strategies of implantable cardioverter-defibrillator devices in paediatric hypertrophic cardiomyopathy: a UK National Cohort Study, EUROPACE, Vol: 23, Pages: 400-408, ISSN: 1099-5129
Krupickova S, Risch J, Gati S, et al., 2021, Cardiovascular magnetic resonance normal values in children for biventricular wall thickness and mass, JOURNAL OF CARDIOVASCULAR MAGNETIC RESONANCE, Vol: 23, ISSN: 1097-6647
Cleary A, Chivers S, Daubeney PE, et al., 2021, Impact of COVID-19 on patients with congenital heart disease, CARDIOLOGY IN THE YOUNG, Vol: 31, Pages: 163-165, ISSN: 1047-9511
Crossland DS, Ferguson R, Magee A, et al., 2021, Consultant staffing in UK congenital cardiac services: a 10-year survey of leavers and joiners, OPEN HEART, Vol: 8, ISSN: 2053-3624
Sabatino J, Piccinelli E, Borrelli N, et al., 2020, Left ventricular twist predicts prognosis in children with non-compaction cardiomyopathy, 81st National Congress of the Italian-Society-of-Cardiology (SIC), Publisher: OXFORD UNIV PRESS, Pages: N42-N42, ISSN: 1520-765X
Michielon G, DiSalvo G, Fraisse A, et al., 2020, In-hospital interstage improves interstage survival after the Norwood stage 1 operation, EUROPEAN JOURNAL OF CARDIO-THORACIC SURGERY, Vol: 57, Pages: 1113-1121, ISSN: 1010-7940
Orban T, Orban NT, Jalahej H, et al., 2020, A Novel Quantitative Approach to Staging and Assessing Recovery from Type 1 Diabetes Mellitus: The Type 1 Diabetes Mellitus Metabolic Recovery Index, INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, Vol: 21
Lota AS, Halliday B, Tayal U, et al., 2019, Epidemiological Trends and Outcomes of Acute Myocarditis in the National Health Service of England, Scientific Sessions of the American-Heart-Association, Publisher: LIPPINCOTT WILLIAMS & WILKINS, ISSN: 0009-7322
Chivers SC, Pavy C, Vaja R, et al., 2019, The Ozaki procedure with cardioCel patch for children and young adults with aortic valve disease: preliminary experience - a word of caution, World Journal for Pediatric and Congenital Heart Surgery, Vol: 10, Pages: 724-730, ISSN: 2150-1351
Background:The Ozaki procedure is a surgical technique for patients with significant aortic stenosis or regurgitation or both where valve repair cannot be performed. Individual cusps are cut from glutaraldehyde-treated autologous pericardium or bovine pericardium and implanted into the aortic valve position. Encouraging results have been reported within the adult population. There are limited published data on success of this procedure in younger patients.Methods:We present a series of five children and young adults who underwent the Ozaki procedure with neoaortic valve cusps made from CardioCel, a decellularized bovine pericardial patch treated with a monomeric glutaraldehyde.Results:There were no complications in the initial postoperative period and short inpatient stay. At a mean follow-up of 29.6 months (range: 22-36 months), 4 patients had no evidence of stenosis and 3 patients had trivial or no regurgitation from the neoaortic valve. Overall, two patients had complications related to the valve and underwent reintervention during the follow-up period with a Ross procedure. One of these patients who was not taking long-term anticoagulation experienced a transient ischemic attack.Conclusions:Our experience demonstrates that the Ozaki procedure with CardioCel in pediatric and young adult patients should be approached with caution. Further research with larger groups of pediatric patients, comparison of different graft materials, and longer follow-up is required to ascertain long-term success in children.
Norrish G, Ding T, Field E, et al., 2019, A validation study of the European Society of Cardiology guidelines for risk stratification of sudden cardiac death in childhood hypertrophic cardiomyopathy, EUROPACE, Vol: 21, Pages: 1559-1565, ISSN: 1099-5129
Norrish G, Ding T, Field E, et al., 2019, Development of a Novel Risk Prediction Model for Sudden Cardiac Death in Childhood Hypertrophic Cardiomyopathy (HCM Risk-Kids), JAMA CARDIOLOGY, Vol: 4, Pages: 918-927, ISSN: 2380-6583
Sabatino J, Di Salvo G, Prota C, et al., 2019, Left Atrial Strain to Identify Diastolic Dysfunction in Children with Cardiomyopathies, JOURNAL OF CLINICAL MEDICINE, Vol: 8
Van Bergen NJ, Guo Y, Rankin J, et al., 2019, NAXDmutations cause a novel neurodegenerative disorder exacerbated by febrile illnesses, 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Publisher: NATURE PUBLISHING GROUP, Pages: 751-752, ISSN: 1018-4813
Eichhorn C, Voges I, Daubeney PEF, 2019, Out-of-hospital cardiac arrest and survival in a patient with Noonan syndrome and multiple lentigines: a case report, Journal of Medical Case Reports, Vol: 13, ISSN: 1752-1947
BACKGROUND: A 9-year-old Arabic boy attending middle school presented with an out-of-hospital cardiac arrest due to ventricular fibrillation recorded by Holter electrocardiographic monitoring. He had a background history of Noonan syndrome with multiple lentigines (also known as LEOPARD syndrome), a rare condition of autosomal dominant inheritance with approximately 200 cases reported worldwide. CASE PRESENTATION: Apart from characteristic features, the boy was known to have asymmetric septal hypertrophy with a maximum wall thickness of 24 mm measured by cardiovascular magnetic resonance imaging. A day prior to the event, he attended cardiology follow-up at our institution, and Holter monitoring was commenced. Following cardiopulmonary resuscitation by bystanders and paramedics, he reverted back into sinus rhythm after a total downtime of 24 min. He was initially treated in the intensive care unit and underwent implantable cardioverter defibrillator implantation. He has made a full recovery and remains at the top of his class. CONCLUSION: This case demonstrates that sudden cardiac arrest in patients with secondary forms of hypertrophic cardiomyopathy is not necessarily protected by apparently favorable phenotypes and that events may be preceded by non-sustained ventricular tachycardia observed by Holter monitoring. Implantable cardioverter defibrillator implantation plays a critical role in both primary and secondary prevention in patients at high risk of out-of-hospital cardiac arrest.
Krupickova S, Hatipoglu S, Di Salvo G, et al., 2019, Quantification of left ventricular trabeculations using fractal analysis in children, Publisher: OXFORD UNIV PRESS, Pages: 139-139, ISSN: 2047-2404
Fidalgo Garcia A, Ahmed R, Nyktari E, et al., 2019, Complicated coarctation repair: The importance of three-dimensional cross-sectional imaging in late postoperative assessment, ANNALS OF PEDIATRIC CARDIOLOGY, Vol: 12, Pages: 178-181, ISSN: 0974-2069
Sabatino J, Di Salvo G, Krupickova S, et al., 2019, Left Ventricular Twist Mechanics to Identify Left Ventricular Noncompaction in Childhood, CIRCULATION-CARDIOVASCULAR IMAGING, Vol: 12, ISSN: 1941-9651
Sri A, Daubeney P, Prasad S, et al., 2019, A case series on cardiac and skeletal involvement in two families with PRKAG2 mutations, Case Reports in Pediatrics, Vol: 2019, ISSN: 2090-6803
Background. PRKAG2 is a rare autosomal dominant syndrome that mainly presents with hypertrophic cardiomyopathy, ventricular preexcitation, and conduction abnormalities. This case report demonstrates that the PRKAG2 mutation presents with various phenotypes already in pediatric patients. Case Summary. We describe the clinical and investigative findings in two families with a PRKAG2 mutation from the different variants in the gene on chromosome 7q36.1, emphasising that the variability of phenotypes and that presentation in childhood is common. Furthermore, we highlight that skeletal myopathy and hypertrophic cardiomyopathy are significant debilitating characteristics of the PRKAG2 mutation. Conclusion. In our report of adult and pediatric patients, early presentation in childhood with hypertrophic cardiomyopathy and skeletal muscle involvement was common, demonstrating the challenges of the clinical management of PRKAG2 mutations.
Norrish G, Field E, Mcleod K, et al., 2019, Clinical presentation and survival of childhood hypertrophic cardiomyopathy: a retrospective study in United Kingdom, European Heart Journal, Vol: 40, Pages: 986-993, ISSN: 1522-9645
Aims: Understanding the spectrum of disease, symptom burden and natural history are essential for the management of children with hypertrophic cardiomyopathy (HCM). The effect of changing screening practices over time has not previously been studied. This study describes the clinical characteristics and outcomes of childhood HCM over four decades in a well-characterized United Kingdom cohort. Methods and results: Six hundred and eighty-seven patients with HCM presented at a median age of 5.2 years (range 0-16). Aetiology was: non-syndromic (n = 433, 63%), RASopathy (n = 126, 18.3%), Friedreich's ataxia (n = 59, 8.6%) or inborn errors of metabolism (IEM) (n = 64, 9%). In infants (n = 159, 23%) underlying aetiology was more commonly a RASopathy (42% vs. 11.2%, P < 0.0001) or IEM (18.9% vs. 6.4% P < 0.0001). In those with familial disease, median age of presentation was higher (11 years vs. 6 years, P < 0.0001), 141 (58%) presented <12 years. Freedom from death or transplantation was 90.6% (87.9-92.7%) at 5 years (1.5 per 100 patient years) with no era effect. Mortality was most frequently sudden cardiac death (SCD) (n = 20, 2.9%). Children diagnosed during infancy or with an IEM had a worse prognosis (5-year survival 80.5% or 66.4%). Arrhythmic events occurred at a rate of 1.2 per 100 patient years and were more likely in non-syndromic patients (n = 51, 88%). Conclusion: This national study describes a heterogeneous disease whose outcomes depend on the age of presentation and aetiology. Overall mortality and SCD rates have not changed over time, but they remain higher than in adults with HCM, with events occurring in syndromic and non-syndromic patients.
Van Bergen NJ, Guo Y, Rankin J, et al., 2019, NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses, BRAIN, Vol: 142, Pages: 50-58, ISSN: 0006-8950
Sabatino J, Daubeney P, Fraisse A, et al., 2018, Left Atrial Strain Classification of Diastolic Dysfunction in Pediatric Cardiomyopathies, Publisher: LIPPINCOTT WILLIAMS & WILKINS, ISSN: 0009-7322
Sabatino J, Prota C, Bucciarelli V, et al., 2018, Left ventricular twist for the diagnosis of left ventricular non-compaction in children and young adults, European-Society-of-Cardiology Congress, Publisher: OXFORD UNIV PRESS, Pages: 152-152, ISSN: 0195-668X
Naqvi N, Doughty VL, Starling L, et al., 2018, Hypoxic challenge testing (Fitness to Fly) in children with complex congenital heart disease, Heart, Vol: 104, Pages: 1333-1338, ISSN: 1355-6037
OBJECTIVE: Commercial airplanes fly with an equivalent cabin fraction of inspired oxygen of 0.15, leading to reduced oxygen saturation (SpO2) in passengers. How this affects children with complex congenital heart disease (CHD) is unknown. We conducted Hypoxic Challenge Testing (HCT) to assess need for inflight supplemental oxygen. METHODS: Children aged <16 years had a standard HCT. They were grouped as (A) normal versus abnormal baseline SpO2(≥95% vs <95%) and (B) absence versus presence of an actual/potential right-to-left (R-L) shunt. We measured SpO2, heart rate, QT interval corrected for heart rate and partial pressure of carbon dioxide measured transcutaneously (PtcCO2). A test failed when children with (1) normal baseline SpO2desaturated to 85%, (2) baseline SpO285%-94% desaturated by 15% of baseline; and (3) baseline SpO275%-84% desaturated to 70%. RESULTS: There were 68 children, mean age 3.3 years (range 10 weeks-14.5 years). Children with normal (n=36) baseline SpO2desaturated from median 99% to 91%, P<0.0001, and 3/36 (8%) failed the test. Those with abnormal baseline SpO2(n=32) desaturated from median 84% to 76%, P<0.0001, and 5/32 (16%) failed (no significant difference between groups). Children with no R-L shunt (n=25) desaturated from median 99% to 93%, P<0.0001, but 0/25 failed. Those with an actual/potential R-L shunt (n=43) desaturated from median 87% to 78%, P<0.0001, and 8/43 (19%) failed (difference between groups P<0.02). PtcCO2, heart rate and QT interval corrected for heart rate were unaffected by the hypoxic state. CONCLUSIONS: This is the first evidence to help guide which children with CHD need a preflight HCT. We suggest all children with an actual or potential R-L shunt should be tested.
Shi WY, Moreno-Betancur M, Nugent AW, et al., 2018, Long-term outcomes of childhood left ventricular non-compaction cardiomyopathy: results from a national population-based study, Circulation, Vol: 138, Pages: 138-367, ISSN: 0009-7322
Background -Long-term outcomes for childhood left ventricular non-compaction (LVNC) are uncertain. We examined late outcomes for children with LVNC enrolled in a national population-based study. Methods -The National Australian Childhood Cardiomyopathy Study includes all children in Australia with primary cardiomyopathy diagnosed <10 years of age between 1987 and 1996. Outcomes for LVNC subjects with a dilated phenotype (LVNC-D) were compared to those with dilated cardiomyopathy (DCM). Propensity-score analysis was used for risk factor adjustment. Results -There were 29 subjects with LVNC (9.2% of all cardiomyopathy subjects) with a mean annual incidence of newly diagnosed cases of 0.11 per 100,000 at-risk persons. Congestive heart failure was the initial symptom in 24 (83%) of 29 subjects, and 27 (93%) had a dilated phenotype (LVNC-D). The median age at diagnosis was 0.3 (interquartile interval 0.08 - 1.3) years of age. The median (interquartile interval) duration of follow-up was 6.8 (0.7-14.1) years for all subjects and 24.7 (23.3 - 27.7) years for surviving subjects. Freedom from death or transplantation was 48% (95% CI 30 - 65%) at 10 years after diagnosis and 45% (95% CI 27-63%) at 15 years. By competing risk analysis, 21% of LVNC subjects were alive with normal LV systolic function and 31% were alive with abnormal function at 15 years. Propensity-score matching between LVNC-D and DCM subjects suggested a lower freedom from death/transplantation at 15 years after diagnosis in the LVNC-D subjects (LVNC-D: 46% (95% CI 26-66%) vs. DCM: 70% (95% CI 42-97%), p=0.08). Using propensity-score inverse probability of treatment weighted Cox regression, we found evidence that LVNC-D was associated with a greater risk of death or transplantation (HR 2.3, 95% CI 1.4-3.8, p=0.0012). Conclusions -Symptomatic children with LVNC usu
Alexander PMA, Nugent AW, Daubeney PEF, et al., 2018, Long-term outcomes of hypertrophic cardiomyopathy diagnosed during childhood: results from a national population-based study, Circulation, Vol: 138, Pages: 29-36, ISSN: 0009-7322
Background -Late survival and symptomatic status of children with hypertrophic cardiomyopathy (HCM) have not been well defined. We examined long-term outcomes for pediatric HCM. Methods -The National Australian Childhood Cardiomyopathy Study is a longitudinal population-based cohort study of children (0-10 years) diagnosed with cardiomyopathy between 1987 and 1996. The primary study end-point was time to death or cardiac transplantation. Results -There were 80 patients with HCM with median age at diagnosis of 0.48 (Inter-quartile range [IQR] 0.1, 2.5) years. Freedom from death/transplantation (95% confidence interval [CI]) was 86 (77-92)% one year after presentation, 80 (69-87)% at 10 years and 78 (67-86)% at 20 years. From multivariable analyses, risk factors for death/transplantation included symmetric left ventricular hypertrophy at the time of diagnosis (hazard ratio [HR] 4.20 95%CI 1.60, 11.05 p=0.004), Noonan syndrome (HR 2.88, 95%CI 1.02, 8.08, p=0.045), higher posterior wall thickness z-score (HR 1.45, 95%CI 1.22, 1.73, p<0.001) and lower fractional shortening z-score (HR 0.84, 95%CI 0.74, 0.95, p=0.005) during follow-up. Nineteen (23%) subjects underwent left ventricular myectomy. At median 15.7 years' follow-up, 27 (42%) of 63 survivors were treated with beta-blocker and 13 (21%) had an implantable cardioverter-defibrillator. Conclusions -The highest risk of death or transplantation for children with HCM is within one year post-diagnosis, with low attrition rates thereafter. Many subjects receive medical, surgical or device therapy.
Lota A, Fazal S, Wassall R, et al., 2018, NATIONAL TRENDS IN THE EPIDEMIOLOGY OF HOSPITAL ADMISSIONS FOR ACUTE MYOCARDITIS: INSIGHTS FROM THE UK NATIONAL HEALTH SERVICE, 67th Annual Scientific Session and Expo of the American-College-of-Cardiology (ACC), Publisher: ELSEVIER SCIENCE INC, Pages: 875-875, ISSN: 0735-1097
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