Imperial College London

DrPiersDaubeney

Faculty of MedicineNational Heart & Lung Institute

Professor of Practice (Paediatric Cardiology)
 
 
 
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Contact

 

+44 (0)20 7351 8430p.daubeney

 
 
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Location

 

Royal BromptonRoyal Brompton Campus

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Summary

 

Publications

Publication Type
Year
to

137 results found

Norrish G, Ding T, Field E, McLeod K, Ilina M, Stuart G, Bhole V, Uzun O, Brown E, Daubeney PEF, Lota A, Linter K, Mathur S, Bharucha T, Kok KL, Adwani S, Jones CB, Reinhardt Z, Omar RZ, Kaski JPet 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

Journal article

Norrish G, Ding T, Field E, Ziolkowska L, Olivotto I, Limongelli G, Anastasakis A, Weintraub R, Biagini E, Ragni L, Prendiville T, Duignan S, McLeod K, Ilina M, Fernandez A, Boekenkamp R, Baban A, Kubus P, Daubeney PEF, Sarquella-Brugada G, Cesar S, Marrone C, Bhole V, Medrano C, Uzun O, Brown E, Gran F, Castro FJ, Stuart G, Vignati G, Barriales-Villa R, Guereta LG, Adwani S, Linter K, Bharucha T, Garcia-Pavia P, Rasmussen TB, Calcagnino MM, Jones CB, De Wilde H, Toru-Kubo J, Felice T, Mogensen J, Mathur S, Reinhardt Z, O'Mahony C, Elliott PM, Omar RZ, Kaski JPet 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

Journal article

Sabatino J, Di Salvo G, Prota C, Bucciarelli V, Josen M, Paredes J, Borrelli N, Sirico D, Prasad S, Indolfi C, Fraisse A, Daubeney PEFet al., 2019, Left Atrial Strain to Identify Diastolic Dysfunction in Children with Cardiomyopathies, JOURNAL OF CLINICAL MEDICINE, Vol: 8

Journal article

Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte J, Ellaway CJ, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra SD, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor R, Christodoulou J, Linster C, Ellard S, Hakonarson Het 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

Conference paper

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.

Journal article

Fidalgo Garcia A, Ahmed R, Nyktari E, Daubeney P, Voges Iet 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

Journal article

Sabatino J, Di Salvo G, Krupickova S, Fraisse A, Prota C, Bucciarelli V, Josen M, Paredes J, Sirico D, Voges I, Indolfi C, Prasad S, Daubeney Pet al., 2019, Left Ventricular Twist Mechanics to Identify Left Ventricular Noncompaction in Childhood, CIRCULATION-CARDIOVASCULAR IMAGING, Vol: 12, ISSN: 1941-9651

Journal article

Sri A, Daubeney P, Prasad S, Baksi J, Kinali M, Voges Iet al., 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.

Journal article

Norrish G, Field E, Mcleod K, Ilina M, Stuart G, Bhole V, Uzun O, Brown E, Daubeney PEF, Lota A, Linter K, Mathur S, Bharucha T, Kok KL, Adwani S, Jones CB, Reinhardt Z, Kaski JPet 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.

Journal article

Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte J-F, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra S, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor RW, Christodoulou J, Linster CL, Ellard S, Hakonarson Het 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

Journal article

Sabatino J, Prota C, Bucciarelli V, Sirico D, Daubeney P, Voges I, Krupickova S, Pernia MU, Paredes J, Josen M, Di Salvo Get 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

Conference paper

Naqvi N, Doughty VL, Starling L, Franklin RC, Ward S, Daubeney PEF, Balfour-Lynn IMet 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.

Journal article

Shi WY, Moreno-Betancur M, Nugent AW, Cheung M, Colan S, Turner C, Sholler GF, Robertson T, Justo R, Bullock A, King I, Davis AM, Daubeney PEF, Weintraub RG, for the National Australian Childhood Cardiomyopathy Studyet 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

Journal article

Alexander PMA, Nugent AW, Daubeney PEF, Lee KJ, Sleeper LA, Schuster T, Turner C, Davis AM, Semsarian C, Colan SD, Robertson T, Ramsay J, Justo R, Sholler GF, King I, Weintraub RG, National Australian Childhood Cardiomyopathy Studyet 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.

Journal article

Lota A, Fazal S, Wassall R, Puvanasingam P, Shakur R, Halliday B, Tayal U, Ware J, Cleland J, Daubeney P, Pennell D, Banner N, Mohiddin S, Cook S, Prasad Set 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

Conference paper

Sri A, Voges I, Daubeney P, Prasad Set al., 2018, IDENTIFICATION OF A CAUSAL DIAGNOSIS FOR CHILDREN WITH DILATED CARDIOMYOPATHY, Annual Meeting of the British-Congenital-Cardiac-Association, Publisher: BMJ PUBLISHING GROUP, Pages: A15-A16, ISSN: 1355-6037

Conference paper

Quail M, Daubeney PEF, 2018, Pulmonary Atresia with Intact Ventricular Septum, Anderson’s Pediatric cardiology (4th edition), Editors: Wernovsky, Redington, Anderson

Book chapter

Naqvi N, Doughty VL, Starling L, Franklin R, Ward S, Daubeney PEF, Balfour-Lynn IMet al., 2017, CHILDREN WITH COMPLEX CONGENITAL HEART DISEASE: WHO NEEDS A PRE-FLIGHT HYPOXIC CHALLENGE TEST?, Winter Meeting of the British-Thoracic-Society, Publisher: BMJ PUBLISHING GROUP, Pages: A126-A126, ISSN: 0040-6376

Conference paper

Tayal U, Newsome S, Buchan R, Whiffin N, Halliday B, Lota A, Roberts A, Baksi AJ, Voges I, Midwinter W, Wilk A, Govind R, Walsh R, Daubeney P, Jarman JWE, Baruah R, Frenneaux M, Barton PJ, Pennell D, Ware JS, Prasad SK, Cook SAet al., 2017, Phenotype and Clinical Outcomes of Titin Cardiomyopathy, Journal of the American College of Cardiology, Vol: 70, Pages: 2264-2274, ISSN: 0735-1097

Background Improved understanding of dilated cardiomyopathy (DCM) due to titin truncation (TTNtv) may help guide patient stratification.Objectives The purpose of this study was to establish relationships among TTNtv genotype, cardiac phenotype, and outcomes in DCM.Methods In this prospective, observational cohort study, DCM patients underwent clinical evaluation, late gadolinium enhancement cardiovascular magnetic resonance, TTN sequencing, and adjudicated follow-up blinded to genotype for the primary composite endpoint of cardiovascular death, and major arrhythmic and major heart failure events.Results Of 716 subjects recruited (mean age 53.5 ± 14.3 years; 469 men [65.5%]; 577 [80.6%] New York Heart Association function class I/II), 83 (11.6%) had TTNtv. Patients with TTNtv were younger at enrollment (49.0 years vs. 54.1 years; p = 0.002) and had lower indexed left ventricular mass (5.1 g/m2 reduction; padjusted = 0.03) compared with patients without TTNtv. There was no difference in biventricular ejection fraction between TTNtv+/− groups. Overall, 78 of 604 patients (12.9%) met the primary endpoint (median follow-up 3.9 years; interquartile range: 2.0 to 5.8 years), including 9 of 71 patients with TTNtv (12.7%) and 69 of 533 (12.9%) without. There was no difference in the composite primary outcome of cardiovascular death, heart failure, or arrhythmic events, for patients with or without TTNtv (hazard ratio adjusted for primary endpoint: 0.92 [95% confidence interval: 0.45 to 1.87]; p = 0.82).Conclusions In this large, prospective, genotype-phenotype study of ambulatory DCM patients, we show that prognostic factors for all-cause DCM also predict outcome in TTNtv DCM, and that TTNtv DCM does not appear to be associated with worse medium-term prognosis.

Journal article

Delle Donne G, Ros├ęs Noguer F, Till J, Salukhe T, Prasad SK, Daubeney PEFet al., 2017, Ivabradine in Postural Orthostatic Tachycardia Syndrome: Preliminary Experience in Children., Am J Cardiovasc Drugs

OBJECTIVE: Ivabradine is a selective and specific inhibitor of the I(f) current in the sinoatrial and atrioventricular nodes. It decreases heart rate and myocardial oxygen consumption at rest and during exercise. It is used in adults for management of heart failure and angina, but promising results have been obtained in postural orthostatic tachycardia syndrome (POTS). There is little experience of ivabradine in childhood, although it is used on a compassionate basis. Our aim was to review our experience of ivabradine in a retrospective evaluation of pediatric patients with POTS. METHODS: We evaluated all patients younger than 18 years for whom ivabradine had been prescribed for this indication, from February 2008 to June 2014. RESULTS: Twenty-two patients were identified (15 female). Median age was 14.5 years (11-17 years). The ivabradine dosage after up-titration was 0.1 mg/kg per dose twice daily. In 15 (68%) symptoms improved. Ivabradine was suspended in five, but only in one for worsening of symptoms. There was a reduction in heart rate on resting electrocardiogram (EKG) from a mean (standard deviation) of 82.5 (13.6) bpm to a mean of 71 (16.5) bpm (p = 0.007). No patient had increased duration of QTc (p = 0.44). One (4.5%) experienced phosphenes. CONCLUSIONS: From this initial experience, ivabradine is safe in patients younger than 18 years with POTS. We observed improvement of symptoms in 68% and phosphenes in less than 5%. Further studies are needed to assess the safety in a randomized control setting.

Journal article

Bonnet D, Berger F, Jokinen E, Kantor PF, Daubeney PEFet al., 2017, Ivabradine in Children With Dilated Cardiomyopathy and Symptomatic Chronic Heart Failure, Journal of the American College of Cardiology, Vol: 70, Pages: 1262-1272, ISSN: 0735-1097

BackgroundHeart rate reduction as a therapeutic target has been investigated in adults with heart failure (HF). Ivabradine has shown promising efficacy, but has not been evaluated in children. Currently, treatment recommendations for chronic pediatric HF are based mainly on chronic HF guidelines for adults.ObjectivesThe authors explored the dose-response relationship of ivabradine in children with dilated cardiomyopathy and symptomatic chronic HF. The primary endpoint was ≥20% reduction in heart rate from baseline without inducing bradycardia or symptoms.MethodsThis was a randomized, double-blind, placebo-controlled, phase II/III study with 12 months of follow-up. Children (n = 116) receiving stable HF therapy were randomized to either ivabradine or placebo. After an initial titration period, the dose was adjusted to attain the primary endpoint. Left ventricular function (echocardiography), clinical status (New York Heart Association functional class or Ross class), N-terminal pro–B-type natriuretic peptide, and quality of life (QOL) were assessed.ResultsThe primary endpoint was reached by 51 of 73 children taking ivabradine (70%) versus 5 of 41 taking placebo (12%) at varying doses (odds ratio: 17.24; p < 0.0001). Between baseline and 12 months, there was a greater increase in left ventricular ejection fraction in patients taking ivabradine than placebo (13.5% vs. 6.9%; p = 0.024). New York Heart Association functional class or Ross class improved more with ivabradine at 12 months than placebo (38% vs. 25%; p = 0.24). There was a trend toward improvement in QOL for ivabradine versus placebo (p = 0.053). N-terminal pro–B-type natriuretic peptide levels decreased similarly in both groups. Adverse events were reported at similar frequencies for ivabradine and placebo.ConclusionsIvabradine safely reduced the resting heart rate of children with chronic HF and dilated cardiomyopathy. Ivabradine’s effect on heart rate was variable, highlighting the

Journal article

Shi W, Daubeney P, Nugent A, Sholler G, Justo R, Ramsay J, Robertson T, Betancur M, Davis A, Colan S, King I, Weintraub Ret al., 2017, Long-term outcomes of childhood left ventricular non-compaction: results from a national population-based study, 66th Annual Scientific Session and Expo of the American-College-of-Cardiology (ACC), Publisher: Elsevier, Pages: 845-845, ISSN: 0735-1097

Conference paper

Forty-one authors, 2017, Diagnosis and Management of Adult Congenital Heart Disease (3rd edition), Publisher: Elsevier, ISBN: 978-0-7020-6929-1

Book

Daubeney PEF, Quail MA, 2017, Pulmonary atresia with intact ventricular septum, Diagnosis and Management of Adult Congenital Heart Disease (3rd edition), Editors: Gatzoulis, Webb, Daubeney, ISBN: 978-0-7020-6929-1

Book chapter

Quail MA, Ho Y, Daubeney PEF, 2017, Vascular rings, Pulmonary Slings and Other Vascular Abnormalities, Diagnosis and Management of Adult Congenital heart Disease, Editors: Gatzoulis, Webb, Daubeney, ISBN: 978-0-7020-6929-1

Book chapter

rea G, Homfray T, Till J, Roses-Noguer F, Buchan RJ, Wilkinson S, Wilk A, Walsh R, John S, McKee S, Stewart FJ, Murday V, Taylor RW, Ashworth M, Baksi AJ, Daubeney P, Prasad S, Barton PJR, Cook SA, ware JSet al., 2016, Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11, Cold Spring Harbor Molecular Case Studies, Vol: 3, ISSN: 2373-2873

Variants in NDUFB11, which encodes a structural component of complex I of the mitochondrial respiratory chain (MRC), were recently independently reported to cause histiocytoid cardiomyopathy (histiocytoid CM) and microphthalmia with linear skin defects syndrome (MLS syndrome). Here we report an additional case of histiocytoid CM, which carries a de novo nonsense variant in NDUFB11 (ENST00000276062.8: c.262C > T; p.[Arg88*]) identified using whole-exome sequencing (WES) of a family trio. An identical variant has been previously reported in association with MLS syndrome. The case we describe here lacked the diagnostic features of MLS syndrome, but a detailed clinical comparison of the two cases revealed significant phenotypic overlap. Heterozygous variants in HCCS (which encodes an important mitochondrially targeted protein) and COX7B, which, like NDUFB11, encodes a protein of the MRC, have also previously been identified in MLS syndrome including a case with features of both MLS syndrome and histiocytoid CM. However, a systematic review of WES data from previously published histiocytoid CM cases, alongside four additional cases presented here for the first time, did not identify any variants in these genes. We conclude that NDUFB11 variants play a role in the pathogenesis of both histiocytoid CM and MLS and that these disorders are allelic (genetically related).

Journal article

Sifrim A, Hitz M-P, Wilsdon A, Breckpot J, Al Turki SH, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, Prigmore E, Rajan D, Abdul-Khaliq H, Banka S, Bauer UMM, Bentham J, Berger F, Bhattacharya S, Bu'Lock F, Canham N, Colgiu I-G, Cosgrove C, Cox H, Daehnert I, Daly A, Danesh J, Fryer A, Gewillig M, Hobson E, Hoff K, Homfray T, Kahlert A-K, Ketley A, Kramer H-H, Lachlan K, Lampe AK, Louw JJ, Manickara AK, Manase D, McCarthy KP, Metcalfe K, Moore C, Newbury-Ecob R, Omer SO, Ouwehand WH, Park S-M, Parker MJ, Pickardt T, Pollard MO, Robert L, Roberts DJ, Sambrook J, Setchfield K, Stiller B, Thornborough C, Toka O, Watkins H, Williams D, Wright M, Mital S, Daubeney PEF, Keavney B, Goodship J, Abu-Sulaiman RM, Klaassen S, Wright CF, Firth HV, Barrett JC, Devriendt K, FitzPatrick DR, Brook JD, Hurles MEet al., 2016, Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing, Nature Genetics, Vol: 48, Pages: 1060-1065, ISSN: 1061-4036

Congenital heart defects (CHDs) have a neonatal incidence of 0.8–1% (refs. 1,2). Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk (~2.7%)3, suggesting a considerable role for de novo mutations (DNMs) and/or incomplete penetrance4, 5. De novo protein-truncating variants (PTVs) have been shown to be enriched among the 10% of 'syndromic' patients with extra-cardiac manifestations6, 7. We exome sequenced 1,891 probands, including both syndromic CHD (S-CHD, n = 610) and nonsyndromic CHD (NS-CHD, n = 1,281). In S-CHD, we confirmed a significant enrichment of de novo PTVs but not inherited PTVs in known CHD-associated genes, consistent with recent findings8. Conversely, in NS-CHD we observed significant enrichment of PTVs inherited from unaffected parents in CHD-associated genes. We identified three genome-wide significant S-CHD disorders caused by DNMs in CHD4, CDK13 and PRKD1. Our study finds evidence for distinct genetic architectures underlying the low sibling recurrence risk in S-CHD and NS-CHD.

Journal article

Schofield SJ, Doughty VL, van Stiphout N, Franklin RC, Johnson MR, Daubeney PE, Cullinan Pet al., 2016, Assisted conception and the risk of CHD: a case-control study, Cardiology in the Young, Vol: 27, Pages: 473-479, ISSN: 1467-1107

Epidemiological studies suggest a higher prevalence of congenital malformations in children conceived through assisted reproductive technologies. There are a few studies that address CHD specifically and most have examined data from registries. We examined the relationship between CHD and assisted conception using data collected in a specialist paediatric cardiac service in the United Kingdom. Between April, 2010 and July, 2011, the parents of children attending paediatric cardiology clinics at the Royal Brompton Hospital, London, were invited to complete a questionnaire that enquired about the nature of their child's conception, the route for their original referral, and a number of potential confounding exposures. "Cases" were defined as children diagnosed with one or more carefully defined CHDs and "controls" as those with normal hearts. Of 894 new attendees with complete data, half of them were cases (n=410, 45.9%). The overall prevalence of assisted conception was 5.4% (n=44). Logistic regression analysis demonstrated a non-significant increase in the crude odds for the use of assisted reproduction (odds ratio 1.21, 95% confidence interval 0.66-2.22) in this group. After adjustment for gestation, parity, year of birth, and maternal age, the odds ratio reduced (odds ratio 0.95, 95% confidence interval 0.48-1.88). Increased rates of assisted conception were observed in a number of CHD subgroups, although no significant differences were found. These findings do not suggest an overall association between CHD and assisted reproduction in this population.

Journal article

Delle Donne G, Prasad S, Kimberley P, Daubeney P, Sheppard Met al., 2016, SUDDEN CARDIAC DEATH IN CHILDHOOD, 65th Annual Scientific Session and Expo of the American-College-of-Cardiology (ACC), Publisher: ELSEVIER SCIENCE INC, Pages: 812-812, ISSN: 0735-1097

Conference paper

Delle Donne G, Roses-Noguer F, Till J, Salukhe T, Prasad S, Daubeney Pet al., 2016, IVABRADINE IN THE PAEDIATRIC POPULATION: PRELIMINARY FINDINGS, 65th Annual Scientific Session and Expo of the American-College-of-Cardiology (ACC), Publisher: ELSEVIER SCIENCE INC, Pages: 774-774, ISSN: 0735-1097

Conference paper

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