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1. Response of the oxygen pulse during exercise in children with atrial repair for transposition of the great arteries

Author

Buys R, Dockx K, Gewillig M, and Reybrouck T

Subjects
Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Roselien Buys,1,2,* Kimberly Dockx,1,* Marc Gewillig,3 Tony Reybrouck1,21Department of Rehabilitation Sciences, 2Department of Cardiovascular Rehabilitation, University of Leuven, Leuven, Belgium; 3Department of Pediatric Cardiology, University Hospital Gasthuisberg, Leuven, Belgium*These authors contributed equally to this paperBackground: The oxygen pulse equals stroke volume times arterial–venous oxygen difference and is calculated by dividing oxygen uptake (VO2) by heart rate (HR). In children with a Senning repair for the transposition of the great arteries (TGA), the response of both HR and VO2 to exercise is impaired. Our aim was to assess the oxygen pulse response during exercise in patients who underwent a Senning operation, comparing it with healthy controls.Methods: Twenty-one children with a Senning repair (mean age 12.5 ± 1.7 years) and a control group of 31 healthy children (mean age 13.2 ± 2.0 years) performed a graded maximal exercise test on a treadmill, during which HR and VO2 were measured. Oxygen pulse was calculated by dividing VO2 by HR. Right ventricular function was quantitatively assessed by cardiac ultrasound.Results: Senning patients had a lower peak oxygen pulse than the control (P = 0.0024) (8.45 ± 1.90 mL • beats-1 versus 11.7 ± 3.93 mL • beats-1), as with the peak VO2 (P < 0.001) (35.8 ± 5.67 mL • min-1 • kg-1 versus 46.6 ± 8.02 mL • min-1 • kg-1) and peak HR (171 ± 14 beats • min-1 versus 188 ± 11 beats • min-1). During submaximal exercise, oxygen pulse and VO2 were also significantly lower in Senning patients when compared to the control group (P = 0.027). In seven Senning patients (33%), the oxygen pulse did not increase any further after the first exercise levels. These patients had lower right ventricular function compared to the control group (P = 0.04).Conclusion: Children with a Senning repair for TGA have a reduced peak VO2, peak HR, and peak oxygen pulse. Their oxygen pulse starts off at a lower level, reaches its plateau earlier, and is related to right ventricular function. This variable can be considered a complementary parameter to assess cardiovascular exercise performance.Keywords: transposition of the great arteries, Senning repair, oxygen pulse, cardiopulmonary exercise testing

Published
2012

2. Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

Author

Škorić-Milosavljević, D, Tadros, R, Bosada, FM, Tessadori, F, van Weerd, JH, Woudstra, OI, Tjong, FVY, Lahrouchi, N, Bajolle, F, Cordell, HJ, Agopian, AJ, Blue, GM, Barge-Schaapveld, DQCM, Gewillig, M, Preuss, C, Lodder, EM, Barnett, P, Ilgun, A, Beekman, L, van Duijvenboden, K, Bokenkamp, R, Müller-Nurasyid, M, Vliegen, HW, Konings, TC, van Melle, JP, van Dijk, APJ, van Kimmenade, RRJ, Roos-Hesselink, JW, Sieswerda, GT, Meijboom, F, Abdul-Khaliq, H, Berger, F, Dittrich, S, Hitz, M-P, Moosmann, J, Riede, F-T, Schubert, S, Galan, P, Lathrop, M, Munter, HM, Al-Chalabi, A, Shaw, CE, Shaw, PJ, Morrison, KE, Veldink, JH, van den Berg, LH, Evans, S, Nobrega, MA, Aneas, I, Radivojkov-Blagojević, M, Meitinger, T, Oechslin, E, Mondal, T, Bergin, L, Smythe, JF, Altamirano-Diaz, L, Lougheed, J, Bouma, BJ, Chaix, M-A, Kline, J, Bassett, AS, Andelfinger, G, van der Palen, RLF, Bouvagnet, P, Clur, S-AB, Breckpot, J, Kerstjens-Frederikse, WS, Winlaw, DS, Bauer, UMM, Mital, S, Goldmuntz, E, Keavney, B, Bonnet, D, Mulder, BJ, Tanck, MWT, Bakkers, J, Christoffels, VM, Boogerd, CJ, Postma, AV, Bezzina, CR, Hubrecht Institute for Developmental Biology and Stem Cell Research, Cardiology, Cardiovascular Centre (CVC), Medical Biology, ACS - Heart failure & arrhythmias, ACS - Pulmonary hypertension & thrombosis, Human Genetics, Amsterdam Reproduction & Development (AR&D), Amsterdam Cardiovascular Sciences, General Paediatrics, Paediatric Cardiology, APH - Aging & Later Life, APH - Personalized Medicine, Epidemiology and Data Science, APH - Methodology, Pediatric surgery, and Physiology

Subjects
Genome-wide association study, Multifactorial Inheritance, congenital, hereditary, and neonatal diseases and abnormalities, Cardiac & Cardiovascular Systems, Physiology, Transposition of Great Vessels, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], ZIC3 MUTATIONS, DE-NOVO, Polymorphism, Single Nucleotide, Wnt-5a Protein, Article, Mice, OF-FUNCTION MUTATIONS, Congenital Heart Disease, Genome-wide Association Study, Single Nucleotide Polymorphism, Transposition Of Great Vessels, Animals, Humans, MALFORMATIONS, Myocytes, Cardiac, GENOME-WIDE ASSOCIATION, Transposition of great vessels, Cells, Cultured, Zebrafish, Congenital heart disease, WNT5A MUTATIONS, Science & Technology, HERITABILITY, Wnt-5a protein, Hematology, DEFECTS, Single nucleotide polymorphism, CONGENITAL HEART-DISEASE, Peripheral Vascular Disease, Cardiovascular System & Cardiology, HYPOPLASTIC LEFT-HEART, T-Box Domain Proteins, Cardiology and Cardiovascular Medicine, Life Sciences & Biomedicine
Abstract

Rationale: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majority of D-TGA cases remain genetically elusive. Familial recurrence patterns and the observation that most cases with D-TGA are sporadic suggest a polygenic inheritance for the disorder, yet this remains unexplored. Objective: We sought to study the role of common single nucleotide polymorphisms (SNPs) in risk for D-TGA. Methods and Results: We conducted a genome-wide association study in an international set of 1,237 patients with D-TGA and identified a genome-wide significant susceptibility locus on chromosome 3p14.3, which was subsequently replicated in an independent case-control set (rs56219800, meta-analysis P=8.6x10 -10 , OR=0.69 per C allele). SNP-based heritability analysis showed that 25% of variance in susceptibility to D-TGA may be explained by common variants. A genome-wide polygenic risk score derived from the discovery set was significantly associated to D-TGA in the replication set (P=4x10 -5 ). The genome-wide significant locus (3p14.3) co-localizes with a putative regulatory element that interacts with the promoter of WNT5A , which encodes the Wnt Family Member 5A protein known for its role in cardiac development in mice. We show that this element drives reporter gene activity in the developing heart of mice and zebrafish and is bound by the developmental transcription factor TBX20. We further demonstrate that TBX20 attenuates Wnt5a expression levels in the developing mouse heart. Conclusions: This work provides support for a polygenic architecture in D-TGA and identifies a susceptibility locus on chromosome 3p14.3 near WNT5A . Genomic and functional data support a causal role of WNT5A at the locus.

Published
2022

4. Transcatheter closure of persistent ductus arteriosus in 2 to 6 kg infants: Preliminary results from an international, retrospective study

Author

Padovani, P., primary, Gewillig, M., additional, Butera, G., additional, Lucron, H., additional, Lefort, B., additional, Samion, H., additional, El Saiedi, S., additional, Ovaert, C., additional, Sirico, D., additional, Grunenwald Gronier, C., additional, Méot, M., additional, Benbrik, N., additional, Bonnet, D., additional, Malekzadeh-Milani, S., additional, and Baruteau, A.E., additional

Published
2022
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5. Orphan Medical Devices and Pediatric Cardiology - What Interventionists in Europe Need to Know, and What Needs to be Done

Author

Melvin T, Kenny D, Gewillig M, and Fraser AG

Subjects
Pediatrics, Perinatology and Child Health, Cardiology and Cardiovascular Medicine
Abstract

Medical devices include a great diversity of technologies, which are evaluated and approved in the European Union (EU) according to a revised law that came into effect on 26 May 2021, known as the Medical Device Regulation or MDR (EU 745/2017). It has a transition period that allows products that were approved under the previous rules (the EU Medical Device Directives) to continue to be marketed until 26 May 2024 at the latest. As a result of a series of unforeseen factors, there is a possibility that the MDR may result in products becoming unavailable, with the consequent risk of a loss of some interventions that are reliant upon those devices. Devices that are used for orphan or pediatric indications are particularly vulnerable to this. There is an urgent need for policy to be developed to protect essential medical devices for orphan indications and for use in children, to ensure that necessary interventions can continue, and to ensure a more sustainable system in Europe over the longer term. Pediatric cardiologists in Europe need to be aware that particular medical devices may become unavailable over the next two years, and they should contribute to plans to mitigate this risk, so that they can continue to deliver the best possible care for their patients. This commentary examines the factors which have contributed to this issue and suggests ways that policy can be developed to address it.Article title: Kindly check and confirm the edit made in the title.Title is okay.

Published
2022

6. Intellectual Abilities in a Large Sample of Children with Velo-Cardio-Facial Syndrome: An Update

Author

De Smedt, Bert, Devriendt, K., Fryns, J. -P, Vogels, A., Gewillig, M., and Swillen, A.

Abstract

Background: Learning disabilities are one of the most consistently reported features in Velo-Cardio-Facial Syndrome (VCFS). Earlier reports on IQ in children with VCFS were, however, limited by small sample sizes and ascertainment biases. The aim of the present study was therefore to replicate these earlier findings and to investigate intellectual abilities in a large sample of children with VCFS. In addition, we aimed to identify factors that may contribute to within-syndrome variability in cognitive performance, such as the mode of inheritance of the deletion, sex, the presence of a heart defect and psychiatric morbidity. Method: IQ data of 103 children with VCFS (56 males, 47 females) were collected. Psychiatric diagnosis was additionally recorded. Results: Children with VCFS had a mean full-scale IQ (FSIQ) of 73.48 (range: 50-109). There were no effects of sex, presence of a heart defect and psychiatric condition on intellectual profile. Inheritance of the deletion affected cognitive performance in VCFS, with children with familial deletions having significant lower FSIQ than children with a "de novo" deletion. Conclusions: Learning disabilities are very common in children with VCFS, although marked within syndrome variability is noted. One factor contributing to this variability seems to be the mode of inheritance of the deletion.

Published
2007
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7. Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

Author

Škorić-Milosavljević, D., Tadros, R., Bosada, F.M., Tessadori, F., Weerd, J.H. van, Woudstra, O.I., Tjong, F.V.Y., Lahrouchi, N., Bajolle, F., Cordell, H.J., Agopian, A.J., Blue, G.M., Barge-Schaapveld, D., Gewillig, M., Preuss, C., Lodder, E.M., Barnett, P., Ilgun, A., Beekman, L., Duijvenboden, K. van, Bokenkamp, R., Müller-Nurasyid, M., Vliegen, H.W., Konings, T.C., Melle, J.P. van, Dijk, A.P.J. van, Kimmenade, R.R.J. van, Roos-Hesselink, J.W., Sieswerda, G.T., Meijboom, F., Abdul-Khaliq, H., Berger, F, Dittrich, S., Hitz, M.P., Moosmann, J., Riede, F.T., Schubert, S., Galan, P., Lathrop, M., Munter, H.M., Al-Chalabi, A., Shaw, C.E., Shaw, P.J., Morrison, K.E., Veldink, J.H., Berg, L.H. van den, Evans, S., Nobrega, M.A., Aneas, I., Radivojkov-Blagojević, M., Meitinger, T., Oechslin, E., Mondal, T., Bergin, L., Smythe, J.F., Altamirano-Diaz, L., Lougheed, J., Bouma, B.J., Chaix, M.A., Kline, J., Bassett, A.S., Andelfinger, G., Palen, R.L.F. van der, Bouvagnet, P., Clur, S.B., Breckpot, J., Kerstjens-Frederikse, W.S., Winlaw, D.S., Bauer, U.M.M., Mital, S., Goldmuntz, E., Keavney, B., Bonnet, D., Mulder, B. J. M., Tanck, M.W.T., Bakkers, J., Christoffels, V.M., Boogerd, C.J., Postma, A.V., Bezzina, C.R., Škorić-Milosavljević, D., Tadros, R., Bosada, F.M., Tessadori, F., Weerd, J.H. van, Woudstra, O.I., Tjong, F.V.Y., Lahrouchi, N., Bajolle, F., Cordell, H.J., Agopian, A.J., Blue, G.M., Barge-Schaapveld, D., Gewillig, M., Preuss, C., Lodder, E.M., Barnett, P., Ilgun, A., Beekman, L., Duijvenboden, K. van, Bokenkamp, R., Müller-Nurasyid, M., Vliegen, H.W., Konings, T.C., Melle, J.P. van, Dijk, A.P.J. van, Kimmenade, R.R.J. van, Roos-Hesselink, J.W., Sieswerda, G.T., Meijboom, F., Abdul-Khaliq, H., Berger, F, Dittrich, S., Hitz, M.P., Moosmann, J., Riede, F.T., Schubert, S., Galan, P., Lathrop, M., Munter, H.M., Al-Chalabi, A., Shaw, C.E., Shaw, P.J., Morrison, K.E., Veldink, J.H., Berg, L.H. van den, Evans, S., Nobrega, M.A., Aneas, I., Radivojkov-Blagojević, M., Meitinger, T., Oechslin, E., Mondal, T., Bergin, L., Smythe, J.F., Altamirano-Diaz, L., Lougheed, J., Bouma, B.J., Chaix, M.A., Kline, J., Bassett, A.S., Andelfinger, G., Palen, R.L.F. van der, Bouvagnet, P., Clur, S.B., Breckpot, J., Kerstjens-Frederikse, W.S., Winlaw, D.S., Bauer, U.M.M., Mital, S., Goldmuntz, E., Keavney, B., Bonnet, D., Mulder, B. J. M., Tanck, M.W.T., Bakkers, J., Christoffels, V.M., Boogerd, C.J., Postma, A.V., and Bezzina, C.R.

Abstract

Item does not contain fulltext, RATIONALE: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majority of D-TGA cases remain genetically elusive. Familial recurrence patterns and the observation that most cases with D-TGA are sporadic suggest a polygenic inheritance for the disorder, yet this remains unexplored. OBJECTIVE: We sought to study the role of common single nucleotide polymorphisms (SNPs) in risk for D-TGA. METHODS AND RESULTS: We conducted a genome-wide association study in an international set of 1,237 patients with D-TGA and identified a genome-wide significant susceptibility locus on chromosome 3p14.3, which was subsequently replicated in an independent case-control set (rs56219800, meta-analysis P=8.6x10(-10), OR=0.69 per C allele). SNP-based heritability analysis showed that 25% of variance in susceptibility to D-TGA may be explained by common variants. A genome-wide polygenic risk score derived from the discovery set was significantly associated to D-TGA in the replication set (P=4x10(-5)). The genome-wide significant locus (3p14.3) co-localizes with a putative regulatory element that interacts with the promoter of WNT5A, which encodes the Wnt Family Member 5A protein known for its role in cardiac development in mice. We show that this element drives reporter gene activity in the developing heart of mice and zebrafish and is bound by the developmental transcription factor TBX20. We further demonstrate that TBX20 attenuates Wnt5a expression levels in the developing mouse heart. CONCLUSIONS: This work provides support for a polygenic architecture in D-TGA and identifies a susceptibility locus on chromosome 3p14.3 near WNT5A. Genomic and functional data support a causal role of WNT5A at the locus.

Published
2022

9. Hart- en vaatziekten

Author

van de Werf, F., primary, Desmet, W. J. R., additional, Gewillig, M., additional, Heidbuchel, H., additional, Herregods, M. C., additional, Sergeant, P. T., additional, and Vanhaecke, J., additional

Published
2016
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11. Acute and midterm outcomes of the post-approval MELODY Registry: a multicentre registry of transcatheter pulmonary valve implantation

Author

Nordmeyer, J., Ewert, P., Gewillig, M., AlJufan, M., Carminati, M., Kretschmar, O., Uebing, A., Dahnert, I., Rohle, R., Schneider, H., Witsenburg, M., Benson, L., Gitter, R., Bokenkamp, R., Mahadevan, V., Berger, F., Aggoun, Y., Agnoletti, G., Baumgartner, H., Lezo, J.S. de, Sofia, R., Dessy, H., Wolf, D. de, Dittrich, S., Dohlen, G., Emmel, M., Emmertsen, K., Fichtlscherer, S., Gabriel, H., Gaemperli, O., Gamillscheg, A., Godart, F., Guerin, P., Hofbeck, M., Marti, G., Michel-Behnke, I., Milanesi, O., Pinto, F., Qureshi, S., Schranz, D., Sievert, H., Sinisalo, J.P., Sluysmans, T., Spadoni, I., MELODY Registry Investigators, Pediatrics, University of Zurich, and Nordmeyer, Johannes

Subjects
Adult, Male, medicine.medical_specialty, Cardiac Catheterization, Time Factors, Heart disease, Adolescent, Heart Valve Diseases, 610 Medicine & health, 030204 cardiovascular system & hematology, 2705 Cardiology and Cardiovascular Medicine, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Interquartile range, Internal medicine, medicine, Humans, Transcatheter pulmonary valve implantation, 030212 general & internal medicine, Registries, Child, Retrospective Studies, Congenital heart disease, Heart Valve Prosthesis Implantation, Pulmonary Valve, Surrogate endpoint, business.industry, Hazard ratio, RVOT dysfunction, medicine.disease, Confidence interval, medicine.anatomical_structure, Treatment Outcome, Ventricle, 10036 Medical Clinic, Infective endocarditis, Cohort, Cardiology, Female, Cardiology and Cardiovascular Medicine, business, Follow-Up Studies
Abstract

Aims The post-approval MELODY Registry aimed to obtain multicentre registry data after transcatheter pulmonary valve implantation (TPVI) with the Melody™ valve (Medtronic plc.) in a large-scale cohort of patients with congenital heart disease (CHD). Methods and results Retrospective analysis of multicentre registry data after TPVI with the Melody™ valve. Eight hundred and forty-five patients (mean age: 21.0 ± 11.1 years) underwent TPVI in 42 centres between December 2006 and September 2013 and were followed-up for a median of 5.9 years (range: 0–11.0 years). The composite endpoint of TPVI-related events during follow-up (i.e. death, reoperation, or reintervention >48 h after TPVI) showed an incidence rate of 4.2% per person per year [95% confidence interval (CI) 3.7–4.9]. Transcatheter pulmonary valve implantation infective endocarditis (I.E.) showed an incidence rate of 2.3% per person per year (95% CI 1.9–2.8) and resulted in significant morbidity and in nine deaths. In multivariable Cox proportional hazard models, the invasively measured residual right ventricle (RV)-to-pulmonary artery (PA) pressure gradient (per 5 mmHg) was associated with the risk of the composite endpoint (adjusted hazard ratio: 1.21, 95% CI 1.12–1.30; P 2 improved significantly from 36 [interquartile range (IQR) 24–47] to 12 (IQR 7–17) mmHg and 47 to 1%, respectively (P Conclusion The post-approval MELODY Registry confirms the efficacy of TPVI with the Melody™ valve in a large-scale cohort of CHD patients. The residual invasively measured RV-to-PA pressure gradient may serve as a target for further improvement in the composite endpoint and TPVI I.E. However, TPVI I.E. remains a significant concern causing significant morbidity and mortality.

Published
2019

13. Infective endocarditis in patients after percutaneous pulmonary valve implantation with the stent-mounted bovine jugular vein valve: Clinical experience and evaluation of the modified Duke criteria.

Author

UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de cardiologie pédiatrique, Bos, D, De Wolf, D, Cools, B, Eyskens, B, Hubrechts, J, Boshoff, D, Louw, J, Frerich, S, Ditkowski, B, Rega, F, Meyns, B, Budts, W, Sluysmans, T, Gewillig, M, Heying, R, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de cardiologie pédiatrique, Bos, D, De Wolf, D, Cools, B, Eyskens, B, Hubrechts, J, Boshoff, D, Louw, J, Frerich, S, Ditkowski, B, Rega, F, Meyns, B, Budts, W, Sluysmans, T, Gewillig, M, and Heying, R

Abstract

Percutaneous pulmonary valve implantation (PPVI) has proven good hemodynamic results. As infective endocarditis (IE) remains a potential complication with limited available clinical data, we reviewed our patient records to improve future strategies of IE prevention, diagnosis and treatment. Medical records of all patients diagnosed with Melody® valve IE according to the modified Duke criteria were retrospectively analyzed in three Belgian tertiary centers. 23 IE episodes in 22 out of 240 patients were identified (incidence 2.4% / patient year) with a clear male predominance (86%). Median age at IE was 17.9 years (range 8.2-45.9 years) and median time from PPVI to IE was 2.4 years (range 0.7-8 years). Streptococcal species caused 10 infections (43%), followed by Staphylococcus aureus (n = 5, 22%). In 13/23 IE episodes a possible entry-point was identified (57%). IE was classified as definite in 15 (65%) and as possible in 8 (35%) cases due to limitations of imaging. Echocardiography visualized vegetations in only 10 patients. PET-CT showed positive FDG signals in 5/7 patients (71%) and intracardiac echocardiography a vegetation in 1/1 patient (100%). Eleven cases (48%) had a hemodynamically relevant pulmonary stenosis at IE presentation. Nine early and 6 late percutaneous or surgical re-interventions were performed. No IE related deaths occurred. IE after Melody® valve PPVI is associated with a relevant need of re-interventions. Communication to patients and physicians about risk factors is essential in prevention. The modified Duke criteria underperformed in diagnosing definite IE, but inclusion of new imaging modalities might improve diagnostic performance.

Published
2021

15. Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C

Author

Dermaut, B., Seneca, S., Dom, L., Smets, K., Ceulemans, L., Smet, J., De Paepe, B., Tousseyn, S., Weckhuysen, S., Gewillig, M., Pals, P., Parizel, P., De Bleecker, J.L., Boon, P., De Meirleir, L., De Jonghe, P., Van Coster, R., Van Paesschen, W., and Santens, P.

Subjects
Leigh disease -- Genetic aspects, Leigh disease -- Research, Myoclonic epilepsy -- Genetic aspects, Myoclonic epilepsy -- Research, Mitochondrial DNA -- Research, Gene mutations -- Research, Health, Psychology and mental health
Published
2010

17. Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease

Author

Izarzugaza, J.M.G., Ellesøe, S.G., Doganli, C., Ehlers, N.S., Dalgaard, M.D., Audain, E., Dombrowsky, G., Banasik, K., Sifrim, A., Wilsdon, A., Thienpont, B., Breckpot, J., Gewillig, M., Brook, J.D., Hitz, M.P., Larsen, L.A., and Brunak, S.

Subjects
Cardiovascular and Metabolic Diseases
Abstract

BACKGROUND: Congenital heart disease (CHD) occurs in almost 1% of newborn children and is considered a multifactorial disorder. CHD may segregate in families due to significant contribution of genetic factors in the disease etiology. The aim of the study was to identify pathophysiological mechanisms in families segregating CHD. METHODS: We used whole exome sequencing to identify rare genetic variants in ninety consenting participants from 32 Danish families with recurrent CHD. We applied a systems biology approach to identify developmental mechanisms influenced by accumulation of rare variants. We used an independent cohort of 714 CHD cases and 4922 controls for replication and performed functional investigations using zebrafish as in vivo model. RESULTS: We identified 1785 genes, in which rare alleles were shared between affected individuals within a family. These genes were enriched for known cardiac developmental genes, and 218 of these genes were mutated in more than one family. Our analysis revealed a functional cluster, enriched for proteins with a known participation in calcium signaling. Replication in an independent cohort confirmed increased mutation burden of calcium-signaling genes in CHD patients. Functional investigation of zebrafish orthologues of ITPR1, PLCB2, and ADCY2 verified a role in cardiac development and suggests a combinatorial effect of inactivation of these genes. CONCLUSIONS: The study identifies abnormal calcium signaling as a novel pathophysiological mechanism in human CHD and confirms the complex genetic architecture underlying CHD.

Published
2020

19. Infective endocarditis in patients after percutaneous pulmonary valve implantation with the stent-mounted bovine jugular vein valve: Clinical experience and evaluation of the modified Duke criteria.

Author

Bos, D., primary, De Wolf, D., additional, Cools, B., additional, Eyskens, B., additional, Hubrechts, J., additional, Boshoff, D., additional, Louw, J., additional, Frerich, S., additional, Ditkowski, B., additional, Rega, F., additional, Meyns, B., additional, Budts, W., additional, Sluysmans, T., additional, Gewillig, M., additional, and Heying, R., additional

Published
2021
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25. Recommendations for physical activity, recreation sport, and exercise training in paediatric patients with congenital heart disease: a report from the Exercise, Basic & Translational Research Section of the European Association of Cardiovascular Prevention and Rehabilitation, the European Congenital Heart and Lung Exercise Group, and the Association for European Paediatric Cardiology

Author

Takken, T, Giardini, A, Reybrouck, T, Gewillig, M, Hövels-Gürich, HH, Longmuir, PE, McCrindle, BW, Paridon, SM, and Hager, A

Published
2012
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26. 44 Aangeboren hartziekten

Author

Mulder, B. J. M., primary, Gewillig, M., additional, Pieper, P. G., additional, Meijboom, F. J., additional, Witsenburg, M., additional, and Hamer, J. P. M., additional

Published
2008
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29. Mid-term outcomes after percutaneous pulmonary valve implantation in complex right ventricular outflow tracts using the “folded” Melody® valve technique

Author

Valdeolmillos, E., primary, Jalal, Z., additional, Georgiev, S., additional, Eicken, A., additional, Hofbeck, M., additional, Sieverding, L., additional, Gewillig, M., additional, Ovaert, C., additional, Bouvaist, H., additional, Boudjemline, Y., additional, and Benoit, J.B., additional

Published
2020
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39. Heart Rate Reserve in Fontan Patients: Chronotropic Incompetence or Hemodynamic Limitation?

Author

Claessen, G, La Gerche, A, Van De Bruaene, A, Claeys, M, Willems, R, Dymarkowski, S, Bogaert, J, Claus, P, Budts, W, Heidbuchel, H, Gewillig, M, Claessen, G, La Gerche, A, Van De Bruaene, A, Claeys, M, Willems, R, Dymarkowski, S, Bogaert, J, Claus, P, Budts, W, Heidbuchel, H, and Gewillig, M

Abstract

Background Patients with a Fontan circulation achieve lower peak heart rates ( HR ) during exercise. Whether this impaired chronotropic response reflects pathology of the sinoatrial node or is a consequence of altered cardiac hemodynamics is uncertain. We evaluated the adequacy of HR acceleration throughout exercise relative to metabolic demand and cardiac output in patients with a Fontan circulation relative to healthy controls. Methods and Results Thirty subjects (20 healthy controls and 10 Fontan patients) underwent cardiac magnetic resonance imaging with simultaneous invasive pressure recording via a pulmonary and radial artery catheter during supine bicycle exercise to near maximal exertion. Adequacy of cardiac index, stroke volume, and HR reserve was assessed by determining the exercise-induced increase (∆) in cardiac index, stroke volume, and HR relative to the increase in oxygen consumption ( VO 2). HR reserve was lower in Fontan patients compared with controls (71±21 versus 92±15 bpm; P=0.001). In contrast, increases in HR relative to workload and VO 2 were higher than in controls. The change in cardiac index relative to the change in VO 2 (∆cardiac index/∆ VO 2) was similar between groups, but Fontan patients had increased ∆ HR /∆ VO 2 and reduced ∆ stroke volume/∆ VO 2 compared with controls. There was an early and marked reduction in stroke volume during exercise in Fontan patients corresponding with a plateau in cardiac output at a low peak HR . Conclusions In Fontan patients, the chronotropic response is appropriate relative to exercise intensity, implying normal sinoatrial function. However, premature reductions in ventricular filling and stroke volume cause an early plateau in cardiac output beyond which further increases in HR would be physiologically implausible. Thus, abnormal cardiac filling rather than sinoatrial node dysfunction explains the diminished HR reserve in Fontan patients.

Published
2019

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