PubMed Health⌕ Search

Biomedical subjects

Marc Gewillig

Publications and source records attributed to Marc Gewillig.

At least 19 recordsLinked to original sources
PubMed2007

Self-reported physical activities in patients after the Mustard or Senning operation: comparison with healthy control subjects.

BACKGROUND: Some decades ago, the Mustard or Senning operation was used to treat patients who were born with Transposition of the Great Arteries (TGA). Although life expectancy is good, previous studies have demonstrated limitations in exercise capacity. To what extent these limitations affect day-to-day functioning of the patients is not yet known. AIMS: We therefore investigated self-reported physical activities in patients after the Mustard or Senning operation, compared this with those of matched, healthy counterparts, and explored potential associations with age, gender and complexity of the TGA. METHODS: Seventy patients were matched with healthy controls. Habitual physical activity was measured using the Baecke questionnaire, resulting in a work, sports, and leisure time index, which ranges from 1 to 5. RESULTS: The median index scores of patients were 2.63 for work, 2.50 for sports; and 2.75 for leisure time. Only for sports, a significantly lower index score was found in patients. Furthermore, we found that older patients were less frequently engaged in sport activities (Spearman's rho=-0.38; p=0.02). CONCLUSION: The results showed that the level of physical activities of patients after the Mustard and Senning operation is normal, except for sport activities. This indicates that patients after a Mustard or Senning operation tend to partake in all activities that they can comfortably perform.

Activities of Daily Living↗
PubMed2006

Early complications of stenting in patients with congenital heart disease: a multicentre study.

AIMS: Stenting has become an established interventional cardiology procedure for congenital heart disease. Although most stent procedures are completed successfully, complications may occur. This multicentre study evaluated early complications after stenting in patients with congenital heart disease, including potential risk factors. METHODS AND RESULTS: In this combined Dutch-Belgian retrospective study, 309 consecutive patients had undergone 366 catheterizations and received 464 stents in 13 different anatomical positions (418 sites). Seventy-two stenting-related complications (19%) occurred, of which 24 (5.7%) were major. Seven procedure-related deaths were documented (2.3%). Stent malpositioning and embolization were most common (7.7%). The use of non-premounted stents tended to be associated with higher complication rates. Centre inexperience with stenting and stenting of native vs. post-surgical stenosis tended to be associated with increased major complication rates. CONCLUSION: After stenting, complications are common for congenital heart disease. The vast diversity of stenotic sites combined with relatively small patient populations makes these procedures sensitive to complications. Combining operator experience may reduce the risks of stenting in congenital heart disease. The availability of premounted stents for greater vessel diameters will likely reduce incidences of stent migration and embolization.

Adolescent↗
PubMed2006

Sesn1 is a novel gene for left-right asymmetry and mediating nodal signaling.

Remarkable progress has been made in understanding the molecular mechanisms underlying left-right asymmetry in vertebrate animal models but little is known on left-right axis formation in humans. Previously, we identified SESN1 (also known as PA26) as a candidate gene for heterotaxia by positional cloning of the breakpoint regions of a de novo translocation in a heterotaxia patient. In this study, we show by means of a zebrafish sesn1-knockdown model that Sesn1 is required for normal embryonic left-right determination. In this model, developmental defects and expression data of genes implicated in vertebrate left-right asymmetry indicate a role for Sesn1 in mediating Nodal signaling. In the lateral plate mesoderm, Nodal signaling plays a central role in left-right axis formation in vertebrates and is mediated by FoxH1 transcriptional induction. In line with this, we show that Sesn1 physically interacts with FoxH1 or a FoxH1-containing complex. Mutation analysis in a panel of 234 patients with isolated heterotaxia did not reveal mutations, indicating that these are only exceptional causes of human heterotaxia. In this study, we identify SESN1 as an indispensable gene for vertebrate left-right asymmetry and a new player in mediating Nodal signaling.

Animals↗
PubMed2006

Percutaneous closure of a persistent left superior vena cava connected to the left atrium.

Cerebral emboli and abscesses are common complications in patients with cyanotic congenital heart disease and right-to-left shunt. Of those, a persistent left superior vena cava (LSVC) draining into the left atrium, directly or through an unroofed coronary sinus, is a rather rare finding. In order to prevent recurrent cerebral emboli and abscesses, correction of this anomaly may be recommended. We report the first case of a patient who underwent a percutaneous closure of a persistent LSVC draining into the left atrium with an Amplatzer ASD occluder.

Blood Vessel Prosthesis Implantation↗
PubMed2006

Coil reduction of the right ventricular cavity in a boy with pulmonary atresia, intact ventricular septum, and an aneurysmal coronary sinusoid.

Coronary sinusoids are often found in patients with pulmonary atresia and intact ventricular septum. We report on a 4-year-old boy with such pathology in whom, after completion of the Fontan-circulation, the pulsatile flow through a major sinusoid significantly increased the size of a coronary artery up to aneurysmal dimensions. Because percutaneous closure of the sinusoid was unsuccessful, the right ventricular cavity was partially obliterated with coils. This resulted in a significant decrease of right ventricular stroke volume, regression of the pulsatility and of the coronary size, with good clinical result at 1.5 years of follow-up.

Child, Preschool↗
PubMed2006

Ultrasonic strain rate and strain imaging of the right ventricle in children before and after percutaneous closure of an atrial septal defect.

This study examined the influence of preload alterations on systolic right ventricular (RV) velocities and deformation indices in patients with atrial septal defect (ASD). A total of 21 patients with ASD underwent 2-dimensional echocardiography and color Doppler myocardial imaging scan before and 24 hours after transcatheter ASD closure. The data were compared with those obtained from 30 healthy age-matched children. Longitudinal peak systolic velocities, peak systolic strain rate (SR), and end-systolic strain (epsilon) were calculated in the midsegment of the RV free wall and the septum. In patients with ASD, higher RV peak systolic velocities were recorded, which returned to normal values after closure of the defect. In contrast, RV deformation indices in the patients with ASD were not different from normal values. These RV indices did not change significantly after ASD closure. We found a significantly decreased septal function after percutaneous ASD closure. This may be attributed to the device within the atrial septum, affecting deformation of the interventricular septum. In conclusion, RV longitudinal systolic deformation indices were not significantly influenced by chronic ventricular volume overload and sudden abolishment of this volume overload. These findings suggest that SR/epsilon are relatively load-stable measures of contractile function in the clinical setting. In contrast, myocardial velocities are clearly load dependent.

Adolescent↗
PubMed2006

Extreme levels of alpha-fetoprotein in a newborn with a benign intrapericardial teratoma.

We report a neonate presenting with an intrapericardial benign teratoma and an exceptionally high level of alpha-fetoprotein. Such severe elevation of alpha-fetoprotein in a neonate with a teratoma is usually associated with the presence of immature or malignant elements, compromising the prognosis. The tumour in our patient, however, proved to be completely benign. We discuss recent findings with regard to normal levels of alpha-fetoprotein levels in preterm infants, and in children with neonatal teratomas.

Adult↗
PubMed2006

Epicardial pacing: a single-centre study on 321 leads in 138 patients.

OBJECTIVE: This study presents the long-term outcome of 321 epicardial leads in 138 patients. METHODS AND RESULTS: All leads were Medtronic CapsureEpi model 4965 steroid eluting leads. The 1-, 3-, and 5-year patient survival was 91%, 83% and 77%, respectively.Twenty-seven patients died. In 25/27 deaths a pacing-related death could be excluded. Strangulation of the heart by an abandoned epicardial lead was the cause of death in one child. One other patient died suddenly at the age of 3 years. Failures occurred in 57 of 321 epicardial leads (18%). For all 321 leads, the 1-, 3- and 5-year freedom from failure was 91%, 85% and 71%, respectively. The cumulative proportion of patients without any lead defect was 85% after I year, 76% after 3 years and 62% after 5 years. The percentage of patients without serious adverse events at 1, 3, and 5 years was 97%, 91%, 85%, respectively. Lead fracture was the cause of failure in 15 leads of 9 patients. An important increase in pacing threshold occurred in 35 leads of 30 patients. Other failures were: diaphragmatic stimulation, infection, excessive traction and strangulation. Eighteen failures were repaired by 11 surgical interventions in 9 patients.Thirty-nine defects were corrected non-invasively in 31 patients. CONCLUSIONS: The use of steroid-eluting epicardial leads has proven to be an adequate option. In paediatric cardiology, the epicardial approach remains an indispensable tool for achieving a life-long pacing.

Adolescent↗
PubMed2005

Novel mutation in the Per-Arnt-Sim domain of KCNH2 causes a malignant form of long-QT syndrome.

BACKGROUND: It has been proposed that the highest risk for cardiac events in patients with long-QT syndrome subtype 2 (LQT2) is related to mutations in the pore region of the KCNH2 channel. It has also been suggested that a subpopulation of LQT2 patients may benefit from pharmacological therapy with modified KCNH2 channel-blocking drugs. METHODS AND RESULTS: In a large LQT2 family (n=33), we have identified a novel nonpore missense mutation (K28E) in the Per-Arnt-Sim (PAS) domain of the KCNH2 channel associated with a malignant phenotype: One third of the suspected gene carriers experienced a major cardiac event. Wild-type and K28E-KCNH2 channels were transiently transfected in HEK293 cells. For the mutant channel, whole-cell patch-clamp analysis showed a reduced current density, a negative shift of voltage-dependent channel availability, and an increased rate of deactivation. Western blot analysis and confocal imaging revealed a trafficking deficiency for the mutant channel that could be rescued by the K+ channel blocker E-4031. In cells containing both wild-type and mutant channels, deactivation kinetics were normal. In these cells, reduced current density was restored with E-4031. CONCLUSIONS: Our data suggest that besides pore mutations, mutations in the PAS domain may also exhibit a malignant outcome. Pharmacological restoration of current density is promising as a mutation-specific therapy for patients carrying this trafficking-defective mutant.

Adult↗
PubMed2005

Transcatheter closure of a Potts' shunt with subsequent surgical repair of tetralogy of fallot.

Closure of a Potts' aortopulmonary anastomosis during repair of a congenital heart malformation has been associated with high morbidity and mortality, especially due to technical problems encountered at closure of the shunt. A case is presented of a 40-year-old patient with tetralogy of Fallot and pulmonary atresia after palliation during infancy with a Potts' shunt. The anastomosis was successfully occluded using an Amplatzer ventricular septal defect occluder, immediately followed by complete surgical repair of his tetralogy of Fallot.

Aorta↗
PubMed2005

Acute hemodynamic benefit of left ventricular apex pacing in children.

BACKGROUND: Despite the fact that pacing at the right ventricular apex acutely and chronically decreases left ventricular contractile function, this pacing site is still conventionally used in adults and children. Because animal studies showed beneficial effects of left ventricular pacing, we compared the hemodynamic performance of left ventricular apex, left ventricular free wall, and right ventricular apex pacing in children. METHODS: Studies were performed in 10 children (median age, 2.5 years; range, 2 months to 17 years) undergoing surgery for congenital heart disease with normal systemic left ventricular anatomy and intraventricular conduction. High-fidelity left ventricular and arterial pressure measurements were performed during epicardial right ventricular apex and left ventricular apex and free wall pacing. RESULTS: Left ventricular apex pacing increased the maximum rate of rise of left ventricular pressure and pulse pressure significantly relative to right ventricular apex pacing (by 7.7% +/- 7.2% and 7.7% +/- 7.0%, respectively) without changes in end-diastolic left ventricular pressure. Left ventricular free wall pacing did not significantly improve hemodynamics as compared with right ventricular apex pacing. The QRS duration was not different among pacing at the three sites. CONCLUSIONS: In this short-term study left ventricular apex pacing is hemodynamically superior to right ventricular apex and left ventricular free wall pacing in children. Therefore, the left ventricular apex appears a favorable pacing site after pediatric cardiac surgery.

Adolescent↗
PubMed2005

A Java software for calculating mean breath-by-breath variability in gas exchange parameters: application in young cardiac patients with exercise-related periodic breathing.

Oscillatory changes in parameters of gas exchange have been reported during rest and exercise in cardiac patients with severely depressed left ventricular function. As a result of the growing interest in this oscillatory phenomenon, several methods for assessment of this ventilatory response have been presented in cardiovascular research. Nowadays, objective measurement becomes more important. Therefore, the software reported in this study is based on calculating the mean breath-by-breath variability in respiratory variables and has the advantage that patients can be compared to normal controls. This Java-based software is available for public download under: http://www.perswww.kuleuven.ac.be/Steven_Vangesselen

Belgium↗
PubMed2005

What does it mean to live with a congenital heart disease? A qualitative study on the lived experiences of adult patients.

BACKGROUND: Adults with congenital heart disease constitute a relatively new and continuously growing patient population. In addition to medical problems, patients perceive specific psychosocial concerns that influence their lived experiences and quality of life. AIM: This study aimed to explore the lived experiences of adult congenital heart disease patients. METHODS: Unstructured, in-depth interviews were performed with 12 patients, aged between 25 and 40 years and suffering from moderate or severe heart defect (tetralogy of Fallot, transposition of the great arteries). Interviews were tape recorded and transcribed verbatim. Data were analyzed using Grounded Theory procedures. RESULTS: Feeling different was the central theme of the patients' lived experience, as they are faced with physical limitations and visible signs due to the heart defect. The experienced discordance between their world and healthy individuals' world implies that patients struggle constantly with themselves and with their environment to be accepted as normal. The feeling of being different was influenced by attitudes of the environment, health care, and patient's personality. Moreover, it determined the perceived impact of the disease on the patient's daily life. CONCLUSION: This study shows that normalisation is the most important process when dealing with patients suffering from a congenital heart disease.

Activities of Daily Living↗
PubMed2005

Factors influencing the survival of cryopreserved homografts. The second homograft performs as well as the first.

OBJECTIVE: To determine the life span of cryopreserved homografts implanted in the right ventricular outflow tract and the factors influencing it. METHODS: From 1989 through 2003, we reconstructed the pulmonary valve with 301 homografts in 272 patients (median age 13 years; range 4 days-69 years). Indications were tetralogy of Fallot (136), truncus (23), Rastelli repair (11), double outlet ventricle (13), endocarditis (5), and the Ross operation (84). Median follow-up was 5.7 years (range 0-14). We analyzed possible predictors of graft replacement by simple and multiple Cox regression. RESULTS: Actuarial survival was 96+/-1.2% at 1, 95+/-1.4% at 5, and 94+/-1.5% at 10 years follow-up. Three homografts were explanted because of endocarditis (excluded from the analysis). Freedom from explantation was 99.6+/-0.4% at 1, 94.5+/-1.7% at 5, and 81.8+/-4.1% at 10 years. Variables, significantly related to explantation in the univariate analysis, were younger age, small graft size, implantation in a non-anatomical position, the aortic donor homograft, a shorter aortic cross-clamp time and the implantation of a second homograft. In the multiple model, non-anatomical position (P=0.001), smaller graft size (P<0.0001) or younger age (on square root scale, P<0.0001) and clamp time (P=0.01) remain as independent risk factors. Immunological variables, like blood group incompatibility, implantation of a second homograft and short warm ischemic time were not significant. CONCLUSIONS: The life span of a cryopreserved homograft is determined by graft size (correlates with age) and the non-anatomic position (correlates with indication). In a specific patient, the second homograft performs as well as the first.

Adolescent↗
PubMed2005

Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect.

Velocardiofacial syndrome is identified by a submicroscopic deletion of chromosome 22q.11 (del22q.11). This study presents data on the early motor development and behaviour of 11 children (8 males, 3 females) with del22q.11 (mean age 41mo, SD 9.7mo) with a congenital heart defect. To control for the impact of the congenital heart defect, a control group of 19 children (15 males, 4 females; mean age 46mo, SD 9mo) with the same types of congenital heart defects but without del22q.11 was selected. Motor development in both groups was measured with the Peabody Developmental Motor Scales-2. Behaviour was assessed with the Child Behaviour Checklist. Children with del22q.11 scored significantly lower (p<0.05) on motor performance than the children of the control group. Most deficient motor skills were found for the subtests Locomotion and Stationary. On the behaviour questionnaire, a statistically significant (p<0.05) difference between the two groups was found only for the subscale Withdrawn. These data reveal a significant motor delay in many young children with del22q.11, which is not caused by the presence of a congenital heart defect or by behavioural features.

Case-Control Studies↗