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Biomedical subjects

M Gewillig

Publications and source records attributed to M Gewillig.

At least 19 recordsLinked to original sources
PubMed2006

Stenting of hypoplastic aortic segments with mild pressure gradients and arterial hypertension.

OBJECTIVE: To determine the safety, feasibility and effectiveness of stent expansion of hypoplastic aortic segments with pressure gradients in patients with arterial hypertension. DESIGN: Non-randomised prospective clinical trial. SETTING: Tertiary referral centre, congenital cardiac unit. PATIENT SELECTION: 20 consecutive patients (median age 14.5 years, range 11.6-38.8 years) with arterial hypertension and a hypoplastic segment of the aorta. Seventeen patients had successful previous arch interventions in a coarctation site. INTERVENTIONS: Stent deployment in hypoplastic arch segments. MAIN OUTCOME MEASURES: Gradient across the aortic arch; complications early and during follow up; residual hypertension. RESULTS: 23 stents were deployed: 13 in the cross and 10 in the isthmus. The mean gradient across the aortic arch decreased from 16 (SD 6) (median 17) to 3 (4) (median 1) mm Hg (p < 0.001). In a few patients a mild gradient persisted just distal to the left carotid artery due to residual orificial narrowing or acute angulation. No complications occurred during or after the procedure. During follow up of 2.2 years (range 0.2-4.8 years) arterial hypertension resolved in 10 patients and 10 required residual drug treatment with better control of blood pressures. CONCLUSIONS: Pressure loss due to residual hypoplastic aortic segments can be treated effectively and safely with stent expansion. Some patients remain mildly hypertensive and require additional drug treatment.

Adolescent↗
PubMed2006

Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies.

Constitutional Complex Chromosomal Rearrangements (CCRs) are very rare. While the vast majority of CCRs involve more than one chromosome, only seven cases describe CCRs with four or more breakpoints within a single chromosome. Here, we present a patient with multiple congenital anomalies and mental retardation. Array Comparative Genomic Hybridisation (array CGH), FISH and Multicolour Banding FISH revealed a de novo complex rearrangement with two deletions, a duplication and an inversion of 4q. This CCR involving at least seven breakpoints is one of the most complex rearrangements of a single chromosome reported thus far. Potential mechanisms generating such complex rearrangements are discussed.

Abnormalities, Multiple↗
PubMed2005

Is the severity of congenital heart disease associated with the quality of life and perceived health of adult patients?

OBJECTIVE: To explore whether the severity of congenital heart disease is associated with the quality of life and perceived health status of adult patients. DESIGN: Descriptive, cross sectional study. SETTING: Adult congenital heart disease programme in one tertiary care centre in Belgium. PATIENTS: 629 patients (378 men, 251 women) with a median age of 24 years. MAIN OUTCOME MEASURES: Disease severity was operationalized in terms of initial diagnosis (classification of Task Force 1 of the 32nd Bethesda Conference), illness course (disease severity index), and current functional status (New York Heart Association (NYHA) class, ability index, congenital heart disease functional index, and left ventricular ejection fraction). Quality of life was measured by a linear analogue scale, the satisfaction with life scale, and the schedule for evaluation of individual quality of life. Perceived health status was also assessed with a linear analogue scale. RESULTS: Scores derived from the disease severity classification systems were weakly negatively associated with quality of life and health status, ranging from -0.05 to -0.27. The NYHA functional class and ability index were consistently associated with quality of life and perceived health. CONCLUSIONS: This study showed that the severity of congenital heart disease is marginally associated with patients' quality of life and perceived health. Functional status was more related to patients' assessment of their quality of life than was the initial diagnosis or illness course.

Adolescent↗
PubMed2004

Long term outcome up to 30 years after the Mustard or Senning operation: a nationwide multicentre study in Belgium.

OBJECTIVE: To assess long term outcome of patients who underwent Mustard or Senning repair for transposition of the great arteries up to 30 years earlier. DESIGN: Retrospective review of medical records. SETTING: The six university hospitals in Belgium with paediatric cardiology departments. PATIENTS: 339 patients were reviewed, of whom 124 underwent the Mustard procedure and 215 the Senning procedure. This represents almost the entire population of patients in Belgium with either simple or complex transposition. MAIN OUTCOME MEASURES: Mortality, morbidity, functional abilities, social integration. RESULTS: Overall mortality was 24.2%. Early mortality (< or = 30 days after surgery) accounted for 16.5%, late mortality for 7.7%. Actuarial survival of early survivors at 10, 20, and 30 years after surgery was 91.7%, 88.6%, and 79.3%, respectively. Patients in the Senning cohort had a slightly better survival rate than those in the Mustard cohort (NS). Baffle obstruction occurred more often after Mustard repair (15.3%) than after the Senning procedure (1.4%). Arrhythmia-free survival did not differ between the two cohorts, but was determined by the complexity of the transposition. Survivors of the Senning cohort had better functional status, and tended to engage in more sports activities. CONCLUSIONS: The long term outcome for patients surviving the Mustard or Senning operation was favourable in terms of late mortality, morbidity, functional, and social status. Overall mortality in the Senning cohort did not differ from the Mustard group, but Senning patients had better functional status, greater participation in sports activities, and fewer baffle related problems.

Adolescent↗
PubMed2003

PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse.

Heterotaxia is an aetiologically heterogeneous condition caused by an abnormal left-right axis formation, resulting in reversed left-right polarity of one or more organ systems. In a patient with heterotaxia and a de novo reciprocal translocation t(6;18)(q21;q21), we found that the PA26 gene was disrupted by the 6q21 breakpoint. Northern blot analysis showed decreased expression of the PA26 gene in an Epstein-Barr virus-transformed cell line of this patient. During early embryogenesis of Xenopus, the orthologue of PA26, XPA26 is exclusively expressed in the notochord, a midline structure. This further supports a possible role of PA26 in human situs determination. Mutation analysis of human PA26 gene in 40 unrelated individuals with unexplained heterotaxia failed to identify mutations, indicating that PA26 mutations are not a frequent cause of heterotaxia in humans. Analysis of the PA26 gene structure resulted in the identification of a novel PA26-related gene family, which we have named the sestrin family, and which comprises three closely related genes in human and in mouse.

Animals↗
PubMed2003

Modified technique of stent fenestration of the atrial septum.

OBJECTIVES: To develop a modified technique for stenting the atrial septum in the treatment of patients with a failing Fontan operation or pulmonary hypertension. SETTING: Two tertiary referral centres. STUDY DESIGN: Prospective collaborative clinical study. PATIENTS AND METHODS: A stent was mounted on a standard valvoplasty balloon catheter which was constricted to a predefined diameter by a loop created from a temporary pacing wire. Full balloon inflation created a diabolo shaped stent configuration. The technique was employed in 12 consecutive patients to relieve symptoms of a failing Fontan circulation (n = 6) or severe pulmonary hypertension (n = 6). RESULTS: Ex vivo studies confirmed that a diabolo shaped stent configuration could be achieved using the above technique. Transcatheter stent implantation was successful in all 12 patients. All six Fontan patients showed significant clinical improvement. Right atrial pressure decreased from (mean (SD)) 16.8 (2.5) to 13.7 (1.9) mm Hg (p < 0.05), and arterial oxygen saturation from 92.8 (1.8)% to 82.7 (3.8)% (p < 0.01). Six patients underwent successful stent fenestration for treatment of pulmonary hypertension. All stents were patent and stable at the most recent follow up (mean 1.75 (1.05) years). No early or late stent related complications were encountered. CONCLUSIONS: This new technique allows placement of a diabolo shaped stent with a predefined diameter across the atrial septum. The diabolo shape increases stent stability, facilitates recrossing of the stent during future catheter interventions, and ensures medium term stent patency.

Adolescent↗
PubMed2003

Haemoptysis in a patient with tetralogy of Fallot: a combined surgical and interventional approach.

Haemoptysis may occur in patients with tetralogy of Fallot and major aorto-pulmonary collateral arteries. We describe such a patient in whom bleeding from a major aorto-pulmonary collateral artery produced severe pulmonary haemorrhage. Interventional closure of the artery could not be performed because it perfused the native pulmonary arteries. Instead, we inserted a conduit between the right ventricle and the native pulmonary arteries, followed by percutaneous closure of the collateral artery. Our patient demonstrates the increasing necessity for combined surgical and interventional procedures.

Adolescent↗
PubMed2002

The use of methohexital during neonatal cardioversion.

We report on the use of methohexital during elective neonatal direct current cardioversion. In contrast with the available data on cardiac management in neonates with supraventricular tachycardia and the guidelines on anaesthetic management during cardioversion in adults, data on anaesthetic management in neonates are still lacking. Methohexital might be an option for procedural sedation and anaesthesia during elective cardioversion in neonates.

Anesthetics, Intravenous↗
PubMed2002

Rheology of discrete subaortic stenosis.

The discrete form of subaortic stenosis is thought to be an acquired lesion, the aetiology of which may be a combination of factors which include an underlying genetic predisposition, turbulence in the left ventricular outflow tract, and various geometric and anatomical variations of the left ventricular outflow tract. A review of hypotheses relating to its aetiology is provided

Discrete Subaortic Stenosis↗
PubMed2002

PTPN11 mutations in LEOPARD syndrome.

LEOPARD syndrome is an autosomal dominant disorder with multiple lentigines, congenital cardiac abnormalities, ocular hypertelorism, and retardation of growth. Deafness and genital abnormalities are less frequently found. We report a father and daughter and a third, unrelated patient with LEOPARD syndrome. Recently, missense mutations in the PTPN11 gene located in 12q24 were found to cause Noonan syndrome. All three cases of LEOPARD syndrome reported here have a Y279C mutation in the PTPN11 gene. We hypothesise that some PTPN11 mutations are associated with the typical Noonan syndrome phenotype and that other mutations, such as the Y279C mutation reported here, are associated with both the Noonan syndrome phenotype and with skin pigmentation anomalies, such as multiple lentigines or café au lait spots.

Abnormalities, Multiple↗
PubMed2001

Quantitation of localized abnormal deformation in asymmetric nonobstructive hypertrophic cardiomyopathy: a velocity, strain rate, and strain Doppler myocardial imaging study.

We report a case of a 10-year-old child with nonobstructive hypertrophic cardiomyopathy in whom two-dimensional echocardiography showed asymmetric septal hypertrophy with a localized thickening in the mid-septal segment. Systolic regional longitudinal motion and deformation indices were quantified by the new ultrasound-based parameters velocity, strain rate, and strain. Regional longitudinal myocardial function indices were normal for the basal and apical septal segments. The deformation parameters strain rate and strain (not the regional velocity profile) were abnormal only in the hypertrophied mid-septal segment with myofibril disarray. The concepts and advantages and clinical implications behind this quantitative approach to localizing and quantifying areas of abnormal deformation related to such myocardial disarray in localized hypertrophy are discussed.

Biomechanical Phenomena↗
PubMed2001

Recurrent involvement of chromosomal region 6q21 in heterotaxy.

We present a patient with heterotaxy and a de novo, apparently balanced reciprocal translocation with breakpoints at 6q21 and 20p13. Another patient with heterotaxy was previously reported with a de novo balanced translocation involving chromosome band 6q21. The breakpoints in both patients on 6q21 were found to be located in the same chromosomal region spanning maximally 2 Mb. We speculate that the two breakpoints lead to the disruption of the function of a single gene, either directly or through long distance effects. Alternatively, the present observation suggests additional heterogeneity in heterotaxy in humans.

Abnormalities, Multiple↗