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Biomedical subjects

A Bozio

Publications and source records attributed to A Bozio.

At least 37 records · Page 2Linked to original sources

[Mid-term results of treatment of aortic coarctation in neonates].

Between 1990 and 1997, 122 neonates aged 8.7 +/- 7.5 days, 75 boys (61.4%), were referred for coarctation of the aorta which was isolated (54 cases) or associated with one (52 cases) or more (20 cases) ventricular septal defects. Hypoplasia of the aortic arch, diagnosed in 52 cases, was more common in children with ventricular septal defects (p < 0.05). The diagnosis was later in isolated coarctation (10.6 +/- 6.8 days) than in cases with shunts (7.8 +/- 7.7 days) and/or hypoplasia of the aortic arch (5.1 +/- 4.3 days). One hundred and nineteen patients were operated, including 112 of left thoracotomy (24 had pulmonary artery banding in addition) at the age of 1.1 +/- 2.7 months, and 7 by sternotomy of first intention for aortic repair and closure of ventricular septal defect. After thoracotomy, closure of the ventricular septal defect was undertaken at 11.3 +/- 10.8 months in children who had undergone previous pulmonary banding and at 3.5 +/- 2.4 months in the absence of banding. Early mortality after aortic repair was 2.5% and late mortality 9.5%, higher in cases of large ventricular septal defects and hypoplasia of the aortic arch (p < 0.001). Follow-up varied from 55 days to 7.8 years (3.99 +/- 2.24 years). Global survival was 97.5% at 1 month and 98.2% at 8 years. In coarctation with ventricular septal defect survival was 95.6% at 1 month and 74.7% at 8 years with a worse prognosis in cases with large single interventricular shunts. Restenosis was observed in 28.5% of cases, 2.25 +/- 3.8 months after aortic surgery (88.5% of cases before the 6th month) and was generally treated by percutaneous aortic angioplasty (10 cases performed 13.5 +/- 12 months after surgery). In all, two factors seemed to increase the risk of death (hypoplasia of the aortic arch and large ventricular septal defects) and restenosis was observed in 1 out of 4 cases, usually before the 6th postoperative month.

Aortic Coarctation↗

Lack of evidence for connexin 43 gene mutations in human autosomal recessive lateralization defects.

Heterotaxy is the failure of the developing embryo to establish normal left-right asymmetry, which is often associated with multiple malformations. Previous studies have identified different mutations in the cytoplasmic tail of the connexin 43 (cx 43) gene in six patients from a series of six sporadic cases with defects of laterality and severe heart malformations. These cases showed that of the genes involved in lateralization defects with autosomal recessive transmission, cx 43 was the most important. This result was challenged by two different teams, which, on sequencing only the carboxyl terminal end of the cx 43 gene in 30 patients, found no mutations. To assess the responsibility of the cx 43 gene in human autosomal recessive lateralization defects, we tested its involvement in a selected group of 25 patients (19 familial cases) with a wide variety of lateralization defects and cardiovascular malformations. The whole coding sequence and direct flanking sequences were screened for mutations, both by single strand conformation analysis and direct fluorescent sequencing. We could only detect a single base pair insertion in the 3' untranslated region of one patient. To test the possibility of mutations in other parts of the cx 43 gene, the gene was located onto the physical map of chromosome 6, and flanking polymorphic markers were genotyped. Haplotype analysis excluded the cx 43 gene locus in nearly all of the familial cases of lateralization defects. Thus, our results do not support the suggestion that this gene is implicated in human autosomal recessive lateralization defects.

Abnormalities, Multiple↗

Mechanical valve in aortic position is a valid option in children and adolescents.

OBJECTIVE: The choice of a valve substitute remains a challenge in young patients, with numerous reports of early degeneration and calcification of biological valves in this age group. Therefore an assessment of the long-term results after mechanical aortic valve replacement in children was initiated. METHODS: A retrospective study was conducted in 54 consecutive patients aged 1.1 to 17 years (mean 12.8 +/- 4 years) operated on between 1975 and 1993. Aetiology was congenital in 34 patients, rheumatic in 13, infectious in 5, and dystrophic in 2. Concomitant surgery included mitral valve replacement (10), aortic annulus enlargement (9), correction of truncus arteriosus (7), Bentall operation (2), coarctation repair (2), tricuspid valvuloplasty (2), correction of double outlet right ventricle (1), and replacement of a right ventricle to pulmonary artery conduit (1). A Bjork-Shiley valve was implanted in 14 patients, and a St Jude Medical valve in 40. All patients were given Warfarin with a monthly INR control. Follow-up was completed through questionnaires mailed to referring physicians and direct clinical examination. RESULTS: Overall early mortality was 13% (7 cases), and 6% (2 cases) in the 32 patients operated on after 1984. Follow-up was complete in 45 survivors (2 lost to follow-up), with a total follow-up of 261 patient-years. There were 6 late deaths, 4 being cardiac and due to persistent LV dysfunction, and 2 valve-related, due respectively to major gastro-intestinal bleeding and massive thromboembolism. Linearized rates of valve thrombosis and anticoagulant-related hemorrhage were both 0.3% per patient-year. Actuarial survival rate was respectively 84.5% at 5 years and 70.2% at 10 years. Reoperation was necessary in 3 patients for recurrent LV outflow tract obstruction. One patient with severe LV dysfunction is awaiting a heart transplant. CONCLUSION: We conclude that the longterm outcome after mechanical aortic valve replacement in children and adolescents is satisfactory and comparable to currently available reports on biological substitutes. The mandatory anticoagulant therapy is well tolerated in this age group.

Adolescent↗

[Medium-term results of non-invasive follow-up after cardiac transplantation in childhood and in adolescence].

Between December 1984 and September 1996, 43 cardiac transplantations were carried out in 40 patients aged 2 days to 21 years (one third under 10 years of age) for cardiomyopathy (21 cases), congenital heart disease (19 cases) or retransplantation (3 cases). The average waiting time for transplantation was 80 days: this delay increased by a factor of five in 2 years (from 1 month, before 1994, to 5 months at present). Twelve patients dies, including 6 before the 8th day. The 28 survivors were prescribed triple immunosuppressive therapy: the average follow-up was 4.4 years (range 3 months to 11 years). Monitoring rejection was carried out by non-invasive methods based on clinical, electrocardiographic and Doppler echocardiographic observations. Any suspicion of acute rejection led to endomyocardial biopsy for confirmation and therapeutic guidance. There was a total of 47 episodes of acute rejection (0.3 per patient), mainly in the first 3 months: acute rejection was less common in the younger children. Graft function was normal in 71% of cases. Five children have a pacemaker implanted during the first month. Despite continuous steroid therapy, 82% of patients had normal staturo-ponderal growth. The myocardial mass of the graft increased in parallel with the body surface area. Nephrotoxicity of ciclosparine was responsible for significant renal failure in 19% of patient and seemed more common in the young children. Psychological disturbances were commonest in adolescence and could result in poor treatment compliance (4 cases, with 1 death and 2 retransplantations). Despite satisfactory medium-term results, nephrotoxicity of ciclosporine, long-term graft function and psychological difficulties of adolescents remain unresolved so that transplantation is reserved for terminal cardiac disease resistant to all other forms of treatment.

Adolescent↗

[Role of echocardiography in the diagnosis of congenital abnormalities of the thoracic aorta].

Echocardiography has revolutionized the diagnosis and follow-up of congenital heart disease over the last 20 years. Permanent technological innovation in the field of ultrasonic investigation and in the limitations inherent to this technique are illustrated in the assessment of congenital disease of the aorta, the subject of this review. The role of echocardiography associated with Doppler techniques in the investigation of congenital disease of the aorta varies with age: there is no rival technique in investigation of the foetus; in neonates, infants and young children, the role of ultrasound is preponderant because of the excellent echogenicity and the high incidence of congenital aortic disease occurring in a clinical context of cardiorespiratory distress. The limitations and insufficiencies of the techniques are greater in adolescents and adults in whom other non-invasive techniques are possible in acceptable practical conditions. The reality of progress in diagnosis is demonstrated by the possibility of therapeutic indications based only on the association of clinical and echocardiographic data without need for diagnostic catheterization and angiography. The limitations of ultrasonic techniques should however be recognized to avoid inappropriate usage.

Adolescent↗

[Long-term results after surgery of coarctation of the aorta in neonates and children].

Surgery is the treatment of choice for coarctation of the aorta in childhood. Coarctation presenting in the neonatal period carries a poorer functional and vital prognosis and it may be opposed to the paucisymptomatic forms observed in infants and children. Coarctation in the neonatal period presents with severe cardiac failure and is often associated with hypoplasia of the transverse aorta and/or other complex congenital malformation. Improved neonatal intensive care and the introduction of prostaglandin E1 have considerably reduced the immediate mortality by enabling surgery to be undertaken under the best possible haemodynamic conditions. However, early and late mortality in this group remain significantly higher due to associated cardiac lesions; in this context, the management varies with some groups carrying out surgery in one stage and others in two stages. Despite progress in neonatal surgery and operative techniques to increase the diameter of the transverse aorta, hypoplasia may persist and be a cause of restenosis or secondary hypertension. In this group of coarctations, the main problem is the timing of surgery in order to reduce the risks of restenosis and hypertension to a minimum. Restenosis is diagnosed by clinical examination. Doppler ultrasonography and eventually confirmed by magnetic resonance imaging (MRI). The risk factors for restenosis are young age at surgery, the type of procedure performed and the presence of extensive aortic hypoplasia. Recurrent, localised forms are accessible to percutaneous angioplasty when performed 6 months to 1 year after surgery; extensive restenosis and restenosis in older children should be referred for reoperation. Some subjects become hypertensive in the absence of residual obstruction and, in these cases, MRI should be requested to detect hypoplasia of the aortic arch. However, hypertension may be observed alone or only occur during exercise: late surgery and the length of follow-up seem to be associated with its occurrence. Aortic aneurysms occur after aortoplasty with a patch, a technique which has now be abandoned for this reason. Nevertheless, this risk is also associated with percutaneous angioplasty of restenosis, justifying systematic diagnostic MRI. In summary, coarctation of the aorta in children has a good overall prognosis at medium-term, the neonatal forms having considerably benefited from progress in the management of this condition in the intensive care unit and from advances in surgical technique. However, long-term cardiological follow-up remains necessary to detect the two potential complications: restenosis and hypertension.

Adolescent↗

Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion.

Molecular studies have shown microdeletions in region q11 of chromosome 22 in nearly all patients with DiGeorge, velocardiofacial and conotruncal anomaly face syndromes (DGS, VCFS and CTAFS, respectively) and in a high percentage of non-syndromic familial cases of conotruncal defects (CTD). CTD account for roughly a fourth to a third of all non-syndromic congenital heart defects (CHD), thus, 22q11 could harbor a major genetic factor of CHD. We searched for a 22q11 microdeletion in familial cases of non-syndromic CTD. Thirty-six cases of various isolated CTD, that is without history of hypocalcemia, immune deficiency, absent thymus, and dysmorphic appearance, were selected. With 48F8, a cosmid probe localized in the smallest deleted region of the DiGeorge critical region (DGCR), we found no deletions by fluorescence in situ hybridization in these 36 affected individuals of 16 families with recurrent CTD. Moreover, D22S264, a microsatellite localized at the distal part of the largest deleted region, was used to genotype the patients. Thirty-two patients out of 37 were heterozygous and hence not deleted at this locus, whereas 5 were uninformative. In conclusion, there are no large deletions in familial cases of various CTD, whether these defects are identical or not within a family. This result does not rule out other minor anomalies in this chromosomal region.

Adolescent↗

[Double outlet left ventricle: a rare and unusual cardiopathy. Apropos of 7 new cases].

Double outlet left ventricle is a very rare condition due to an abnormality of conotruncal morphogenesis. The authors report 7 new cases to the 119 already published, one with an anatomical variation not previously described. Three of the cases reported were of the most usual type similating tetralogy of Fallot. Two of these cases underwent complete correction with excellent results 13 months and 2 years after surgery. The third patient aged 6 months is well after initial palliative neonatal surgery. A case with an L-malposition pedicle with subpulmonary ventricular septal defect and pulmonary outflow tract obstruction died after early palliative surgery (Blalock-Taussig). A case with subaortic ventricular septal defect, pulmonary stenosis, and tricuspid atresia, underwent physiopathological correction (Fontan procedure) after a Waterston shunt and is well at 19 years of age. The other two cases presented more unusual anatomical forms aortic outflow obstruction: one had hypoplasia of the aortic arch with an isthmic coarctation requiring a Crafoord procedure in the neonatal period associating with banding followed by complete correction at 19 months of age. After 3 years, the patient is asymptomatic. The last case with atresia of the aortic valve and severe hypoplasia of the ascending aorta died after corrective surgery of first intent. Other cases have been described in the literature with different clinical presentations: absence of pulmonary or aortic obstruction; intact interventricular septum. The anatomical variability is due to the complex embryogenesis of the conotruncal region and explains the clinical diversity of this congenital cardiac malformation.

Aortic Valve↗

Endovascular treatment of an infantile nongalenic cerebral arteriovenous fistula with cyanoacrylate.

We report the radiological features, including Doppler sonography and magnetic resonance angiography (MRA) findings, of a nongalenic arteriovenous fistula diagnosed in the neonatal period. Hypertensive hydrocephalus developed in infancy. Emergent percutaneous transarterial embolization with n-butyl-2-cyanoacrylate was successfully performed and lead to clinical improvement. MRA allowed a noninvasive follow-up.

Angiography, Digital Subtraction↗

Changing patterns and prognosis of infective endocarditis in childhood.

A retrospective study of 69 cases of infective endocarditis in 68 children (group I: 1971-1981; 34 children; group II: 1982-1992; 34 children) disclosed the following features: a moderate increase in the global incidence of infective endocarditis (0.5% of children hospitalized in paediatric cardiology units) and of its incidence in the very young (proportion of children less than 1 year of age: 9% in group 1 and 17% in group II); no rheumatic heart disease amongst predisposing heart diseases in children living in France; a major causal role of congenital heart diseases (72%), with an increasing incidence of previous operation (group I: 42%; group II: 56%); an increase in associated complex congenital heart diseases (group I: 11%; group II: 20%); no change in related mitral valve prolapse (5% in both groups); positive blood cultures in 76% of cases, with similar rates of Staphylococci (group I: 27%; group II: 30%) and of unusual microorganisms (15% in both groups); a major diagnostic role for echocardiography (vegetations in group II: 64%). Complications occurred in 75% of cases in both groups (pulmonary or systemic emboli, mycotic aneurysms, valvar regurgitation), leading to heart failure in 29% of group I patients and in 32% of group II patients. Mortality has decreased, from 12% in group I to 3% in group II, as a result of more frequent cardiovascular surgery (group I: 11 cases; group II: 15 cases), problems due to restrictive prostheses, and severe consequences: only 27% of group II children were cured without deterioration of their cardiac condition.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

[Thrombolytic therapy with rt-PA for thrombosis of tricuspid valve prosthesis during pregnancy].

The authors report the case of a woman with thrombosis of a tricuspid Saint Jude prosthesis during the fourth month of pregnancy. A first course of thrombolytic therapy with rt-PA reestablished normal prosthetic valve function but was followed by a threatened abortion and severe uterine haemorrhage. An early rethrombosis of the prosthetic valve led to interruption of the pregnancy after failure of a second course of thrombolysis, and to replacement of the tricuspid valve prosthesis. This case illustrates the problems of pregnancy in women with mechanical cardiac prosthetic valves and the difficulties of treatment.

Abortion, Therapeutic↗

[Natural history of hypertrophic obstructive cardiomyopathy in young patients: apropos of 40 cases].

This retrospective study analysed the outcome of children with hypertrophic obstructive cardiomyopathy. Between 1969 and 1992, 40 patients all under 20 years of age (mean = 10.9 +/- 6.2 years) were followed up for this condition. There was a positive family history of hypertrophic cardiomyopathy and/or sudden death in 21 cases (53%); 21 (53%) were symptomatic: > NYHA Stage II dyspnoea (n = 13); chest pain (n = 8); syncope (n = 7) or palpitations (n = 4). Thirty-two patients were treated by betablockers, 1 by verapamil, 2 by amiodarone (associated with propranolol in 1 case); 7 patients underwent surgery and 6 others, asymptomatic, had no specific treatment. The mean follow-up period was 10.2 +/- 6.2 years with no drop-out: 13 patients died (1 non-cardiac death, 2 of unknown causes and 10 of cardiac causes, including 8 sudden deaths) giving an annual global mortality of 3.2%; the actuarial 5 and 10 year survival rates were 90 and 85% respectively. The 27 survivors were compared with the 13 patients who died: of the 11 clinical and paraclinical criteria examined, only a previous history of syncope correlated with global mortality (p = 0.004) and sudden death (p = 0.0008).

Adolescent↗

[Acute infectious myocarditis in children. Apropos of 2 series from Lyon].

Acute infectious myocarditis in childhood has a very poor initial outcome, but the long-term outlook is relatively good for the survivors. This retrospective study was based on cases of acute myocarditis admitted to two hospital departments with different modes of recruitment. Firstly, a polyvalent paediatric intensive care unit where 12 children (mean age 12 months) were admitted during the acute phase of myocarditis. The initial symptoms were non-specific and misleading, the diagnosis being established at autopsy in 9 cases. Only 4 children presented with typical cardiac failure. The clinical signs were hepatomegaly, sinus tachycardia, cardiomegaly, ECG ST-T wave changes and biological signs of multiple organ failure. Left ventricular function was very poor with a fractional shortening of only 17%. The causal agent was usually viral. The clinical course was marked by a high early mortality (11/26, 42%) within 23 hours of hospital admission. Secondly, a paediatric cardiology unit where 81 children (mean age 15 months) were followed up after acute infectious myocarditis. Thirteen cases were taken from our first series and were included for long-term follow-up; 76.5% had premonitory signs of infection and 71% were in cardiac failure, Classes III or IV, during the hospital admission. The causal agent was identified in 30 cases (37%) and was usually a virus (22 cases). Treatment was classical (association of digitalis, diuretics, angiotensin converting enzyme inhibitors, anticoagulants and beta-sympathomimetics when necessary).(ABSTRACT TRUNCATED AT 250 WORDS)

Acute Disease↗

[Re-stenosis of aortic coarctation in children. Comparison between aortic angioplasty and surgery].

The use of aortic angioplasty rather than surgery for restenosis of coarctation of the aorta after initial surgery remains controversial. The efficacy and complications of these two techniques have never been compared in prospective and retrospective studies. Between 1976 and 1992, 56 patients were treated for secondary restenosis of coarctation of the aorta: 29 by angioplasty and 27 by surgery. The case reports of these patients were reviewed retrospectively. The average follow-up was 1.5 +/- 0.3 years of the angioplasty group and 5.4 +/- 0.8 years for the surgical group. The reduction of systolic blood pressure in the right arm was significant and identical in the two groups (p < 0.05). The residual pressure gradient was less immediately and at term in the surgical group (p < 0.05). No fatalities were observed in either group. There were no aneurysmal complications. A neurological complication (posterior column syndrome) was observed after surgery (3.7%). The global rate of complications was higher after surgery (6.7% vs 33%). The rate of further restenosis was higher after angioplasty (18.5% vs 3.7%). The low rate of complications, the shorter hospital stay without repeat thoracotomy were in favour of the angioplasty procedure but the greater immediate and long-term efficacy of surgery on the pressure gradient was in favour of the latter solution. A prospective long-term study is necessary.

Adolescent↗

[Echocardiographic evaluation of the growth of cardiac graft in children with heart transplantation].

The evaluation of the growth of the cardiac transplant in children was studied in four young children and three infants by echocardiography after orthotopic transplantation. These children were all under 13 years of age at the time of transplantation and have been followed up for more than two years. The age of the recipients ranged from 2 days to 12.8 years (average 10.7 years) and that of the donors from 7 days to 27 years (average 6.7 years). All patients received triple immunosuppressor therapy. The follow-up was 29 to 48 months (average 39.7 months) in the infants and 28 to 71 months (average 50.25 months) in the children. In the 7 patients the global follow-up period ranged from 28 to 71 months (average 45.8 months). No episodes of acute rejection or hypertension were observed during the study period. The echocardiographic parameters studied were the left ventricular end diastolic dimension, left ventricular end systolic dimension, left ventricular mass, left ventricular mass index. The date was gathered prospectively during the study at monthly intervals after the 3rd postoperative month. The donor/recipient weight ratio varied from 0.83 to 5 (average 1.89). The growth of the recipients was normal in 5 out of 7 cases and moderately retarded in 2 cases. The left ventricular end diastolic dimension, left ventricular end systolic dimension and left ventricular mass increased linearly with the body surface area of all patients. The growth was faster in the infant patients.(ABSTRACT TRUNCATED AT 250 WORDS)

Body Surface Area↗

[Prognostic study of single ventricle with respect of anatomical and clinical data].

The authors analysed the anatomical and clinical prognostic factors of single or common ventricle. This retrospective study was based on a series of 185 patients hospitalised between 1/2/70 and 31/12/91 in the paediatric cardiological unit of the Cardiological Hospital of Lyon with this condition. A number of anatomical and clinical parameters were identified in this population. For each parameter, a given patient could only relate to single modality and a survival graph determined by Kaplan-Meier analysis was established for each modality. For each variable, the survival curve of the most frequently encountered modality served as a reference and the other modalities were compared with it using a logrank test. The different modalities potentially related to patient survival were then entered into a multivariable model using logistic regression. The results of this study of multivariable analysis using the Odds-Ratio (OR) independently suggest that four variables may influence negatively survival of patients with a single ventricle: pH < or = 7.3 on admission (OR = 3.55), a non-left ventricular morphology of the main ventricular chamber (OR = 3.11), the presence of an obstacle on the aortic outflow (OR = 5.58) and a total anomalous pulmonary venous drainage (OR = 26.88).

Adolescent↗

[Prognostic study of 3 main palliative surgical procedures in patients with single ventricle].

In emergency cases of babies with a single ventricle and an obstruction to aortic outflow, low pulmonary flow or, on the contrary, high pulmonary flow, only palliative surgical procedures can be proposed. The authors set out to determine the prognosis of a population with this type of lesion having undergone one of the three following procedures: systemic pulmonary shunt, pulmonary artery banding, repair of the aortic arch (usually associated with pulmonary banding). One hundred and nineteen (63%) of the 185 patients hospitalised between 1/01/1970 and 31/12/1991 in the paediatric cardiology unit of the Cardiac Hospital of Lyon with a diagnosis of single ventricle, underwent one of these three procedures as a treatment of first intention. The survival of the 22 patients who underwent pulmonary artery banding (90 +/- 6%, 85 +/- 8%, 85 +/- 8% at 1.5 and 10 years respectively) was significantly better than that of the patients undergoing systemico-pulmonary shunt (63 +/- 6%, 53 +/- 6% and 49 +/- 6% at 1.5 and 10 years respectively). On the other hand, repair of an obstacle of the aortic arch was a precarious procedure as the survival was only 23 +/- 11%, 16 +/- 11% and 16 +/- 11% and 1.5 and 10 years respectively). These results suggest, with the reserve inherent to the methodology of retrospective studies of small populations, that it is not illogical to continue to propose pulmonary artery banding for babies with single ventricle associated with high pulmonary flow. This procedure should only be envisaged after strict selection of candidates and providing there are facilities for intensive postoperative care.(ABSTRACT TRUNCATED AT 250 WORDS)

Cardiac Surgical Procedures↗

[Mitral valve replacement in infants using the "Saint-Jude Médical" prosthesis].

The authors report their experience of mitral valve replacement in infants under 2 years of age. A St Jude medical mitral prosthesis was implanted in 8 children, 7 with mitral regurgitation and 1 with mitral stenosis. The average age at surgery was 9 months with an average body weight of 6.6 Kg. Two children had prior mitral valvuloplasty. All patients were in the NYHA functional Class IV. One patient died after surgery (12.5%). There was one secondary death during follow-up. Six children were followed up for an average of 61 months (range 34 to 104 months). The 6 survivors are asymptomatic and receive oral anticoagulant therapy. Regular postoperative Doppler echocardiographic assessment has shown a gradual increase of the mean transprosthetic pressure gradient in all children. To date, no reoperation on the prosthetic valve has been necessary. Mitral valve replacement is an effective option in infants with severe cardiac failure in whom mitral valve repair is impossible. In these cases, the St. Jude medical prosthesis is a good choice. Effective anticoagulation is recommended, even at this age. Growth of the child will necessitate changing the prosthesis in later years.

Anticoagulants↗