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PubMed2001

Exstrophy of the cloaca and exstrophy of the bladder: two different expressions of a primary developmental field defect.

Exstrophy of the bladder (EB) and exstrophy of the cloaca (EC) are generally recognizable as distinct clinical entities. In patients with EB, the posterior bladder wall is exposed through a midline defect of the abdomen. The umbilicus is inferiorly displaced and located close to the superior margin of the exstrophic bladder. Genital abnormalities are common in boys and girls who may present epispadias and a small, split phallus or a split clitoris, a bifid uterus, and a duplicate or exstrophic vagina. In contrast to classic EB, EC is commonly associated with omphalocele, spinal defects, and incompletely formed external genitalia and is always associated with imperforate anus. Some authors state that EC and EB constitute two distinct disorders, but others consider them part of a "continuum," representing different levels of severity within the same spectrum. The use of the acronym OEIS to refer to the combination of omphalocele, exstrophy, imperforate anus, and spinal defects, in our opinion, has not helped to clarify the clinical definition, pathogenesis, or cause of this multiple congenital anomaly (MCA) pattern, mostly because the term makes no distinction between EC or EB. Here we present the epidemiological analysis of a group of characteristics in infants with EC and infants with EB to determine if they constitute two different entities. We also analyze if the different combinations of omphalocele, imperforate anus, and spinal defects are more frequent in infants with EC than in infants with MCA patterns other than EC and EB. The prevalence in our data for EC was 1:200,233 live births and 1:35,597 for EB. The clinical analysis indicated that the study defects (omphalocele, spine defects, spina bifida, and imperforate anus) tend to occur together in the same child with a higher frequency if the child has the EC defect than in infants with MCA patterns that did not include EC or EB. Our findings of low birth weight, twinning, single umbilical artery, and preferentially associated malformations suggest that EC is the result of damage occurring very early in development and that EC and EB are two different expressions of a primary polytopic developmental field defect.

Abnormalities, Multiple↗
PubMed2003

Guidelines for case classification for the National Birth Defects Prevention Study.

BACKGROUND: Previous studies have suggested that etiologic heterogeneity may complicate epidemiologic analyses designed to identify risk factors for birth defects. Case classification uses knowledge of embryologic and pathogenetic mechanisms to make case groups more homogeneous and is important to the success of birth defects studies. METHODS: The goal of the National Birth Defects Prevention Study (NBDPS), an ongoing multi-site case-control study, is to identify environmental and genetic risk factors for birth defects. Information on environmental risk factors is collected through an hour-long maternal interview, and DNA is collected from the infant and both parents for evaluation of genetic risk factors. Clinical data on infants are reviewed by clinical geneticists to ensure they meet the detailed case definitions developed specifically for the study. To standardize the methods of case classification for the study, an algorithm has been developed to guide NBDPS clinical geneticists in this process. RESULTS: Methods for case classification into isolated, multiple, and syndrome categories are described. Defects considered minor for the purposes of case classification are defined. Differences in the approach to case classification for studies of specific defects and of specific exposures are noted. CONCLUSIONS: The case classification schema developed for the NBDPS may be of value to other clinicians working on epidemiologic studies of birth defects etiology. Consideration of these guidelines will lead to more comparable case groups, an important element of careful studies aimed at identifying risk factors for birth defects.

Adult↗
PubMed1991

Determination of the anatomical size of ventricular septal defects on the basis of hemodynamic data and noninvasive assessment of pulmonary to systemic vascular resistance ratio Rp/Rs by Doppler-echocardiography.

The pulmonary and systemic flow (Qp/Qs) and resistance ratios (RP/Rs) were determined in children with isolated ventricular septal defects (VSD) to derive an "effective defect resistance" (Rd/Rs) representing the ratios of the resistance of the defect to the systemic vascular resistance. The defect size (expressed as the ratio of the area of the defect to the cross-sectional area of the ascending aorta) was related to the calculated "effective defect resistance," where a significant (non-linear) correlation was found. The effective resistance of the defect is a useful aid for estimation of the anatomical size of a ventricular septal defect. The close correlation between anatomical size and the hemodynamic parameter Rd/Rs allows one to calculate the ratio Rp/Rs with this concept using noninvasive Doppler-ultrasound and echocardiography. This was performed in 21 children with VSD who underwent cardiac catheterisation. The noninvasive calculated flow ratio Qp/Qs and the resistance ratio Rp/Rs showed a close correlation to the values measured at cardiac catheterisation.

Cardiac Catheterization↗
PubMed1994

Paternal age and the risk of congenital heart defects.

The effect of paternal age on the risk of birth defects among offspring is less well studied than the effect of maternal age, with few comprehensive epidemiologic studies having been conducted. Advanced paternal age has been shown to be associated with an increase in new dominant mutations that result in particular congenital anomalies. The relationship between paternal age and more common birth defects, for example, cardiac defects, has not been as extensively evaluated. Therefore, a total of 4,110 cases of congenital heart defects was identified from the British Columbia Health Surveillance Registry. Matched controls were obtained from the birth files of British Columbia for the years 1952-1973. Prevalence odds ratios for paternal age, adjusted for maternal age and other factors, were estimated for 8 cardiac defect groups. A suggestive general pattern of increasing risk with increasing age among cases (excluding chromosomal anomalies) relative to controls was found for ventricular septal defects (VSD), atrial septal defects (ASD), and patent ductus arteriosus (PDA). In addition, an increased risk among men younger than 20 yr was found for VSD and ASD. These findings are consistent with the results of some previous epidemiologic studies. Based on the results of this study it is estimated that for cardiac defects such as VSD, approximately 5% of cases may be due to advanced paternal age (> 35 yr), possibly through dominant mutations.

Adult↗
PubMed2005

Relationship between nuchal translucency thickness and prevalence of major cardiac defects in fetuses with normal karyotype.

OBJECTIVE: To define the prevalence of major cardiac defects according to nuchal translucency (NT) thickness at the 11 to 13 + 6-week scan in fetuses with normal karyotype. METHODS: Specialist fetal echocardiography was carried in 6921 fetuses with normal or presumed normal karyotype at a median gestation of 20 (range 12-35) weeks. The indications for fetal echocardiography were increased NT thickness (n = 3444), detailed second-trimester scan either for assessment of risk of chromosomal abnormalities (n = 2980) or previous or family history of fetal defects (n = 497). The cardiac defects were grouped into six functional categories: septal defect, left inflow obstruction, right inflow obstruction, left outflow obstruction, right outflow obstruction and other. RESULTS: Major cardiac defects were identified in 132 (19.1 per 1000) fetuses and the prevalence increased with fetal NT thickness from 4.9 per 1000 in those with NT below the median, to 8.7 for NT between the median and less than the 95th centile, 18.2 for NT between the 95th and 99th centiles, and exponentially thereafter to 35.2, 64.4 and 126.7 for respective NTs of 3.5-4.4 mm, 4.5-5.4 mm and > or = 5.5 mm. There was no obvious difference in the distribution of NT in the different types of cardiac defects. CONCLUSIONS: The prevalence of major cardiac defects increases exponentially with fetal NT thickness and in fetuses with NT of 3.5 mm or more it is higher than in pregnancies with a family history of cardiac defects.

Adolescent↗
PubMed2006

Is measurement of nuchal translucency thickness a useful screening tool for heart defects? A study of 16,383 fetuses.

OBJECTIVE: To determine the performance of nuchal translucency thickness (NT) measurement as a screening method for congenital heart defects (CHD) among fetuses with normal karyotype. METHODS: An NT measurement was made in 16 383 consecutive euploid fetuses derived from an unselected pregnant population. The cut-offs for increased risk of heart defects, chosen a priori and tested prospectively, were: NT >or= 95th centile for crown-rump length, NT >or= 3 mm, and NT >or= 3.5 mm. The sensitivity and false-positive rate (FPR; 1 minus specificity) of the risk cut-offs and their positive and negative likelihood ratios (+LR and -LR) with regard to CHD were calculated. RESULTS: Among the 16 383 fetuses with an NT measurement there were 127 cases with a diagnosis of heart defect confirmed by cardiac investigations after birth or at autopsy. Of these, 55 defects were defined as major, of which 52 were isolated (no other defects or chromosomal aberrations), corresponding to a prevalence of major heart defects in chromosomally normal fetuses/newborns of 3.3/1000. The sensitivity, FPR, +LR and -LR for NT >or= 95th centile with regard to an isolated major heart defect were: 13.5%, 2.6%, 5.2 and 0.9, respectively. For NT >or= 3.0 mm these values were: 9.6%, 0.8%, 12.0 and 0.9, and for NT >or= 3.5 mm they were: 5.8%, 0.3%, 19.3 and 0.9. CONCLUSIONS: NT measurement is a poor screening method for isolated major CHD. A method with a much higher detection rate and with a reasonably low FPR is needed. However, increased NT indicates increased risk of fetal heart defect, and women carrying fetuses with increased NT should be offered fetal echocardiography in the second trimester.

Epidemiologic Methods↗
PubMed1999

Neurofibromin deficiency in mice causes exencephaly and is a modifier for Splotch neural tube defects.

Neural tube defects are common and serious human congenital anomalies. These malformations have a multifactorial etiology and can be reproduced in mouse models by mutations of numerous individual genes and by perturbation of multiple environmental factors. The identification of specific genetic interactions affecting neural tube closure will facilitate our understanding of molecular pathways regulating normal neural development and will enhance our ability to predict and modify the incidence of spina bifida and other neural tube defects. Here, we report a genetic interaction between Nf1, encoding the intracellular signal transduction protein neurofibromin, and Pax3, a transcription factor gene mutated in the Splotch mouse. Both Pax3 and Nf1 are important for the development of neural crest-derived structures and the central nervous system. Splotch is an established model of folate-sensitive neural tube defects, and homozygous mutant embryos develop spina bifida and sometimes exencephaly. Neural development is grossly normal in heterozygotes and neural tube defects are not seen. In contrast, we found a low incidence of neural tube defects in heterozygous Splotch mice that also harbored a mutation in one Nf1 allele. All compound homozygotes had severe neural tube defects and died earlier in embryogenesis than either Nf1(-/-) or Sp(-/-) embryos. We also report occasional exencephaly in Nf1(-/-) mice and identify more subtle CNS abnormalities in normal-appearing Nf1(-/-) embryos. Though other genetic loci and environmental factors affect the incidence of neural tube defects in Splotch mice, these results establish Nf1 as the first known gene to act as a modifier of neural tube defects in Splotch.

Animals↗
PubMed1986

Pathological anatomy of ventricular septal defect associated with aortic valve prolapse and regurgitation.

In an attempt to clarify the pathogenetic morphology of aortic regurgitation (AR) due to prolapse of the aortic valve (prolapsing AR) associated with ventricular septal defect (VSD), 201 specimens from Japanese autopsy series with isolated VSD were examined. Among these hearts, there were 128 cases (64%) of infundibular VSD (IVSD); 29 of them (14%) showed AR due to prolapsed cusp, of which nine cases developed a large aneurysm of the sinus of Valsalva. Another 32 cases (16%) had varying degrees of prolapse but without AR and were considered to show the prodrome of prolapsing AR. These 61 cases (30%) were examined with special reference to the type of septal alignment, location of the defect, relation of the defect to the aortic valve, and anomalies of the aortic valve and sinus of Valsalva. There were two principal forms in this syndrome: The common form, i.e., simple punched-hole IVSD with normal septal alignment in 82% (50/61) of cases, and a rare form, i.e., malalignment IVSD in 18% (11/61) of cases. The latter included Eisenmenger-type IVSD due to anteriorly deviated outlet septum (10/11 cases) and coarctation-type IVSD due to posteriorly deviated septum (1/11). Both forms had several subtypes according to the location of the defect, i.e., subpulmonic, muscular, perimembranous, and total IVSD. The relevant anatomical findings of the common form of the syndrome were: There was no septal malalignment with a normal aortic valve position. The VSD was a simple muscular defect in any part of the infundibular septum between the pulmonary valve above and the membranous septum below, the majority of cases (80%), however, showed subpulmonic IVSD. The annulus and sinus of Valsalva wall of the right coronary cusp, which is normally supported firmly by this septum, became exposed in the muscle defect and were poorly supported. The majority of cases showed a normally formed aortic valve but with poor support. The muscular defect was relatively large, but the functioning VSD was usually less than moderate in size with a half-moon shape below the denuded sinus of Valsalva wall and annulus. The functioning VSD appeared to become narrower depending on the degree of prolapse into the defect, resulting in a crescent-moon or slit-like shape, and it may close in rare cases. The major anatomical findings of the rare form were: There was mild to moderate dextroposition (or levoposition) of the aortic valve due to a septal malalignment.(ABSTRACT TRUNCATED AT 400 WORDS)

Adolescent↗
PubMed1982

Ventricular septal defect with silent discrete subaortic stenosis.

Subaortic stenosis is rarely mentioned as a lesion that may be associated with a ventricular septal defect. We have encountered 4 patients with discrete subaortic stenosis adjacent to a ventricular septal defect, all of whom posed significant problems in diagnosis. In all 4 patients the subaortic stenosis was silent clinically and in 3 cases the obstruction was also not detected at the initial cardiac catheterization and angiocardiography. In the latter 3 cases, after surgical closure of the ventricular septal defect, there was a loud systolic murmur initially thought to be due to a small residual ventricular septal defect. In time, the clinical findings became more typical of isolated subaortic stenosis. In each of these cases the obstruction was verified at cardiac catheterization with peak systolic pressure gradients of 145, 45, and 70 mmHg. During reoperation, a discrete subaortic shelf was found opposite the patch used to close the ventricular septal defect. In the 4th case, the subaortic stenosis was unsuspected by clinical evaluation but was diagnosed by echocardiography as well as at cardiac catheterization, and both the ventricular septal defect and subaortic stenosis were corrected at the initial operation. A discrete subaortic shelf situated adjacent to a ventricular septal defect may be "silent," producing minimal, if any, pressure gradient and may pose diagnostic difficulties. Failure to recognize such a shelf and to remove it at the time of surgical closure of the ventricular septal defect, may result in the creation of a severe subaortic obstruction.

Adolescent↗
PubMed1996

Colour contrast thresholds in congenital colour defectives.

The influence of congenital colour defects on a clinical computer test for equiluminous colour discrimination is studied. Differences in relative spectral sensitivity and changes in colour contrast discrimination are two distinct manifestations of the abnormal genes responsible for congenital red-green defects. The very simple and rapid method of the heterochromatic flicker brightness test acts like an anomaloscope and can be used to distinguish protan and deuteran defectives. The depth of the congenital colour defect can be quantified by the colour contrast threshold measured in equiluminous conditions along a single red-green axis identical for all types of red-green colour defectives. Colour contrast thresholds in tritan colour axes are not influenced by congenital red-green defects and therefore they are of extreme clinical interest to detect and quantify acquired colour defects, even in the presence of a previously unknown congenital red-green defect.

Color Perception Tests↗
PubMed1992

Surgical management of the infant with coarctation of the aorta and ventricular septal defect.

Clinical and cardiac catheterization data were collected from 39 infants with coarctation of the aorta and ventricular septal defect, 31 of whom were initially managed only by surgical repair of coarctation. Data were analyzed to determine mortality, morbidity, outcome and factors that might predict survival or the need for septal defect closure. Of the eight patients who did not require surgical treatment before 3 months of age, seven underwent coarctation repair alone at a mean age of 2.3 years. Of the 23 infants managed with coarctation repair alone, before age 3 months, 9 needed no additional surgical treatment and 6 required early and 8 required late repair of the ventricular septal defect. Seven infants underwent coarctation repair and simultaneous pulmonary artery banding and one eventually required debanding after spontaneous closure of the septal defect. The overall mortality rate in this series was 10.3% (mean follow-up time 5.7 years). Of 39 infants, 16 (41%) never required a second operation for ventricular septal defect closure. For patients who had only coarctation or coarctation repair with pulmonary artery banding at less than 3 months of age, ventricular septal defect size was categorized as small (less than 0.5 cm/m2), moderate (less than 1 cm/m2) or large (greater than 1 cm/m2) on the basis of defect size at operative repair or echocardiographic or angiographic assessment. Defect size did not necessarily correlate with the need for operative repair.(ABSTRACT TRUNCATED AT 250 WORDS)

Aortic Coarctation↗
PubMed1996

"Crochetage" (notch) on R wave in inferior limb leads: a new independent electrocardiographic sign of atrial septal defect.

OBJECTIVES: This study sought to determine the clinical significance of a "crochetage" pattern--a notch near the apex of the R wave in electrocardiographic (ECG) inferior limb leads--in secundum atrial septal defect. BACKGROUND: Atrial septal defect is often overdiagnosed on the basis of classical clinical features. Thus, more specific signs on the ECG for screening are needed. Methods. We searched for a crochetage pattern in 1,560 older children and adults: 532 with secundum atrial septal defect, 266 with ventricular septal defect, 146 with pulmonary stenosis, 110 with mitral stenosis, 47 with cor pulmonale and 459 normal subjects. RESULTS: This pattern was observed respectively in 73.1%, 35.7%, 23.3%, 6.4%, 10.6% and 7.4% of these groups (p<0.001). In atrial septal defect, its incidence increased with larger anatomic defect (p<0.0001) or greater left-to-right shunt (p<0.0001), even in the presence of pulmonary hypertension. By multiple regression analysis, only shunt size (p<0.0006) and defect location (p<0.0001) were the determinants of its presence. In all groups, the specificity of this sign for the diagnosis was remarkably high when present in all three inferior limb leads (> or = to 92%), even when comparison was limited to patients with an incomplete right bundle branch block (> or = 95.2%). Early disappearance of this pattern was observed in 35.1% of the operated-on patients although the right bundle branch block pattern persisted. CONCLUSIONS: A crochetage pattern of the R wave in inferior limb leads is frequent in patients with atrial septal defect, correlates with shunt severity and is independent of the right bundle branch block pattern. Sensitivity and specificity of this sign are remarkably high when it is associated with an incomplete right bundle branch block or present in all inferior limb leads.

Adolescent↗
PubMed2005

Aortic valve prolapse associated with outlet-type ventricular septal defect.

BACKGROUND: Aortic valve prolapse is frequently associated with juxta-arterial ventricular septal defect. The significance of its association with other outlet types of ventricular septal defect, however, remains unclear. METHODS: From 1987 to 2002, 677 patients (male:female ratio, 424:253) who received surgical repair for ventricular septal defect extending to the outlet septum were reviewed. Based on surgical findings, ventricular septal defects were classified as juxta-arterial, perimembranous outlet, or muscular outlet type. RESULTS: Aortic valve prolapse occurred in 373 of 677 patients (57.2%) with 209 juxta-arterial, 103 perimembranous outlet, and 61 muscular outlet type. Significant aortic regurgitation developed in 51 of 373 (14%). Among 252 patients with regular follow-up, the mean onset ages of aortic valve prolapse in juxta-arterial, perimembranous outlet, and muscular outlet type were 4.9, 5.0, and 5.1 years, respectively (no statistical difference). The presence of larger shunt and probably anterior malalignment predicted an earlier onset of aortic valve prolapse. Perimembranous outlet and muscular outlet type ventricular septal defect were frequently associated with infundibular hypertrophy and subaortic ridge, and perimembranous outlet type was associated with anterior septal malalignment. In juxta-arterial ventricular septal defect and ventricular septal defect with anterior malalignment, prolapsed cusp was always the right coronary cusp, but noncoronary cusp involvement was also common in perimembranous outlet type (17 of 103, 16.5%). CONCLUSIONS: The association with anterior septal malalignment, infundibular stenosis and subaortic ridge is related to the location of the outlet ventricular septal defect. The age of onset of aortic valve prolapse in each type was quite similar, and a larger shunt may predict an earlier onset.

Adolescent↗
PubMed2004

Parental employment status and neural-tube defects and folic acid/multivitamin supplementation in Hungary.

OBJECTIVE: To study the role of parental employment status as indicator of socio-economic status (SES) in the origin of neural-tube defect (NTD) and in the use of periconceptional folic acid/multivitamin supplementation. MATERIALS AND METHODS: One thousand two hundred and two cases with neural-tube defects, 38,151 population controls without any defects and 22,475 patient controls with other defects were compared in the population-based data set of the Hungarian case-control surveillance of congenital abnormalities, 1980-1996. RESULTS: The proportion of professionals was lower, while the proportion of semi- and unskilled workers was higher in the neural-tube defect group compared with the population control group. However, the comparison of neural-tube defect and patient control groups showed a lower socio-economic status in the patient control group. In addition, the socio-economic status of fathers in the neural-tube defect group seemed to be better than in the population and patient control groups. The higher periconceptional folic acid supplementation and the higher use of multivitamins during pregnancy occurred in the professional and managerial categories in all the three study groups. CONCLUSION: The occurrence of neural-tube defect shows a slight socio-economic dependence in the mothers at the comparison with population control group, however, patient control group had the lowest socio-economic status. The higher maternal education goes together with a higher proportion of periconceptional folic acid supplementation.

Adult↗
PubMed2004

Intraoperative device closure of perimembranous ventricular septal defects without cardiopulmonary bypass: preliminary results with the perventricular technique.

OBJECTIVE: In infants undergoing closure of perimembranous ventricular septal defects, cardiopulmonary bypass remains one of the factors that prolongs hospital stay and morbidity. A new technique was used to close the defects under echocardiographic guidance without cardiopulmonary bypass to prevent the deleterious effects of bypass. METHODS: Recently, the Amplatzer membranous ventricular septal defect device (AGA Medical Corp, Golden Valley, Minn) was introduced. The device has a double-disc design with a short connecting waist. The left ventricular disc has an eccentric design to prevent encroachment on the aortic valve leaflets. Eight Yucatan miniature pigs with naturally occurring perimembranous ventricular septal defects underwent closure of the defect in the operating room by using the perventricular technique. After median sternotomy, a purse-string suture was placed on the free wall of the right ventricle. An angiocatheter was advanced in the right ventricle, and through the catheter, a wire was advanced from the right ventricle through the ventricular septal defect into the left ventricle. A delivery sheath and the dilator were advanced over the wire. The wire and catheter were removed, and an appropriately sized Amplatzer membranous device was advanced through the sheath. The device was deployed under echocardiographic guidance with the heart beating. RESULTS: The procedure was successful in all animals. There was no incidence of device embolization, heart block, or aortic insufficiency. Angiograms at 3 and 6 months revealed no residual defects and no aortic insufficiency. Pathologically, the devices were completely endothelialized when examined grossly. CONCLUSIONS: The perventricular technique appears to be excellent for closure of perimembranous ventricular septal defects in the operating room. The technique might be feasible in smaller babies, who are high-risk candidates for closure in the catheterization laboratory. Cardiopulmonary bypass and prolonged hospital stay are avoided.

Animals↗
PubMed2006

Surgical repair of multiple muscular ventricular septal defects: the role of re-endocardialization strategy.

OBJECTIVE: Surgical repair of multiple muscular ventricular septal defects (Swiss cheese septum) is associated with important morbidity and mortality. We sought to examine factors associated with permanent heart block, early mortality, and time-related survival. Additionally, we evaluated a new approach, transatrial re-endocardialization of interventricular septum, to mitigate risk. METHODS: One hundred sixteen patients underwent surgery for multiple muscular ventricular septal defects (1982-2005), of whom 64 (55%) had associated cardiac anomalies. Twenty-seven consecutive patients (median age 0.54 years, range 15 days-7.2 years) underwent transatrial re-endocardialization (2002-2005). Forty-four percent had Swiss cheese septum (>4 defects). Multivariable regression analysis determined risk factors for pacemaker and survival. RESULTS: Operative mortality for the entire cohort was 9%. Risk factors for death were double-outlet right ventricle (odds ratio 44.7, P = .003), ventriculotomy (odds ratio 6.4, P = .03), and fewer multiple muscular ventricular septal defects repaired (odds ratio 4.7/defect, P = .04). Era mortalities differed: 16% for 1982 through 1990, 13% for 1990 through 1998, and 0% for 1999 through 2005, P = .006). Fourteen patients (12%) required a pacemaker. Time-related survivals at 1 and 10 years were 90% +/- 3% and 82% +/- 5%. Risk factors for death were double-outlet right ventricle (hazard ratio 8.3, P = .02) and longer bypass (hazard ratio 1.02/min, P = .02). In 27 re-endocardialization patients, a combined closure strategy to close 184 defects were applied: transatrial re-endocardialization (median 5, range 2-21), patch (median 1, range 0-4), and device (range 0-1). Post-repair ventricular function was good in 25 of 27 patients. The median number of residual defects was 1.5 (range 0-3), and median residual jet width on color Doppler was 2.3 mm (range 0-4.2 mm). One child required a pacemaker. There were no early or late deaths. CONCLUSIONS: Outcome of surgical repair of multiple muscular ventricular septal defects (Swiss cheese septum) has improved. Transatrial re-endocardialization strategy enables early complete or nearly complete obliteration of multiple muscular ventricular septal defects with minimal residual lesions (shunt, ventricular dysfunction). Long cardiopulmonary bypass duration is well tolerated. The incidence of permanent heart block has improved. Early echocardiographic and clinical outcomes are promising.

Adolescent↗
PubMed1995

Effect of size of ventricular septal defect and age on pulmonary hemodynamics at sea level.

In 1,265 patients with isolated ventricular septal defects (Natural History Study of congenital heart defects, 1977), older children and adults were classified into those with and without pulmonary hypertension. To ascertain why relatively distinct pulmonary hypertensive and normotensive groups consisted of older children and adults, we reexamined the sea level cardiac catheterization data of 829 patients according to defect size (using the Gorlin formula) and patient age. In patients < 2 years of age, the average pulmonary vascular resistance was not significantly elevated and was not dependent on defect size. Pulmonary hypertension was due to increased blood flow, except for the 2.7% of patients with Eisenmenger-like physiology. For those > 2 years of age, both pulmonary arterial pressure and resistance were higher (p < 0.05) in patients with defect sizes of > 0.5 cm2/m2 than in those with smaller defects, and the Eisenmenger-like physiology was more common in older patients (17.4% in patients aged > 10 years). The group with distinctly higher pressure after 4 years of age reflected higher pulmonary vascular resistances in those in whom large defects persisted. However, 84% of patients aged > 4 years who underwent cardiac catheterization had smaller defects (< 0.5 cm2/m2), accounting for the group observed with low pressure.

Age Factors↗
PubMed2000

Transaortic closure of residual intramural ventricular septal defect.

BACKGROUND: Residual intramural ventricular septal defect is an unusual cause of left-to-right shunt after biventricular repair of conotruncal anomalies. It results from the insertion of the patch within the trabeculated right ventricular free wall related to the ventriculoinfundibular fold creating a communication through the intertrabeculated spaces to the right ventricular cavity. This complication often leads to unsuccessful reoperations unless the exact mechanism of the shunt has been identified. METHODS AND RESULTS: Five patients presented with residual intramural ventricular septal defects. Three had double outlet right ventricle, one pulmonary atresia with ventricular septal defect, and one tetralogy of Fallot. One patient was unsuccessfully reoperated on for closure of the residual ventricular septal defect through the right ventricular approach. The surgical treatment, which consisted of patch closure of the residual intramural ventricular septal defect through aortotomy, was successful in 3 patients. In the 2 remaining patients the hemodynamically insignificant residual intramural ventricular septal defect remained untouched. No mortality or morbidity occurred. CONCLUSIONS: Residual intramural ventricular septal defect should be suspected in presence of a residual ventricular septal defect after biventricular repair of conotruncal anomalies. It is not accessible through either atriotomy or right ventriculotomy. The transaortic approach allows an easy treatment of this rare complication.

Child↗