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PubMed1996

Role of transforming growth factor beta (TGF-beta) in repairing of bone defects.

TGF-beta is a multifunctional cytokine that regulates many aspects of cellular function, including periosteal mesenchymal cell proliferation, differentiation. This experiment is to study its effects on bone defect repair. A rabbit radial bone defect model was used to evaluate the effect of TGF-beta, which was extracted and purified from bovine blood platelets, on the healing of a large segmental osteoperiosteal defect. A 1.5-centimeter segmental defect was created in the mid-upper part of the radial shaft of adult rabbits. The defect was filled with implant containing TGF-beta that consisted of carrier and bovine TGF-beta. Limbs served as controls received carrier alone. The defects were examined radiographically and histologically at 4, 8, 12, 16 and 20 weeks after implantation. The results showed that in TGF-beta implant group, the defect areas at 12 weeks post operation were bridged by uniform new bone and the cut ends of cortex could not be seen; while in control group, the defects remained clear. Only a small amount of new bone formed as a cap on the cut bone ends. In the experimental group, new lamellar and woven bone formed in continuity with the cut ends of the cortex. An early medullar canal appears to be forming and contained normal-appearancing marrow elements; while the control group displayed entirely fibrous tissue within the defect site. Remnants of the cancellous bone carrier were observed in the control specimen. These data demonstrate that exogenous TGF-beta initiate osteogenesis and stimulate the bone defects repair in animal model.

Animals↗
PubMed1997

Visual field defects in patients with pituitary adenomas.

BACKGROUND: The most common objective manifestations of pituitary adenoma are visual, including impairment of a visual field and loss of acuity. The characteristic visual field defect caused by pituitary adenomas with suprasellar extension is bitemporal hemianopsia. The present study was undertaken to determine the relationship between a visual field defect and the chiasma compression caused by pituitary adenomas. METHODS: Between January 1994 and December 1996 within the Department of Neurosurgery at the Neurological Institute of Veterans General Hospital-Taipei, 70 patients with pituitary adenoma were selected. Their medical records and radiological films were reviewed. The qualified visual field scores were compared with the chiasma compression levels measured from computed tomography, sagittal and coronal magnetic resonance (MR) imaging. The relationships of pathological diagnosis as well as history of prior operations with visual field defect score were also evaluated. RESULTS: patients with a pathological diagnosis of a non-functional pituitary adenoma or with a history of prior operation for the pituitary adenoma had the more severe visual field defect. The chiasma compression level, no matter measured from computed tomography, sagittal MR or coronal MR imaging, was correlated significantly with the visual field defect. The correlation coefficient was 0.764 from computed tomography, 0.688 from sagittal MR imaging, and 0.717 from coronal MR imaging. The visual field defect was present mostly when the chiasma compression exceeded a certain level when measured from computed tomography, sagittal MR and coronal MR imaging. On the other hand, variation in chiasma type had little effect on the appearance and degree of a visual field defect. CONCLUSIONS: There was a linear correlation between a visual field defect and the chiasma compression no matter whether measured from computed tomography or from MR imaging. The visual field defect occurred mostly when the chiasma compression exceeded a certain level. A more severe visual field defect appeared in patients with nonfunctional pituitary adenoma or those with a prior operation history for the pituitary adenoma.

Adenoma↗
PubMed1989

Hemodynamics in transposition of the great arteries with comparison to ventricular septal defect.

This paper uses a mathematical model of the circulations to study the hemodynamics of transposition of the great arteries (TGA) with comparison to ventricular septal defect (VSD). Computer experiments are conducted to determine the influence of the defect conductance and the pulmonary vascular conductance on the pulsatile pressures, flows, and oxygen concentrations of the circulation. In particular, the model is used to determine the waveform of the (possibly bidirectional) shunt through the ventricular and atrial septal defects. The results of the computer experiments consist of two parts. The first set of experiments is devoted to the comparison of VSD and TGA with a ventricular septal defect. The results are theoretical in the sense that most parameters have been fixed at the same levels. In each case TGA is represented by changing the connection of the chambers and reversing the compliance of the two ventricles. In the second set of experiments we attempt to simulate conditions clinically observed in a variety of cases of TGA. In each case we use clinical observations to infer parameters as the input to the model. We find that the model (with appropriate choice of parameters) generally exhibits blood pressure, blood flows and oxygen concentrations similar to the clinical observations. As a byproduct of these computer experiments we predict the effects of changing the pulmonary conductance. The comparison between TGA and VSD shows that as the defect conductance increases, the systemic oxygen concentrations decrease in VSD and increase in TGA. Even at large defect conductance, the two conditions remain distinct, however, since the mixing of the right and left ventricular blood pools is incomplete. This phenomenon of incomplete mixing sets quantitative limits on the benefits that can be achieved by surgical enlargement of the defect. A result of this study that may be useful in the management of TGA patients with a ventricular septal defect is the finding that there is a value of the pulmonary conductance that maximizes the effective flow and hence the systemic oxygen concentrations. The optimal pulmonary conductance is approximately equal to the systemic conductance when the defect is large.

Computer Simulation↗
PubMed1997

Development of a lethal congenital heart defect in the splotch (Pax3) mutant mouse.

OBJECTIVE: The splotch (Sp2h) mutation disrupts the Pax3 gene and is lethal in homozygotes. The aim of the present study was to investigate the cause of lethality. METHODS AND RESULTS: Using the splotch (Sp2H) mouse mutant, we demonstrated that approximately 60% of Sp2H homozygotes die in utero at 13.5-14.5 days of gestation. All these embryos have cardiac malformations involving partial or complete failure of septation of the outflow tract. Although the cause of death in utero is unknown, the dying embryos are edematous, their superior caval veins are over-expanded, and the fetal liver is enlarged and engorged with blood, all signs of cardiac failure. The remaining Sp2H homozygotes die around the time of birth, and these embryos have grossly normal hearts. All Sp2H homozygotes have neural tube defects, either spina bifida, exencephaly, or both. Although these defects clearly do not cause death in utero, they are very likely responsible for the perinatal death of homozygotes that survive to late gestation. There is no correlation between the presence or absence of a cardiac defect and the type of neural tube defect. On the other hand, there is a striking correlation between presence of a cardiac defect and reduction or absence of dorsal root ganglia, which are derivatives of the neural crest. CONCLUSIONS: In this paper, we show that the lethality has a biphasic pattern, and the data strongly suggests that mid-gestation lethality is due to cardiac defects and not the associated neural tube defects. This finding supports the idea that 'conotruncal' cardiac defects involving the ventricular outflow tracts develop as a result of failure of the 'cardiac' neural crest to colonise the developing heart in the mid-gestation embryo, and that the resulting heart defects are solely responsible for the observed mortality.

Animals↗
PubMed2004

A ten year review of atrioventricular septal defects.

OBJECTIVES: To review all cases of atrioventricular septal defects in Northern Ireland from January 1990 to February 1999, examining clinical and morphological features, management, and outcome. METHODS: A retrospective case note analysis of 106 subjects with comparisons between subgroups. RESULTS: An atrioventricular septal defect was part of a more complex abnormality in 50 of the patients (47%). Down's syndrome was present in 57 (54%). Cardiac surgery was performed in 81%. The defects were unrestrictive in 69 patients (65%), 45 of whom had Down's syndrome. Complex associated abnormalities existed in 36 patients, and 10 of these died without cardiac surgery. Operative mortality was 9.5% for those with co-existing Down's syndrome group, and 14.3% for the chromosomally normal patients. The ventricular components of the septal defect were restrictive in 23 patients (22%), with 9 having Down's syndrome. Spontaneous closure occurred in more than half of these patients. Mortality was zero. The septal defect was exclusively at atrial level in 14 patients ("primum" defects--13%), and 3 of these had Down's syndrome. Operative mortality was again zero. Median duration of postoperative follow-up was 3 and a half years. Overall, moderate to severe left atrioventricular valvar regurgitation was observed postoperatively in 23% at follow-up. CONCLUSIONS: Mortality was highest in the atrioventricular septal defects with an unrestrictive ventricular component. Uncomplicated cases had good outcomes. Patients without Down's syndrome tended to have more associated cardiac abnormalities, and to have more postoperative arrhythmias. Approximately half of the defects with restrictive ventricular components closed spontaneously. Moderate postoperative left atrioventricular valvar regurgitation was commonest in patients with the defect exclusively at atrial level.

Birth Weight↗
PubMed1988

The cross sectional anatomy of ventricular septal defects: a reappraisal.

The cross sectional echocardiographic description of holes in the ventricular septum has been unsatisfactory, chiefly because there are so many classifications of this defect. The accurate description of the anatomy of individual defects, from cross sectional images, is more important than attempts to fit them into a preconceived classification. One hundred specimens of hearts with a ventricular septal defect were reviewed to identify those features that are of value in the interpretation of cross sectional images. Three groups of defect were identified: those which abutted the central fibrous body, those with a margin partly formed by an area of fibrous continuity between the leaflets of the aortic and pulmonary valves, and those with entirely muscular margins. Each group had features that were readily discernible in cross section. Other features of the defects seen in the cross sectional images identified defects that opened between the two ventricular inlets, defects that opened between the two subarterial outlets, and those that extended solely into the trabecular septum. The criteria for describing the anatomy of defects were established in hearts with normal connections, but they were found to be equally applicable in hearts with discordant atrioventricular connection, discordant ventriculoarterial connection, common arterial trunk, and double outlet from the morphologically right ventricle. Cross sectional imaging, by echocardiography and potentially by other techniques, provided a uniquely detailed and precise description of the morphology of ventricular septal defects.

Abnormalities, Multiple↗
PubMed2000

The crochetage pattern in electrocardiograms of pediatric atrial septal defect patients.

OBJECTIVES: To test the sensitivity and specificity of the crochetage pattern (a notch near the apex of the R wave in electrocardiographic inferior limb leads) in the pediatric electrocardiogram for detecting patients with a secundum atrial septal defect. PATIENTS AND METHODS: Electrocardiograms from 82 consecutive preoperative pediatric patients with a secundum atrial septal defect confirmed by two-dimensional echocardiography were reviewed for evidence of right ventricular hypertrophy and the crochetage pattern. These electrocardiograms were compared with 244 consecutive preoperative controls consisting of patients with echocardiographically proven patent foramen ovale, ventricular septal defect, pulmonary stenosis, tetralogy of Fallot and patients with normal echocardiogram studies. RESULTS: The electrocardiographic crochetage pattern was observed in 31.7% of preoperative patients with a secundum atrial septal defect in at least one inferior limb lead. The specificity of the crochetage pattern for the detection of a secundum atrial septal defect was high when present in all three inferior limb leads (greater than 92%). The crochetage pattern in at least one lead in secundum atrial septal defects shows no association with incomplete right bundle branch block (c2(1)=0.80, not significant), and thus these two findings together do not improve the detection of an atrial septal defect. CONCLUSIONS: The sensitivity and specificity of the electrocardiographic crochetage patterns in at least one inferior limb lead in echocardiographically proven secundum atrial septal defects are 31.7% and 86.1%, respectively. The electrocardiographic crochetage or notching pattern in inferior limb leads has a high specificity for atrial septal defects in the pediatric population.

Bundle-Branch Block↗
PubMedDate not supplied

Dynamic three-dimensional echocardiographic reconstruction of congenital cardiac septation defects.

Dynamic three-dimensional echocardiographic reconstructions of 27 cardiac septation defects were performed in 19 sedated infants and children. Using a subxiphoid rotational scanning approach, complete visualization of the entire shape and breadth of the defect was attained in 11 of 16 ventricular septal defects and 9 of 11 atrial septal defects. This technique enabled the operator to cut slices from the three-dimensional block of echocardiographic data in order to present septation defects in a region- or lesion-oriented fashion. Poor baseline two-dimensional image quality and certain small septation defects that were readily obscured by nearby structures led to inadequate three-dimensional reconstructions. The application of dynamic three-dimensional echocardiography for assessment of cardiac septation defects uniquely provided (1) the ability to present en face views of atrial and ventricular septal defects; and (2) a means by which intracardiac anatomy can be displayed in a region- and lesion-oriented fashion for interventional and surgical planning purposes.

Adolescent↗
PubMed1998

Associated malformations in infants and fetuses with upper or lower neural tube defects.

The paper describes associated malformations in infants born with neural tube defects (N = 3,809) from three large malformation registers and in fetuses aborted because of a diagnosed neural tube defect (N = 748) from two of the registers. In infants, upper spina bifida and encephalocele are more often associated with non-neural malformations than anencephaly or lower spina bifida. Aborted fetuses with spina bifida or encephalocele have associated malformations registered more often than infants with those neural tube defects, but the opposite is true for anencephaly. The degree of detail of the investigation of an aborted specimen or a perinatally dead infant will contribute to such differences but they can also depend on the fact that prenatal detection may be facilitated by the simultaneous presence of other malformations like body wall defects. Also, fetuses with many malformations may be more prone to abort spontaneously late in pregnancy. Variable prenatal diagnosis may, therefore, explain population differences in the pattern of associated malformations. The type of associated malformation differs with the level of the neural tube defect: this could be due to different causal mechanisms or be a question of cranio-caudal level and/or timing. For limb reduction defects, however, we did not find any association between upper limb and upper neural tube defects or lower limb and lower neural tube defects. These findings together with other epidemiological data support the idea that upper and lower neural tube defects may have different significance in epidemiological studies and should be treated separately.

Abnormalities, Multiple↗
PubMed2002

Chlorination byproducts and nitrate in drinking water and risk for congenital cardiac defects.

Drinking water disinfection byproducts have been associated with an increased risk for congenital defects including cardiac defects. Using Swedish health registers linked to information on municipal drinking water composition, individual data on drinking water characteristics were obtained for 58,669 women. Among the infants born, 753 had a cardiac defect. The risk for a cardiac defect was determined for ground water versus surface water, for different chlorination procedures, and for trihalomethane and nitrate concentrations. Ground water was associated with an increased risk for cardiac defect when crude rates were analyzed but after suitable adjustments this excess rate was found to be determined by chlorination procedures including chlorine dioxide. Chlorine dioxide appears itself as an independent risk factor for cardiac defects (adjusted odds ratio 1.61 (95%CI 1.00-2.59)). The risk for cardiac defects increased with increasing trihalomethane concentrations (P=0.0005). There was an indicated but statistically nonsignificant excess risk associated with nitrate concentration. The individual risk for congenital cardiac defect caused by chlorine dioxide and trihalomethanes is small but as a large population is exposed to public drinking water, the attributable risk for cardiac defects may not be negligible.

Adult↗
PubMed2003

The epidemiology of cardiovascular defects, part 2: a study based on data from three large registries of congenital malformations.

There were three objectives of this study: to investigate possible specificity in the association between specific cardiac defects and chromosomal anomalies; to evaluate ways of categorizing cardiac defects into larger groups with epidemiological similarities that could indicate similarities in etiology or pathogenesis; and to analyze the relationship between specific cardiac defects and diabetes. We pooled data on infants (aged 1 year or younger) with congenital cardiovascular defects from three large birth defect registries in California, Sweden, and France. The registries in Sweden and France obtained data through reporting from various sources; in California, medical records were reviewed. For severe congenital heart defects, the percentage of infants with identified chromosomal anomalies varied between 0.9% for d-TGV to 68.4% for ECD. In general, specific cardiac conditions have different risk factors. For example, conotruncal defects have been traditionally grouped, but the data presented in this paper indicates more differences for risk factors for the components of conotruncal defects: tetralogy of Fallot, d-TGV, common truncus, and DORV. In general, we suggest the strategy of "splitting" rather than "lumping" when searching for specific genetic factors and/or teratogens. Adequate analysis thus requires large registries or collaboration among registries. The findings did not support constellations between mothers' diabetes and specific defects.

Abnormalities, Drug-Induced↗
PubMed2000

[Interventional occlusion of atrial septum defects larter than 20 mm in diameter].

UNLABELLED: Over the last few years, various devices for the interventional closure of atrial septal defects (ASD) up to a diameter of 20 mm have been developed. We report our clinical experience in closing ASD with a diameter larger than 20 mm diameter with the Amplatzer Septal Occluder (ASO). METHOD: The stretched diameter of the ASD was measured by inflating a sizing balloon within the defect until an indentation in the circumference in the balloon could be observed. An ASO with a stent diameter 2-4 mm larger than the indentation in the circumference of the balloon was chosen and implanted via 9-12 French sheaths. In contrast to the closure of smaller defects, pullback of the device onto the atrial septum was only performed when the connecting stent of the ASO was completely deployed in order to achieve maximal centering characteristics and optimal support of the retention skirt of the left atrial disc on the edges of the defect. Only then was the right atrial disc deployed and actively configured by advancing the sheath and the delivery cable against the atrial septum. Implantation was only attempted if the atrial septal rims (except the anterior rim around the aorta) measured more than 7 mm by echocardiography to avoid injury or disturbance of sensitive intracardiac structures. After placement, the fixation of the device and the mechanical stability was proven by an extensive "Minnesota wiggle". The ASO was released only when TEE showed no or a trivial residual color flow through the connecting stent; otherwise repositioning was performed. RESULTS: Out of 352 patients (P) with successful closure of interatrial defects, 70 P (age: 1.1-77.3 years) had stretched defects larger than 20 mm diameter (median 22 mm diameter (20-36), 25/75% quartiles = 20/26 mm). Mean shunt size was Qp:Qs 2.1:1 (0.7-3.9:1), mean fluoroscopy time 10.9 min (0-63). Complete closure could be achieved in 85.7/93.1/100% after 3 months, 1 and 2 years, respectively. Besides 3 P with persistent atrial fibrillation, only 5 P showed transient atrial tachyarrhythmias, 2 only periprocedural and 3 within the first 3 months after implantation were treated with beta-blocker. In one patient, an acute embolization of the device occurred because a diminished posterior rim was not visualized by a monoplane TEE probe necessitating surgical explantation and defect occlusion. Despite oversizing the device, no "mushrooming" misconfiguration were observed. CONCLUSION: Transcatheter closure of large atrial septal defects with the Amplatzer Septal Occluder is feasible, safe and effective. Risk of complications do not seem to occur more frequently than after closure of smaller defects if one adheres to certain sizing and implantation measures. The incidence of transient atrial tachyarrhythmias seems to be low.

Adolescent↗
PubMed1981

Ventricular septal defect in infancy: detection with two dimensional echocardiography.

To determine the sensitivity and specificity of two dimensional echocardiography in detecting ventricular septal defect two dimensional echocardiograms were performed on 53 infants under 1 year of age. The diagnosis of ventricular septal defect was confirmed by cardiac catheterization in 27 patients; an intact ventricular septum was confirmed by catheterization in 18 and clinically in 8. Using a 35 degree mechanical sector scanner with a 3.5 megahertz transducer, we imaged the ventricular septum in the long axis and in a four chamber view (apical or subcostal, or both). Images were recorded on videotape and reviewed independently by two observers unaware of the diagnosis. Interobserver agreement was 94 percent. Among the 27 patients with a ventricular septal defect, the lesion was correctly identified in 20 (74 percent) and was undetected in 7 (3 of whom had a defect less than 4 mm in diameter, as determined by angiography). No defect less than 4 mm in diameter was detected. Among the 26 patients with an intact septum, a defect was correctly excluded in 23 (88 percent); a false positive diagnosis was made in 3. The apical and subcostal views demonstrated the greatest number of defects (20 of 20), but also gave the highest number of false positive diagnoses (3 of 3). The long axis view was helpful when positive, but showed only 9 of 20 of the defects. In this study, two dimensional echocardiography detected approximately three fourths of ventricular septal defects large enough to warrant cardiac catheterization in the 1st year of life. False positive diagnoses were related to dropout of echoes in the membranous septum when imaged in the four chamber views.

Cardiac Catheterization↗
PubMed1985

Morphological characteristics of perimembranous ventricular septal defects and their surgical significance.

The recognition of perimembranous ventricular septal defects and their subcategorization into inlet, outlet and trabecular types is important surgically because of the information it gives concerning the relationship with the atrioventricular conduction bundle. Inlet and outlet defects are well defined. The trabecular defect, in contrast, is less well defined. To obtain a better understanding of the perimembranous trabecular defect we studied 30 hearts, each having a ventricular septal defect known to be perimembranous. Of these 30 hearts, 16 were classified as inlet and 10 as outlet types. The "in between" trabecular defect in each of the remaining four hearts was slit-like, extending from the membranous septum into the area of the medial papillary muscle complex. Each was associated with a complex arrangement of the adjacent tricuspid valve leaflet tissues. In three hearts, leaflets and chords were attached to both the upper and lower rim of the defects. In the other specimen a shelf-like anomalous leaflet attachment was present along the lower rim. The atrioventricular conduction tissues were studied in two of the hearts, showing a close relation between the conduction bundle and the rim of the defect and the anomalous tricuspid valve leaflet attachments. In one case a most unusual disposition was encountered. A fan-like right bundle originated from the main axis at the same level as the origin of the left bundle branches. The anomalous fan penetrated into the connective tissue core of the valve leaflet. The bundle was then traced anteriorly to its usual intramyocardial position. The observed features of perimembranous trabecular ventricular septal defects warrant further caution should they require surgical repair.

Heart Conduction System↗
PubMed1987

Cross-sectional echocardiography with pulsed and continuous wave Doppler in the management of ventricular septal defects.

We designed this study in order to evaluate those cross-sectional echocardiographic projections of most value in the diagnosis of ventricular septal defects and to compare the techniques of cross-sectional and Doppler echocardiography in these lesions. We studied 71 cases with ventricular septal defects confirmed by cross-sectional and/or pulsed Doppler echocardiography. The defect was imaged by cross-sectional echocardiography in 49 patients but not imaged in 22. In the group of 49 patients, except two with pulmonary hypertension, pulsed Doppler enabled us to detect a left-to-right shunt at ventricular level. In the second group of 22 patients, a positive pulsed Doppler signal was detected in the ventricles although no defect was visualized. Pulsed Doppler examination supplemented the information detectable from cross-sectional echocardiography in small defects; in the diagnosis of multiple septal defects; in the presence of aortic valve regurgitation in doubly committed and subarterial defects; in those having residual shunts after surgical correction; and in those with tricuspid valve regurgitation in the setting of perimembranous defects. Continuous wave Doppler cannot always be reliably employed in the evaluation of transventricular pressure gradient because of a failure to align with the jet in the presence of poor signals. The sub-costal oblique projections and the introduction of the right oblique sub-costal view proved, in our hands, to be the most important tools for identifying and classifying the various types of ventricular septal defect.

Adolescent↗
PubMed2005

Nuchal translucency and fetal cardiac defects: a pooled analysis of major fetal echocardiography centers.

OBJECTIVE: Increased fetal nuchal translucency is associated with increased risk for congenital heart defects. In the present study, we aimed to investigate whether fetal nuchal translucency distribution differs among different types of congenital heart defects and whether it can lead to an earlier diagnosis. STUDY DESIGN: Four fetal echocardiography units provided data on fetuses with a congenital heart defect diagnosis in whom nuchal translucency thickness had been measured in the first trimester. Nuchal translucency data were compared per chromosomal status and type of congenital heart defect. Data on gestational age at diagnosis were also analyzed. RESULTS: Six hundred thirty-seven cases of congenital heart defect with known karyotype and exact nuchal translucency measurements were analyzed. Nuchal translucency was > or =3.5 mm in 22.9% of chromosomally normal fetuses (n = 397) and 58.8% of chromosomally abnormal cases (n = 240). Among fetuses with normal karyotype, the proportion of cases of congenital heart defect with increased nuchal translucency was similar in each of the subtypes of congenital heart defect (P = .96). Mean gestational age at diagnosis of congenital heart defect in fetuses with normal karyotype was 22.1 weeks with nuchal translucency of <3.5 mm and 16.1 weeks with nuchal translucency of > or =3.5 mm. CONCLUSION: Finding nuchal translucency of > or =3.5 mm may lead to an earlier diagnosis of all major types of congenital heart defects.

Echocardiography↗
PubMed2005

Elevated first-trimester nuchal translucency increases the risk of congenital heart defects.

OBJECTIVE: We sought to evaluate the association between first trimester nuchal translucency measurement and the risk for major congenital heart defect in chromosomally normal fetuses. STUDY DESIGN: First trimester (10 weeks 4 days of gestation to 13 weeks 6 days of gestation) nuchal translucency was obtained in a large prospective multicenter National Institute of Child Health and Human Development study for Down syndrome prediction. The study, which was conducted between May 1998 and December 2000, was restricted to singleton pregnancies. Gestational age was determined by crown rump length measurements. Perinatal outcomes were determined and included the frequency of major congenital heart defect, which was defined as those cases that potentially could require surgery, intensive medical therapy, or prolonged follow-up time. Logistic regression analysis was used to determine whether nuchal translucency was a significant predictor of congenital heart defect. RESULTS: There were 8167 chromosomally normal pregnancies, of which 21 cases of major congenital heart defect were identified at follow-up examination (incidence, 2.6/1000 pregnancies). The risk of congenital heart defect rose with increasing nuchal translucency measurements. The mean nuchal translucency value for the normal and congenital heart defect groups were 1.5 mm and 1.9 mm, respectively (P = .05). With a nuchal translucency measurement of < 2.0 mm, the incidence of congenital heart defect was 13 of 6757 pregnancies (1.9 of every 1000 pregnancies). At 2.0 to 2.4 mm, the incidence was 5 of 1032 pregnancies (4.8 of every 1000 pregnancies). At 2.5 to 3.4 mm, the incidence was 2 of 335 pregnancies (6.0 of every 1000 pregnancies). At > or = 3.5 mm, the incidence was 1 of 43 pregnancies (23 of every 1000 pregnancies). Logistic regression analysis confirmed that nuchal translucency was associated significantly with congenital heart defect (odds ratio, 2.1; 95% CI, 1.4-3.1; P = .0004). CONCLUSION: Increased first trimester nuchal translucency measurement was associated with a higher risk of major congenital heart defect in chromosomally normal pregnancies. The practical implications of our findings are that patients with unexplained elevations of nuchal translucency may need referral for a fetal echocardiogram.

Adult↗
PubMed2004

Echocardiographic characteristics of secundum-type atrial septal defects in adult patients: implications for percutaneous closure using Amplatzer septal occluders.

The aim of the study was to analyze echocardiographic characteristics of isolated secundum-type atrial septal defects (ASD II) in adult patients and their implications for percutanous closure using Amplatzer septal occluders. The study population consisted of 64 consecutive adult patients with isolated ASD II (mean age 43.6 +/- 15.9 years). Patients were evaluated using both transthoracic and transesophageal echocardiography. Defects in 29 of 64 patients (45.3%) fulfilled the echocardiographic criteria for percutaneous closure. The mean defect diameter in the study was 22.2 +/- 9.5 mm. In all, 13 morphologic variations of ASD II were detected. A statistically significant correlation between defect size and the number of deficient defect rims was found. Less than 50% of ASD II in adult patients fulfilled the echocardiographic criteria for percutaneous closure using Amplatzer septal occluders. Because others have demonstrated growth of ASD II over time, we presume that in some patients, defect growth is associated with attenuation or even disappearance of defect rims causing changing defect morphology with increasing defect size.

Adult↗