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PubMed1984

Systolic time intervals in isolated septal defects before and after corrective surgery in female patients. I. Atrial septal defect.

Systolic time intervals (STI) were evaluated in 19 female patients with uncomplicated ostium secundum atrial septal defect (ASD), before, shortly after (within 2 months) and a long time after the corrective surgery (mean 13.2 years). The measurements were obtained from simultaneous high speed photographic recordings of electrocardiogram, external carotid pulse and phonocardiogram. Before the operation, a significant prolongation of Q-I heart sound interval was detected, together with a less prominent but statistically significant shortening of the left ventricular ejection time; the above alterations were not correlated with the magnitude of the shunt and disappeared shortly after corrective surgery. The STI were still normal a long time after surgical closure of ASD. In accordance with hemodynamic studies reported by other authors, our results confirm that the deviations of STI observed in ASD are due to a reduced diastolic filling of the left ventricle secondary to an apparent decreased distensibility.

Adolescent↗
PubMed2003

Intracardiac echocardiography is superior to conventional monitoring for guiding device closure of interatrial communications.

BACKGROUND: This study sought to test whether intracardiac echocardiography (ICE) is superior to conventional monitoring in guiding device closure of interatrial communications (atrial septal defect [ASD] and patent foramen ovale [PFO]). METHODS AND RESULTS: Forty-four patients undergoing device closure of ASD (n=6) or PFO (n=38) were randomized to have the procedure guided by either ICE (group 1; n=22) or by transesophageal echocardiography (TEE) (group 2; n=22). All interventions were completed successfully. In 1 patient from group 2, atrial fibrillation occurred 1 day after device implantation; the patient was successfully cardioverted on the next day. There were no other complications. Fluoroscopy time (FT) (6.0+/-1.7 minutes versus 9.5+/-1.6 minutes; P<0.0001) as well as procedure time (PT) (33.4+/-4.7 minutes versus 37.8+/-5.6 minutes; P<0.01) were shorter in group 1 than in group 2. Group 2 patients required general anesthesia without (n=19) or with endotracheal intubation (n=3). In contrast, ICE allowed continuous monitoring of the whole procedure, including balloon sizing before device closure, without sedation. CONCLUSIONS: ICE is a safe tool to guide device closure of PFO and ASD. Supine patients tolerate ICE better than TEE. ICE reduces FT and PT. ICE seems to be advantageous, especially when long continuous or repeated echocardiographic viewing is required.

Atrial Fibrillation↗
PubMed2003

Cardiopulmonary bypass to repair an atrial septal defect does not affect cognitive function in children.

BACKGROUND: Changes in neurocognitive function after cardiopulmonary bypass (CPB) are difficult to assess in children with congenital cardiovascular malformations in part because identification of a suitable control group of children is difficult. METHODS AND RESULTS: We evaluated neurocognitive function in subjects aged 3 to 17 years both before and after surgical repair of an atrial septal defect (ASD). Eighteen subjects underwent testing within a median of 3 days (range, 1 to 27) before surgery and 5.8 months (range, 5.5 to 9) after surgery. The Differential Ability Scales was administered to subjects in a single testing session. All subjects were considered to be healthy, and they had no activity limitations. The mean General Conceptual Ability (GCA) scores (analogous to IQ) for the group were in the normal range before and after ASD repair. No significant difference was detected between the GCA scores before and after surgery. The GCA score was 90.8+/-18.6 before surgery and 93.1+/-16.3 after surgery. CONCLUSIONS: Use of CPB was not associated with changes in cognitive function in our subjects who underwent repair of an ASD.

Adolescent↗
PubMed1976

Familial atrial septal defect with prolonged atrioventricular conduction.

This report describes a family with frequent recurrence of congenital heart disease in multiple generations. Eight members had atrial septal defect (ASD) of the fossa ovalis type and seven members had other forms of congenital heart disease. One branch of the pedigree showed a predominance of ASD with prolonged atrioventricular (A-V) conduction and initially suggested an autosomal dominant gene effect. A variety of other forms of congenital heart disease were found in several first degree relatives of those with ASD as well as in more distant relatives. The variability of congenital heart disease in this pedigree is compatible with the polygenic mode of inheritance. Definition of the inheritability of congenital heart disease in a specific family has important consequences in the determination of the recurrence risks for all family members.

Adult↗
PubMed1977

Pre and postoperative ventricular function in infants and children with right ventricular volume overload.

Hemodynamic and ventricular volume parameters were evaluated in 21 patients (24 studies) with total anomalous pulmonary venous return (TAPVR), 11 patients with secundum atrial septal defect (ASD), and eight patients who had complete correction of TAPVR or ASD. Right and left ventricular (RV and LV) volume parameters were calculated according to Simpson's rule and the area length methods, respectively. In infants with TAPVR, RV end-diastolic volume was larger than normal, but RV ejection fraction was significantly less than normal. LV end-diastolic volume and LV ejection fraction were all less than normal in infants with or without pulmonary hypertension, and the values did not correlate with the cardiorespiratory symptoms. In children with TAPVR or ASD, RV end-diastolic volume and output were higher than normal preoperatively and decreased to normal or near normal values postoperatively. The data suggest that pulmonary venous obstruction and/or RV failure are responsible for cardiorespiratory symptoms in infants with TAPVR and early surgical intervention is recommended in these patients.

Blood Volume↗
PubMed1979

Contrast M-mode echocardiography in diagnosis of atrial septal defect in acyanotic patients.

Contrast echocardiograms during normal quiet respiration and during the Valsalva maneuver were performed in 15 patients with atrial septal defect (ASD) by injecting saline solution into an antecubital vein. Contrast shunting (the appearance of contrast echoes in the left heart) was observed not only in four patients with severe pulmonary hypertension (group 2), but also in 11 patients with uncomplicated ASD (group 1). Contrast shunting was prominent in all group 2 patients. In group 1, contrast shunting was sometimes subtle and difficult to recognize, but at other times was very obvious and similar to the findings in group 2. Contrast shunting was generally more pronounced during the Valsalva maneuver than during normal respiration, although there were exceptions. The amount of contrast appearing in the left heart did not correlate with the size of the defect. Small right-to-left shunts which are clinically insignificant but detectable by contrast echocardiography are present, or can be provoked by the Valsalva maneuver, in most patients with ASD. Contrast echocardiography is a useful, noninvasive method to detect interatrial communication, even in acyanotic patients.

Echocardiography↗
PubMed1980

The complementary roles of M-mode echocardiography and scintigraphy in the evaluation of adults with suspected left-to-right shunts. Additional observations on the role of two-dimensional echocardiography.

We sought to determine the relative clinical abilities and roles of echocardiography and scintigraphy in left-to-right shunt diagnosis. M-mode echocardiographic and scintigraphic studies were analyzed in 37 adults presenting diagnostic difficulties with suspected left-to-right shunts. The historic, physical, radiographic and electrocardiographic data were frequently ambiguous. An enlarged right ventricle on M-mode echocardiography was a sensitive (100%) but not specific (55%) indicator of atrial septal defect (ASD). M-mode lacked sensitivity for ventricular septal defect (VSD) and patent ductus arteriosus (PDA). In a few studies, two-dimensional echocardiography provided additional specific and clinically important anatomic information. Scintigraphic analysis demonstrated complete diagnostic accuracy and excellent localizing and quantitative abilities in all patients studied. Because it is extremely sensitive to ASD, free of any exposure to radioactivity, entirely noninvasive and may be simply and visually analyzed, echocardiography is the study of choice in the preliminary evaluation of patients presenting diagnostic difficulty with suspected ASD. Scintigraphy is the study of choice in the preliminary evaluation of patients presenting diagnostic difficulty with suspected VSD and PDA and is the logical response to the finding of echocardiographic right ventricular enlargement when the diagnosis remains in doubt.

Cardiac Catheterization↗
PubMed1984

Some immediate hemodynamic consequences of closure of atrial septal defects of the secundum type.

The circumclusion method for surgical closure of atrial septal defects (ASDs) of the secundum type makes it possible, during surgery, to close and reopen the defect as desired. In each of 23 patients the following statistically significant pressure and flow changes were found when the ASD was closed: increasing mean pressures in the ascending aorta (from 74 to 87 mm Hg), left atrium (from 10 to 18 mm Hg), and right pulmonary artery (from 20 to 24 mm Hg); increasing mean flows in the ascending aorta (from 84 to 111 ml/min/kg); decreasing mean pressures in the right atrium (from 9.0 to 7.7 mm Hg); and decreasing mean flows in the right pulmonary artery (from 78 to 46 ml/min/kg). Surprisingly, no correlation between shunt size determined before and during surgery was found. However, in the calculation of the intraoperative shunt, several factors might have contributed to an erroneous result. In 17 patients a right heart catheterization was performed in the third to thirteenth postoperative month and the following statistically significant changes from the intraoperative results with closed ASD were found: The intraoperative mean pressure in the left atrium (18 mm Hg) decreased to 7.3 mm Hg after surgery (pulmonary wedge pressure), the pulmonary arterial pressure decreased from 23 to 13 mm Hg, and the right atrial pressure from 8.2 to 1.6 mm Hg.

Adolescent↗
PubMed2006

Quantitative trait loci modifying cardiac atrial septal morphology and risk of patent foramen ovale in the mouse.

Atrial septal defect (ASD) is a common congenital heart disease (CHD) occurring in 5 to 7 per 10,000 live births. Mutations in 5 human genes (NKX2.5, TBX5, GATA4, MYHC, ACTC) are known to cause dominant ASD, but these account for a minority of cases. Human and mouse data suggest that ASD exists in an anatomical continuum with milder septal variants patent foramen ovale (PFO) and atrial septal aneurysm, strongly associated with ischemic stroke and migraine. We have previously shown in inbred mice that the incidence of PFO strongly correlates with length of the interatrial septum primum, defining a quantitative trait underlying PFO risk. To better understand genetic causation of atrial septal abnormalities, we mapped quantitative trait loci (QTL) influencing septal morphology using mouse strains (QSi5 and 129T2/SvEms) maximally informative for PFO incidence and 3 quantitative septal anatomical traits including septum primum length. [QSi5x129T2/SvEms]F2 intercross animals (n=1437) were phenotyped and a whole genome scan performed at an average 17-cM interval. Statistical methodology scoring PFO as a binary phenotype was developed as a confirmatory mapping technique. We mapped 7 significant and 6 suggestive QTL modifying quantitative phenotypes, with 4 supported by binary analysis. Quantitative traits, although strongly associated with PFO (P<0.001), correlated poorly with each other and in all but 1 case QTL for different traits were nonoverlapping. Thus, multiple anatomical processes under separate genetic control contribute to risk of PFO. Our findings demonstrate the feasibility of modeling the genetic basis of common CHD using animal genetic and genomic technologies.

Animals↗
PubMed2006

BioSTAR Evaluation STudy (BEST): a prospective, multicenter, phase I clinical trial to evaluate the feasibility, efficacy, and safety of the BioSTAR bioabsorbable septal repair implant for the closure of atrial-level shunts.

BACKGROUND: The use of permanent synthetic implants to close atrial septal defects (ASD) and patent foramen ovale (PFO) has a number of limitations, including late complications and the limiting of transeptal access to the left heart should it be required for the later treatment of acquired heart disease. BioSTAR is a novel, bioabsorbable, atrial septal repair implant. This phase I pilot study evaluates the feasibility, safety, and effectiveness of BioSTAR for the first time in humans. METHODS AND RESULTS: We conducted a prospective, open-label, multicenter clinical study in 58 patients aged 28 to 68 years who had a clinically significant ASD or PFO. Percutaneous shunt closure was undertaken with the BioSTAR septal repair implant. Successful device implantation was achieved in 57 (98%) of 58 patients. Closure at 30 days and 6 months, assessed by contrast transthoracic echocardiography, was 48 (92%) of 52 and 54 (96%) of 56, respectively. There was no evidence of a clinically significant response to the device. Transient atrial arrhythmia occurred in 5 patients after implantation. No major safety issues were observed. CONCLUSIONS: This study demonstrates the feasibility, safety, and effectiveness of BioSTAR for the closure of ASD and PFO in humans with a high rate of early and complete shunt closure. BioSTAR is a novel septal repair implant designed to provide biological closure of atrial-level defects using the patient's natural healing response. Because 90% to 95% of the implant is absorbed and replaced with healthy native tissue, future access to the left atrium may be achieved.

Absorbable Implants↗
PubMed1981

First heart sound in atrial septal defect.

This is a retrospective study of 25 patients with secundum-type of ASD, confirmed by catheterization and angiocardiography. As controls, 25 normal subjects of matching age were studied. The phonocardiograms and carotid pulses of the 2 groups were recorded and compared. Special attention was paid to the interval between the 2 main components (Ia and Ib) of the first heart sound, to the amplitude of both Ia and Ib, and to the relationship between carotid upstroke and first heart sound. All intervals between sound components of the patients with ASD were found similar to those of the controls. No increase in amplitude of Ib could be documented. The amplitude of the first heart sound relative to that of the second sound (measured from the ratio I/IIA) was similar to that of the controls, Finally, a slight precedence of aortic valve opening (obtained from the carotid upstroke time minus transmission time) over the second component of the first sound (Ib) was found both in ASD and in controls. In view of these facts, a tricuspid contribution to the mechanism of the b component of the first heart sound appears highly unlikely. On the other hand, this component seems closely related to the dynamic events (blood acceleration and walls deceleration in the aortic root) that follow the aortic valve opening.

Adolescent↗
PubMed1992

Inspiratory speech as a management option for spastic dysphonia. Case study.

A case study is reported of a subject who has used inspiratory speech (IS) for 6 years as a means of overcoming the communication problems of long-standing adductor spastic dysphonia (ASD). The subject was studied to confirm his use of IS, determine the mechanisms of its production, investigate its effects on ventilatory gas exchange, and confirm that it was perceptually preferable to ASD expiratory speech (ES). Results showed that the production and control of a high laryngeal resistance to airflow were necessary for usable IS. Voice quality was quantitatively and perceptually poor; however, the improved fluency and absence of phonatory spasm made IS the preferred speaking mode for both the listener and the speaker. Transcutaneous measurements of the partial pressures of oxygen and carbon dioxide in the subject's blood were made during extended speaking periods. These measurements indicated that ventilation was unchanged during IS, and that ventilation during ES was similar to the "hyperventilation" state of normal speakers. The reasons for the absence of phonatory spasm during IS are discussed, and the possibility of its use as a noninvasive management option for other ASD sufferers is addressed.

Airway Resistance↗
PubMed2005

MMPI-2 personality profiles of high-functioning adults with autism spectrum disorders.

The Minnesota Multiphasic Personality Inventory-Second Edition was administered to 20 adults with autism spectrum disorders (ASD) who fell in the average to above average range of intelligence and 24 age-, intelligence-, and gender-matched college students. Large group differences, with the ASD group scoring higher, were found on the L validity scale, Clinical Scales 2 (D) and 0 (Si), Content scale Social Discomfort (SOD), Supplementary scale Repression (R), and Personality Psychopathology Five (PSY-5) scale INTR (Introversion). The proportion of ASD adults scoring in the clinical range on these scales was between 25% and 35%. High scores on these scales are consistent with the clinical picture of Asperger syndrome and high-functioning autism in adulthood. Future directions and implications for identifying adults in need of a specialized autism assessment are discussed.

Adolescent↗
PubMed2002

Family system and coping behaviors: a comparison between parents of children with autistic spectrum disorders and parents with non-autistic children.

The study deals with strain on the family system, as well as the level of coping and types of coping behavior of the parents, in families with a child diagnosed as having an autistic spectrum disorder (ASD) as compared to families in a control group. Thirty-seven families and 66 parents were involved in each case, and four psychological tests were used. It was found that lower levels of coping were associated with higher levels of strain on the family system, that the level of strain on the family system was greater in the families with a child with an ASD, and that the two groups differed in their pattern of coping behavior. It is argued that limited contact between the child with an ASD and its parents, claimed earlier to be a cause of autism, can be explained in terms of strain on the family system and the resulting pattern of coping.

Adaptation, Psychological↗
PubMed2003

Prevalence of chronic gastrointestinal symptoms in children with autism and autistic spectrum disorders.

The purpose of this study was to estimate the prevalence of chronic gastrointestinal symptoms in a general population of children with autism or autistic spectrum disorder (ASD). The study site was a clinic specializing in ASD in a large pediatric medical center serving a 10 county area in the midwestern USA. In a sample of 137 children, age 24-96 months, classified as having autism or ASD by the Autism Diagnostic Observation Schedule-Generic, 24 percent had a history of at least one chronic gastrointestinal symptom. The most common symptom was diarrhea, which occurred in 17 percent. There was no association between chronic gastrointestinal symptoms and a history of developmental regression. The potential phenotypic association between autism and gastrointestinal symptoms is discussed.

Abdominal Pain↗
PubMed2004

Autism in Angelman syndrome: an exploration of comorbidity.

The aim was to explore the comorbidity between Angelman syndrome and autism spectrum disorders (ASDs). Identification of autism in children with Angelman syndrome presents a diagnostic challenge. In the present study, 16 children with Angelman syndrome, all with a 15q11-13 deletion, were examined for ASDs. Thirteen children with Angelman syndrome received an ADOS-G algorithm classification of ASD; the remaining three were outside the autistic spectrum. Ten fulfilled the criteria for autism, and three for PDD-NOS. The 10 children with Angelman syndrome and comorbid autism were compared with eight children with only autism regarding their social and communicative skills. The results indicated that Angelman syndrome is better understood in terms of developmental delay, and autism in terms of developmental deviance. It is concluded that autism might have been overdiagnosed due to the extremely low mental age of the children with Angelman syndrome.

Adolescent↗
PubMed2004

Mothers supporting children with autistic spectrum disorders: social support, mental health status and satisfaction with services.

Parents of children with autistic spectrum disorders (ASDs) are more likely to experience serious psychological distress than parents of children with other developmental disabilities. To examine the impact of a range of factors on psychological wellbeing, interviews were undertaken with 68 mothers of children with ASDs to explore aspects of social support, mental health status and satisfaction with services. Findings indicated that over half of mothers screened positive for significant psychological distress and that this was associated with low levels of family support and with bringing up a child with higher levels of challenging behaviour. Mothers were more likely to report lower levels of support if they were a lone parent, were living in poor housing, or were the mother of a boy with ASD. The study also investigated areas of useful support and areas of unmet need, the latter including care breaks and advice needs.

Adult↗
PubMed2006

Sensory and attention abnormalities in autistic spectrum disorders.

Individuals with autistic spectrum disorders (ASDs) often experience, describe and exhibit unusual patterns of sensation and attention. These anomalies have been hypothesized to result from overarousal and consequent overfocused attention. Parents of individuals with ASD rated items in three domains, 'sensory overreactivity', 'sensory underreactivity' and 'sensory seeking behaviors', of an expanded version of the Sensory Profile, a 103-item rating scale developed for the present study. Parents also rated symptom severity, overselective attention and exceptional memory, and completed the Vineland Adaptive Behavior Scales. Of 222 rated subjects, 144 had complete data. Cluster analysis showed the predicted overfocused pattern of sensation and attention, comprising overreactivity, perseverative behavior and interests, overfocused attention and exceptional memory in 43 percent of this sample. This pattern was striking in 10 percent. The neurological basis of overreactivity and overfocusing is discussed in relation to the overarousal hypothesis. Attention is drawn to its considerable prevalence in the ASD population.

Adolescent↗