Great Arteries (great + artery)

Distribution by Scientific Domains
Distribution within Medical Sciences


Selected Abstracts


Pulmonary Hypertension in Patients after Repair of Transposition of the Great Arteries

CONGENITAL HEART DISEASE, Issue 2 2010
Ellen Chan MD
ABSTRACT One well-documented complication of unrepaired d-transposition of the great arteries (d-TGA) is progressive pulmonary vascular disease. It is generally accepted that pulmonary vascular disease will not develop if d-TGA repair is performed early in life. Herein, we report a number of repaired d-TGA, especially in older patients with Mustard/Senning procedures, in whom pulmonary vascular disease developed years after their original repair. The etiology of this phenomenon is unknown, warranting further investigation. Our case reports highlight an overlooked, possible long-term complication following d-TGA repair. From this experience, we recommend that evidence of progressive pulmonary vascular disease may need to be regularly sought during the follow-up of patients after d-TGA repair, especially Mustard/Senning repairs, as early treatment of pulmonary hypertension may improve long-term clinical outcomes. [source]


Late Presenters with Dextro-transposition of Great Arteries and Intact Ventricular Septum: To Train or Not to Train the Left Ventricle for Arterial Switch Operation?

CONGENITAL HEART DISEASE, Issue 6 2009
Noor Mohamed Parker MBChB
ABSTRACT Objective., We report our experience in managing late presenters (older than 4 weeks) with dextro-transposition of great arteries and intact ventricular septum (d-TGA/IVS) in an effort to achieve successful arterial switch operation (ASO) in a third world setting. Design., We retrospectively reviewed the charts of all late presenters with d-TGA/IVS. Patients were divided into two groups: left ventricular training (LVT) group and non-left ventricular training (non-LVT) group. LVT group underwent pulmonary artery banding and Blalock-Taussig Shunt prior to ASO. Results., Twenty-one late presenters were included in the study. In LVT group, 11 patients with median age of 6 months (range, 1,72 months) underwent LVT. Later, 8 patients with median age of 9.25 months (range, 1.33,84 months) underwent ASO. Prior to ASO, left ventricle (LV) collapse resolved in all and left ventricle to systemic pressure (LV/SP) ratio was 0.81 (range, 0.76,0.95) in 4 patients. Two patients who had LVT for ,14 days required postoperative extracorporeal membrane oxygenation (ECMO) support due to LV dysfunction. Seven patients survived to discharge. In non-LVT group, 10 patients with median age of 2.5 months (range, 1,98 months) underwent ASO. Five patients had LV collapse, and median LV/SP ratio was 0.67 (range, 0.56,1.19) in 5 patients. Seven patients needed ECMO support. Seven patients survived to discharge. Conclusion., Late presenters with d-TGA/IVS, who have LV collapse on echocardiography and/or a LV/SP ratio <0.67 on cardiac catheterization, should be subjected to LVT preferably for duration of longer than 14 days in order to avoid potential ECMO use. [source]


An Alternative Technique for the Atrial Switch Operation for Transposition of the Great Arteries in an Unoperated Adult Patient

JOURNAL OF CARDIAC SURGERY, Issue 4 2010
Sachin Talwar M.Ch.
The relevant literature on late natural survivors with this condition is reviewed and the technical aspects of an alternative technique for accomplishing a successful atrial switch in this situation are discussed. (J Card Surg 2010;25:406-409) [source]


Atrial Morphology in Hearts with Congenitally Corrected Transposition of the Great Arteries: Implications for the Interventionist

JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, Issue 2 2002
RAJNISH JUNEJA M.D.
Atrial Morphology in Congenitally Corrected Transposition.Introduction: In view of the possible need for septal puncture to ablate left-sided lesions and the occasional difficulty in coronary sinus (CS) cannulation, we investigated relevant anatomic features in the right atrium of hearts with congenitally corrected transposition of the great arteries (ccTGA). Methods and Results: Nine hearts with ccTGA and an intact atrial septum and eight weight-matched normal hearts were examined by studying the "septal" aspect of the right atrium with reference to the oval fossa (OF). The anterior margin was arbitrarily measured as the shortest distance from the OF to the superior mitral/tricuspid annulus. The posterior margin was measured from the OF to the posterior-most edge of the right atrial "septal" surface. The total "septal" surface width was measured at the middle of the OF. The stretched OF dimensions and CS isthmus length were noted. Mann-Whitney test was used to compare absolute and indexed dimensions, i.e.. normalized to total width. The posterior margin in hearts with ccTGA was shorter than in controls (6.3 ± 2.4 mm vs 11 ± 1.9 mm, P < 0.001; normalized margin P = 0.09). The CS isthmus also was significantly shorter (5.3 ± 2.7 mm vs 11.4 ± 2.2 mm, P < 0.001). In two hearts with ccTGA, the CS opening into the right atrium was on the same side of the eustachian valve as the inferior caval vein. Conclusion: The shorter posterior "septal" margin in hearts with ccTGA may increase the risk of exiting the heart while performing septal puncture when pointing the needle posteriorly. The shorter CS isthmus and the abnormal location of the CS opening in some of these hearts are important when contemplating radiofrequency ablation in this area. [source]


Use of Radiofrequency Perforation for Lead Placement in Biventricular or Conventional Endocardial Pacing after Mustard or Senning Operations for D-Transposition of the Great Arteries

PACING AND CLINICAL ELECTROPHYSIOLOGY, Issue 9 2009
SANTABHANU CHAKRABARTI M.D.
Background: Endocardial pacemaker lead placement can be challenging after Mustard and Senning operations for transposition of the great arteries (D-TGA), if there is atresia of the systemic venous pathways and because the coronary sinus cannot be used for cardiac resynchronization therapy. Radiofrequency (RF)-assisted perforation techniques have been used in congenital heart disease but have not been reported for use in pacemaker implantation. Methods and Results: We describe RF perforation of an atretic superior systemic venous pathway and systemic venous baffles in three patients after Senning and Mustard operations to implant endocardial pacing systems to achieve conventional or biventricular pacing. Conclusions: RF-energy-assisted perforation is feasible and effective tool to facilitate endocardial lead placement during dual-chamber and biventricular pacemaker implantation in patients with Mustard or Senning operations for D-TGA. [source]


Radiofrequency Ablation of a Posteroseptal Atrioventricular Accessory Pathway in a Left-Sided Tricuspid Ring with Ebsteinlike Anomaly in a Patient with Congenitally Corrected Transposition of the Great Arteries

PACING AND CLINICAL ELECTROPHYSIOLOGY, Issue 1 2000
JOSEF BRUGADA
Radiofrequency ablation successfully eliminated a posteroseptal accessory pathway in a left-sided tricuspid ring with Ebsteinlike anomaly in a patient with a congenially corrected transposition of the great arteries. [source]


Neurocutaneous Melanosis with Transposition of the Great Arteries and Renal Agenesis

PEDIATRIC DERMATOLOGY, Issue 4 2003
M.D., Nilgün Köksal
A 6-day-old infant boy was referred to our department with giant congenital melanocytic nevi and convulsions. On physical examination the patient had a giant black-brown pigmented nevus covering his face, neck, scalp, shoulders, back, chest, and abdomen. Numerous satellite lesions were noted on the face, neck, and upper extremities. In the right bulbar conjunctiva, a brown plaque was present. Magnetic resonance imaging (MRI) showed hyperintense areas in the brain on short repetition time/short echo time sequences, compatible with intraparenchymal melanin deposits. No leptomeningeal abnormality was seen. Further investigation also revealed agenesis of the right kidney and transposition of the great arteries. Transposition of the great arteries, which has never been reported in NCM, may be an incidental finding. We present a case of NCM associated with agenesis of the right kidney and transposition of the great arteries. [source]


Pulmonary Hypertension in Patients after Repair of Transposition of the Great Arteries

CONGENITAL HEART DISEASE, Issue 2 2010
Ellen Chan MD
ABSTRACT One well-documented complication of unrepaired d-transposition of the great arteries (d-TGA) is progressive pulmonary vascular disease. It is generally accepted that pulmonary vascular disease will not develop if d-TGA repair is performed early in life. Herein, we report a number of repaired d-TGA, especially in older patients with Mustard/Senning procedures, in whom pulmonary vascular disease developed years after their original repair. The etiology of this phenomenon is unknown, warranting further investigation. Our case reports highlight an overlooked, possible long-term complication following d-TGA repair. From this experience, we recommend that evidence of progressive pulmonary vascular disease may need to be regularly sought during the follow-up of patients after d-TGA repair, especially Mustard/Senning repairs, as early treatment of pulmonary hypertension may improve long-term clinical outcomes. [source]


Late Presenters with Dextro-transposition of Great Arteries and Intact Ventricular Septum: To Train or Not to Train the Left Ventricle for Arterial Switch Operation?

CONGENITAL HEART DISEASE, Issue 6 2009
Noor Mohamed Parker MBChB
ABSTRACT Objective., We report our experience in managing late presenters (older than 4 weeks) with dextro-transposition of great arteries and intact ventricular septum (d-TGA/IVS) in an effort to achieve successful arterial switch operation (ASO) in a third world setting. Design., We retrospectively reviewed the charts of all late presenters with d-TGA/IVS. Patients were divided into two groups: left ventricular training (LVT) group and non-left ventricular training (non-LVT) group. LVT group underwent pulmonary artery banding and Blalock-Taussig Shunt prior to ASO. Results., Twenty-one late presenters were included in the study. In LVT group, 11 patients with median age of 6 months (range, 1,72 months) underwent LVT. Later, 8 patients with median age of 9.25 months (range, 1.33,84 months) underwent ASO. Prior to ASO, left ventricle (LV) collapse resolved in all and left ventricle to systemic pressure (LV/SP) ratio was 0.81 (range, 0.76,0.95) in 4 patients. Two patients who had LVT for ,14 days required postoperative extracorporeal membrane oxygenation (ECMO) support due to LV dysfunction. Seven patients survived to discharge. In non-LVT group, 10 patients with median age of 2.5 months (range, 1,98 months) underwent ASO. Five patients had LV collapse, and median LV/SP ratio was 0.67 (range, 0.56,1.19) in 5 patients. Seven patients needed ECMO support. Seven patients survived to discharge. Conclusion., Late presenters with d-TGA/IVS, who have LV collapse on echocardiography and/or a LV/SP ratio <0.67 on cardiac catheterization, should be subjected to LVT preferably for duration of longer than 14 days in order to avoid potential ECMO use. [source]


Development of lymphatic vessels in mouse embryonic and early postnatal hearts

DEVELOPMENTAL DYNAMICS, Issue 10 2008
Juszy, Micha
Abstract We aimed to study the spatiotemporal pattern of lymphatic system formation in the embryonic and early postnatal mouse hearts. The first sign of the development of lymphatics are Lyve-1,positive cells located on the subepicardial area. Strands of Lyve-1,positive cells occur first along the atrioventricular sulcus of the diaphragmatic surface and then along the great arteries. Lumenized tubules appear, arranged in rows or in a lattice. They are more conspicuous in dorsal atrioventricular junction, along the major venous and coronary artery branches and at the base of the aorta and the pulmonary trunk extending toward the heart apex. At later stages, some segments of the lymphatic vessels are partially surrounded by smooth muscle cells. Possible mechanisms of lymphangiogenesis are: addition of Lyve-1,positive cells to the existing tubules, elongation of the lymphatic lattice, sprouting and coalescence of tubules. We discuss the existence of various subpopulations of endothelial cells among the Lyve-1,positive cells. Developmental Dynamics 237:2973,2986, 2008. © 2008 Wiley-Liss, Inc. [source]


Safety and Efficacy of Arterial Switch Operation in Previously Inoperable Patients

JOURNAL OF CARDIAC SURGERY, Issue 4 2010
Liu Ying-long M.D.
This study aimed to evaluate the safety and efficacy of ASO in these selected subset patients. Methods: The records of 86 patients older than six months with complete transposition of the great arteries and ventricular septal defect or Taussig-Bing anomaly and severe PAH who underwent ASO at our institution from May 2000 to October 2008 were reviewed retrospectively. Eighty survivors were followed-up. Results: There were six hospital deaths (7.0%, 95% confidence limit 1.6 to 12.4%). From January 2006 to October 2008, 46 consecutive ASOs were performed with no death. Operative mortality and mobility decreased significantly (p = 0.008 and p = 0.046, respectively). The median duration of follow-up was 42.1 ± 28.8 months (range, 2.0 to 99.5). Two late deaths occurred. Latest follow-up data showed that 2.8% of survivors were in New York Heart Association (NYHA) class II and 97.2% were in NYHA class I. Conclusions: Excellent early and mid-term results of ASO are obtained from patients older than six months with complete transposition of the great arteries and ventricular septal defect or Taussig-Bing anomaly and severe PAH in current era, and ASO is safe and effective in these selected subset patients. (J Card Surg 2010;25:400-405) [source]


A Technique of Snaring Method for Fitting a Prosthetic Valve into the Annulus

JOURNAL OF CARDIAC SURGERY, Issue 1 2005
Shigeo Nagasaka M.D.
We modified the previously reported method and designed a simpler tying technique. Patients: We performed 11 aortic (AVR: including four cases for calcified aortic stenosis (AS) with a small annulus and one cases for infective endocarditis with intramuscular abscess cavity), eight mitral valve replacements (MVR), and one tricuspid valve replacement (TVR: for corrected transposition of the great arteries). Techniques and Results: A PV was implanted using 2-0 polyester mattress sutures with a pledget. Each of the two tourniquets held a suture at the bottom of the annulus and at the opposite position to fit a PV. The sutures between each snare were tied down from the bottom to the top. In MVR, after seating of a PV with two tourniquets, we could make sure that no native tissue of any preserved mitral apparatus disturbed PV leaflet motion. In calcific AS, a PV had a good fitting into the annulus because of tourniquets applied to unseated part during tying sutures. In AVR for infective endocarditis, mattress sutures supported by a Teflon pledget were placed to close the abscess cavity. After snaring on one of these sutures, we tied down the sutures, ensuring that they did not cut through the friable tissues. In TVR, we found that native leaflets interfered with PV motion after seating down the prosthesis and those leaflets were resected before tying down the sutures. Postoperative transesophageal echocardiography showed no paravalvular leakage in any patients and excellent PV functions. [source]


The Early History of Cardiac Surgery in Stockholm

JOURNAL OF CARDIAC SURGERY, Issue 6 2003
Kjell Radegran M.D.
The portal figure is Clarence Crafoord (1899,1983) who already in 1927 had succeeded with the Trendelenburg pulmonary embolectomy operation. He went on to develop lung surgery in general. With foresight he stimulated the chemists of Karolinska Institute to purify heparin, first for prophylaxis against venous thromboembolism and later for use with the heart-lung machine. In 1944 he became the first surgeon to successfully operate on patients with coarctation of the aorta. With Viking Olov Bjork and Ake Senning the heart-lung machine was improved, finally allowing its clinical use in a patient operated in 1954 for a myxoma of the left atrium, with long-term survival. This was the first successful use of the heart-lung machine in Sweden and the second in the world. He and his coworkers, first at the Sabbatsberg hospital and from 1957 at the Karolinska hospital made major contributions to cardiology and radiology, apart from the progresses in cardiac surgery. Contributions such as pressure recording from the left atrium by needle puncture in 1950, the Senning operation for transposition of the great arteries and the first use of a totally implantable cardiac pacemaker in 1958 are indeed medical history. (J Card Surg 2003;18:564-572) [source]


Atrial Morphology in Hearts with Congenitally Corrected Transposition of the Great Arteries: Implications for the Interventionist

JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, Issue 2 2002
RAJNISH JUNEJA M.D.
Atrial Morphology in Congenitally Corrected Transposition.Introduction: In view of the possible need for septal puncture to ablate left-sided lesions and the occasional difficulty in coronary sinus (CS) cannulation, we investigated relevant anatomic features in the right atrium of hearts with congenitally corrected transposition of the great arteries (ccTGA). Methods and Results: Nine hearts with ccTGA and an intact atrial septum and eight weight-matched normal hearts were examined by studying the "septal" aspect of the right atrium with reference to the oval fossa (OF). The anterior margin was arbitrarily measured as the shortest distance from the OF to the superior mitral/tricuspid annulus. The posterior margin was measured from the OF to the posterior-most edge of the right atrial "septal" surface. The total "septal" surface width was measured at the middle of the OF. The stretched OF dimensions and CS isthmus length were noted. Mann-Whitney test was used to compare absolute and indexed dimensions, i.e.. normalized to total width. The posterior margin in hearts with ccTGA was shorter than in controls (6.3 ± 2.4 mm vs 11 ± 1.9 mm, P < 0.001; normalized margin P = 0.09). The CS isthmus also was significantly shorter (5.3 ± 2.7 mm vs 11.4 ± 2.2 mm, P < 0.001). In two hearts with ccTGA, the CS opening into the right atrium was on the same side of the eustachian valve as the inferior caval vein. Conclusion: The shorter posterior "septal" margin in hearts with ccTGA may increase the risk of exiting the heart while performing septal puncture when pointing the needle posteriorly. The shorter CS isthmus and the abnormal location of the CS opening in some of these hearts are important when contemplating radiofrequency ablation in this area. [source]


Four-dimensional sonography with B-flow imaging and spatiotemporal image correlation for visualization of the fetal heart

JOURNAL OF CLINICAL ULTRASOUND, Issue 4 2008
Toshiyuki Hata MD
Abstract Purpose. To use B-flow imaging with 4-dimensional (4D) sonography and spatiotemporal image correlation (STIC) in the evaluation of normal fetal heart and congenital heart disease during pregnancy. Method. Volume data sets of the fetal heart were acquired with automated transverse and longitudinal sweeps of the anterior chest wall. We studied 13 normal fetuses and 2 fetuses with congenital heart disease (1 double-outlet right ventricle and 1 hypoplastic left heart syndrome) at gestation ages ranging from 13 to 39 weeks using transabdominal 4D B-flow sonography with STIC (4D BF-STIC). Results. 4D BF-STIC demonstrated dynamic angiographic features in both normal and abnormal fetal hearts. 4D BF-STIC images could not be obtained in 2 normal fetuses at 18.1 and 33.1 weeks because of the high fetal heart rate and inappropriate fetal position. In normal fetal heart, characteristic hemodynamic changes in both atria and ventricles were clearly demonstrated in systole and diastole. 4D BF-STIC also allowed visualization of the relationship, size, and course of the outflow tracts, thus helping the examiner to better understand the relationships between the vessels. In a case of hypoplastic left heart syndrome, dramatic hemodynamic changes including the right atrium, right ventricle, and pulmonary artery were evident. In a case of double-outlet right ventricle with ventricular septal defect, left-to-right shunt flow through a ventricular septal defect was clearly shown, as were great arteries originating in parallel from the right ventricle. Conclusion. 4D BF-STIC provides a means of real-time 3-dimensional evaluation of fetal intracardiac and extracardiac hemodynamics in the second and third trimesters. This novel technique assists in the evaluation of fetal cardiac hemodynamics and may play an important role in future fetal cardiac research and in the evaluation of congenital heart disease in the fetus. © 2008 Wiley Periodicals, Inc. J Clin Ultrasound, 2008. [source]


Neurodevelopmental outcomes and surgery in neonates

JOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 12 2006
Karen Walker
Abstract: A neonate requiring major surgery in 2006 has a greater prospect of survival than ever before. Increasingly, however, there is awareness that critical illness may affect later neurodevelopment. Pre-existing conditions in addition to the physiologic stresses associated with cardiac and general surgery are implicated but remain unavoidable in the case of significant structural abnormalities such as transposition of the great arteries or congenital diaphragmatic hernia. For those affected by neurodevelopmental impairment, there is a significant cost to the child, family and society. Current research focuses on the preventable causes of brain injury, before, during and after the intervention, and the rate of impairment in apparently uncomplicated procedures. In contrast to the quantity of neurodevelopmental outcome data following cardiac surgery, there remain few outcome studies dealing with non-cardiac surgery despite such intervention being two to three times more common. There appear to be compelling clinical and economic arguments for the instigation of formalised population-based developmental assessments for all infants undergoing major surgery. [source]


Structural and Functional Effects of Developmental Exposure to Ethanol on the Zebrafish Heart

ALCOHOLISM, Issue 6 2010
Cynthia A. Dlugos
Background:, Fetal alcohol exposure during development results in a host of cardiac abnormalities including atrial and ventricular septal defects, teratology of Fallot, d-transposition of the great arteries, truncus arteriosus communis, and aortico-pulmonary window. The mechanisms behind these ethanol-induced deficits are unknown. The purpose of this study was to determine whether the zebrafish, a simple model in which heart development and the sequence of gene expression is well elucidated and comparable to that in higher vertebrates, is sensitive to developmental exposure of pharmacologically relevant concentrations of ethanol. Methods:, Zebrafish eggs of the AB strain were raised in egg water or in 0.5% (v/v) ethanol solution for either 54 hpf (hours postfertilization) or 72 hpf. Heart pathology and volumes were evaluated on the latter group at 5 dpf (days postfertilization) on tissue sections from fixed larvae embedded in glycolmethacrylate. Heart rates were determined in embryos of 54 hpf and larvae of 5 dpf. The functional maturity of the heart's conducting system was measured by determining the response of ethanol-treated and control embryos and larvae to the adrenergic agonist, isoproterenol, and the cholinergic agonist, carbachol. Results:, Ethanol-induced alterations occurred in heart morphology and heart volume. A developmental lag in the isoproterenol response and the absence of carbachol-mediated bradycardia were also observed following ethanol treatment. Conclusions:, These results show that exposure of the zebrafish to ethanol during development results in structural and functional changes in the heart that mimic malformations that occur in patients with fetal alcohol syndrome (FAS). These findings promote the zebrafish heart as a future model for investigating the mechanisms responsible for ethanol's adverse effects on vertebrate heart development. [source]


Use of Radiofrequency Perforation for Lead Placement in Biventricular or Conventional Endocardial Pacing after Mustard or Senning Operations for D-Transposition of the Great Arteries

PACING AND CLINICAL ELECTROPHYSIOLOGY, Issue 9 2009
SANTABHANU CHAKRABARTI M.D.
Background: Endocardial pacemaker lead placement can be challenging after Mustard and Senning operations for transposition of the great arteries (D-TGA), if there is atresia of the systemic venous pathways and because the coronary sinus cannot be used for cardiac resynchronization therapy. Radiofrequency (RF)-assisted perforation techniques have been used in congenital heart disease but have not been reported for use in pacemaker implantation. Methods and Results: We describe RF perforation of an atretic superior systemic venous pathway and systemic venous baffles in three patients after Senning and Mustard operations to implant endocardial pacing systems to achieve conventional or biventricular pacing. Conclusions: RF-energy-assisted perforation is feasible and effective tool to facilitate endocardial lead placement during dual-chamber and biventricular pacemaker implantation in patients with Mustard or Senning operations for D-TGA. [source]


Use of Intracardiac Echocardiography in Guiding Radiofrequency Catheter Ablation of Atrial Tachycardia in a Patient After the Senning Operation

PACING AND CLINICAL ELECTROPHYSIOLOGY, Issue 11 2003
ANITA KEDIA
A patient with D-transposition of the great arteries developed drug refractory atrial tachycardia 12 years after a Senning operation. Electrophysiological study confirmed the presence of atrial baffle-tricuspid valve isthmus dependent reentrant intraatrial tachycardia. Intracardiac echocardiography facilitated initial identification of structures, catheter positioning, and identification of the atrial baffle-tricuspid valve isthmus. (PACE 2003; 26:2178,2180) [source]


Radiofrequency Ablation of a Posteroseptal Atrioventricular Accessory Pathway in a Left-Sided Tricuspid Ring with Ebsteinlike Anomaly in a Patient with Congenitally Corrected Transposition of the Great Arteries

PACING AND CLINICAL ELECTROPHYSIOLOGY, Issue 1 2000
JOSEF BRUGADA
Radiofrequency ablation successfully eliminated a posteroseptal accessory pathway in a left-sided tricuspid ring with Ebsteinlike anomaly in a patient with a congenially corrected transposition of the great arteries. [source]


Neurocutaneous Melanosis with Transposition of the Great Arteries and Renal Agenesis

PEDIATRIC DERMATOLOGY, Issue 4 2003
M.D., Nilgün Köksal
A 6-day-old infant boy was referred to our department with giant congenital melanocytic nevi and convulsions. On physical examination the patient had a giant black-brown pigmented nevus covering his face, neck, scalp, shoulders, back, chest, and abdomen. Numerous satellite lesions were noted on the face, neck, and upper extremities. In the right bulbar conjunctiva, a brown plaque was present. Magnetic resonance imaging (MRI) showed hyperintense areas in the brain on short repetition time/short echo time sequences, compatible with intraparenchymal melanin deposits. No leptomeningeal abnormality was seen. Further investigation also revealed agenesis of the right kidney and transposition of the great arteries. Transposition of the great arteries, which has never been reported in NCM, may be an incidental finding. We present a case of NCM associated with agenesis of the right kidney and transposition of the great arteries. [source]


Epidemiology of holoprosencephaly: Prevalence and risk factors,

AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 1 2010
Iêda M. Orioli
Abstract The wide variation in cerebral and facial phenotypes and the recognized etiologic heterogeneity of holoprosencephaly (HPE) contribute to the observed inter-study heterogeneity. High lethality during the early stages of embryonic and fetal development makes HPE detection age dependent. By reviewing 21 HPE epidemiologic articles, the observed prevalence rate differences can be largely explained by the pregnancy outcome status of the studied cohort: livebirth, stillbirth, and terminations of pregnancy (TOPs): lower than 1 per 10,000 when live and still births were included, higher when TOPs were included, and between 40 and 50 per 10,000 in two classical Japanese studies on aborted embryos. The increasing secular trend observed in some studies probably resulted from an increasing use of prenatal sonography. Ethnic variations in birth prevalence rates (BPRs) could occur in HPE, but the available data are not very convincing. Higher BPRs were generally observed in the less favored minorities (Blacks, Hispanics, Pakistanis), suggesting a bias caused by a lower prenatal detection rate of HPE, and consequently less TOPs. Severe ear defects, as well as microstomia, were part of the spectrum of HPE. Non-craniofacial anomalies, more frequently associated with HPE than expected, were genital anomalies (24%), postaxial polydactyly (8%), vertebral defects (5%), limb reduction defects (4%), and transposition of great arteries (4%). The variable female predominance, found in different HPE studies, could also depend on the proportion of early conceptions in each study sample, as males are more likely to be lost through spontaneous abortions. © 2010 Wiley-Liss, Inc. [source]


Fetal Anatomy of the Human Carotid Sheath and Structures In and Around It

THE ANATOMICAL RECORD : ADVANCES IN INTEGRATIVE ANATOMY AND EVOLUTIONARY BIOLOGY, Issue 3 2010
Naritomo Miyake
Abstract The aim of this study was to find basic rules governing the morphological development of the typical neurovascular sheath. We carried out histological examination of 15 paraffin-embedded mid-term fetuses at 9,25 weeks of gestation (three fetuses each at 9, 12, 15, 20, and 25 weeks). As the result, the vagus nerve showed a high propensity to change its topographical relationship with the common carotid artery (CCA) during 9,20 weeks of gestation: that is, from a primitive ventral course to a final dorsal course. The adventitia of the great arteries, which was distinct from other fascial structures, became evident by 15 weeks. The carotid sheath appeared at and after 20 weeks: it was clearly separated from the prevertebral lamina of the deep cervical fasciae, but fused with the pretracheal lamina covering the strap muscles. Thus the carotid sheath, as well as the topographical relationships of structures within it, seems to become established much later than the prevertebral and pretracheal laminae of the deep cervical fasciae. However, the adventitia of the cervical great arteries consistently becomes evident much earlier than the sheath, and it seems to be regarded as one of the basic components of the fetal deep cervical fasciae. Anat Rec, 293:438,445, 2010. © 2010 Wiley-Liss, Inc. [source]


Birth at hospitals with co-located paediatric units for infants with correctable birth defects

AUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 3 2008
Charles S. ALGERT
Objectives: To determine the percentage of liveborn infants with selected antenatally identifiable and correctable birth defects who were delivered at hospitals with co-located paediatric surgical units (co-located hospitals). Additionally, to determine the survival rates for these infants. Patients and methods: Data were from linked New South Wales hospital discharge records from 2001 to 2004. Livebirths with one of the selected defects were included if they underwent an appropriate surgical repair, or died during the first year of life. Infants with multiple lethal birth defects were excluded. Deliveries at co-located hospitals were identified, but no data on antenatal diagnosis were available. Results: The study identified 287 eligible livebirths with the selected defects. The highest rates of delivery at co-located hospitals were for gastroschisis (88%), exomphalos (71%), spina bifida (63%) and diaphragmatic hernia (61%), and the lowest for transposition of the great arteries (43%) and oesophageal atresia (40%). Mothers resident outside of metropolitan areas, where the co-located hospitals are located, had a similar rate of delivery at co-located hospitals as metropolitan women. For the non-metropolitan mothers of infants with a birth defect, this represented a 30-fold increase over the baseline delivery rate of 1.8%. Post-surgery survival rates were 87% or higher. Overall survival rates were , 86% except for infants with a diaphragmatic hernia. Conclusions: Delivery rates at co-located hospitals were high for mothers of infants with these correctable birth defects. Regionalised health care appears to work well for these pregnancies, as women living outside metropolitan areas had a similar rate of delivery at co-located hospitals to that of urban women. [source]


Periconceptional nutrient intakes and risks of conotruncal heart defects,

BIRTH DEFECTS RESEARCH, Issue 3 2010
Gary M. Shaw
Abstract BACKGROUND Few inquiries into periconceptional nutrition, other than folate, and risk of heart defects exist. We investigated the observed association between conotruncal heart defects and periconceptional vitamin use, as well as potential associations with other dietary nutrients. METHODS Data derived from a population-based, case-control study of fetuses and liveborn infants among California births between July 1999 and June 2004; 76% of eligible case mothers and 77% of eligible control mothers were interviewed. Cases included 140 with d-transposition of great arteries (dTGA), and 163 with tetralogy of Fallot (TOF). Total number of controls was 698. Use of vitamins was elicited by questionnaire for the periconceptional period. Dietary nutrient intake was elicited by a well-known food frequency questionnaire. RESULTS The odds ratio for dTGA associated with supplemental vitamin use was 1.0 (95% confidence interval [CI], 0.7,1.5) and for TOF was 0.9 (95% CI, 0.6,1.3). We observed increased risks associated with lower dietary intakes of linoleic acid, total carbohydrate, and fructose for dTGA, whereas decreased risks were observed for lower intakes of total protein and methionine for TOF. Lower dietary intake of several micronutrients,namely folate, niacin, riboflavin, and vitamins B12, A, and E, even after simultaneous adjustment for other studied nutrients,was associated with increased risk of dTGA but not TOF. These associations were observed among women who did not use vitamin supplements periconceptionally. Analytic consideration of several potential confounders did not reveal alternative interpretations of the results. CONCLUSION Evidence continues to accumulate to show that nutrients, particularly folate, influence risks of structural birth defects. Our results extend observations that other nutrients may also be important in heart development. Birth Defects Research (Part A), 2010. © 2010 Wiley-Liss, Inc. [source]


Angioarchitecture of the venous and capillary system in heart defects induced by retinoic acid in mice,

BIRTH DEFECTS RESEARCH, Issue 7 2009
Anna Ratajska
Abstract BACKGROUND: Corrosion casting and immunohistochemical staining with anti-alpha smooth muscle actin and anti-CD34 was utilized to demonstrate the capillary plexus and venous system in control and malformed mouse hearts. METHODS: Outflow tract malformations (e.g., double outlet right ventricle, transposition of the great arteries, and common truncus arteriosus) were induced in progeny of pregnant mice by retinoic acid administration at day 8.5 of pregnancy. RESULTS: Although control hearts exhibited areas in which capillaries tended to be oriented in parallel arrays, the orientation of capillaries in the respective areas of malformed hearts was chaotic and disorganized. The major branch of a conal vein in control hearts runs usually from the left side of the conus to its right side at the root of the pulmonary trunk and opens to the right atrium below the right auricle; thus, it has a curved course. On the other hand, a conal vein in malformed hearts courses from the left side or from the anterior side of the conus and tends to traverse straight upwards along the dextroposed aorta or along the aortopulmonary groove with its proximal part located outside of the heart. Other cardiac veins in outflow tract malformations are positioned in the same locations as in control hearts. CONCLUSIONS: We postulate that the changed location of the conal vein and disorganized capillary plexus result from malformed morphogenesis of the outflow tract and/or a disturbed regulation of angiogenic growth factor release from the adjacent environment. Birth Defects Research (Part A), 2009. © 2009 Wiley-Liss, Inc. [source]


Fetal cardiac effects of maternal hyperglycemia during pregnancy

BIRTH DEFECTS RESEARCH, Issue 6 2009
Niamh Corrigan
Maternal diabetes mellitus is associated with increased teratogenesis, which can occur in pregestational type 1 and type 2 diabetes. Cardiac defects and with neural tube defects are the most common malformations observed in fetuses of pregestational diabetic mothers. The exact mechanism by which diabetes exerts its teratogenic effects and induces embryonic malformations is unclear. Whereas the sequelae of maternal pregestational diabetes, such as modulating insulin levels, altered fat levels, and increased reactive oxygen species, may play a role in fetal damage during diabetic pregnancy, hyperglycemia is thought to be the primary teratogen, causing particularly adverse effects on cardiovascular development. Fetal cardiac defects are associated with raised maternal glycosylated hemoglobin levels and are up to five times more likely in infants of mothers with pregestational diabetes compared with those without diabetes. The resulting anomalies are varied and include transposition of the great arteries, mitral and pulmonary atresia, double outlet of the right ventricle, tetralogy of Fallot, and fetal cardiomyopathy. A wide variety of rodent models have been used to study diabetic teratogenesis. Both genetic and chemically induced models of type 1 and 2 diabetes have been used to examine the effects of hyperglycemia on fetal development. Factors such as genetic background as well as confounding variables such as obesity appear to influence the severity of fetal abnormalities in mice. In this review, we will summarize recent data on fetal cardiac effects from human pregestational diabetic mothers, as well as the most relevant findings in rodent models of diabetic cardiac teratogenesis. Birth Defects Research (Part A), 2009. © 2009 Wiley-Liss, Inc. [source]


Periconceptional use of weight loss products including ephedra and the association with birth defects,,§

BIRTH DEFECTS RESEARCH, Issue 8 2008
Rebecca H. Bitsko
Abstract BACKGROUND: Weight loss products are frequently used by reproductive-aged women and these products may be taken (inadvertently or intentionally) during pregnancy. This study assessed the association between periconceptional use of weight loss products and major structural birth defects. METHODS: Mothers of infants with birth defects (case infants) and a random sample of livebirths (control infants) born during the period 1998,2003 in 10 states participated in the National Birth Defects Prevention Study. Adjusted ORs (aORs) for the association between self-reported use of weight loss products and 23 categories of birth defects were calculated. RESULTS: Mothers of control infants (2.4%) and 2.6% of mothers of case infants reported periconceptional use of weight loss products; 1.2% of mothers of control infants and 1.3% of mothers of case infants reported using an ephedra-containing product. Use of any weight loss product was associated with anencephaly (aOR 2.6; 95% CI: 1.3,5.3), dextro-transposition of the great arteries (aOR 2.1; 95% CI: 1.1,4.3), and aortic stenosis (aOR 3.4; 95% CI: 1.5,7.9). Use of products containing ephedra showed an increased aOR with anencephaly (aOR 2.8; 95% CI: 1.0,7.3), while other weight loss products were associated with dextro-transposition of the great arteries (aOR 1.8; 95% CI: 1.2,2.7), and aortic stenosis (aOR 2.1; 95% CI: 1.3,3.5). CONCLUSIONS: These results suggest an association between periconceptional use of weight loss products and certain birth defects but the possible mechanism is not clear. This is the first finding of such an association and, because we examined a large number of exposure-outcome associations in a hypothesis-generating analysis, these results might have been due to chance. Birth Defects Research (Part A) 2008. © 2008 Wiley-Liss, Inc. [source]


Risks of selected congenital malformations among offspring of mixed race-ethnicity

BIRTH DEFECTS RESEARCH, Issue 10 2004
Juan Yang
Abstract BACKGROUND Little is known about the occurrence of specific congenital malformations among offspring of mixed race-ethnicity. METHODS Using data from a population-based registry, we explored the occurrence of selected malformation phenotypes in offspring to parents who were of different race-ethnicity. Data were derived from the California Birth Defects Monitoring Program, a population-based active surveillance system for collecting information on infants and fetuses with congenital malformations using multiple source ascertainment. Approximately 2.6 million live births and stillbirths occurred during 1989,2000. Information on parental race-ethnicity (non-Hispanic white, Hispanic, black, and Asian) was obtained from birth certificates and fetal death files. Malformation phenotypes studied were spina bifida, anencephaly, cleft lip, cleft palate, tetralogy of Fallot, d-transposition of great arteries, hypospadias, small intestinal atresia, preaxial polydactyly, microtia, and hypertrophic pyloric stenosis. RESULTS A total of 11.2% of births were to parents of mixed race-ethnicity. Compared to births of parents who were both white, moderately increased risks (risk ratio , 1.7) of anencephaly, polydactyly, and microtia, and decreased risks (risk ratio , 0.6) of hypospadias and hypertrophic pyloric stenosis were observed among births of several mixed race-ethnicity groups. For anencephaly, polydactyly, and microtia, but not other phenotypes, the risks were different depending on whether maternal versus paternal race-ethnicity was considered. Risks observed between births of a nonwhite parent and a white parent and births of parents who were both nonwhite were similar for most malformation phenotypes. CONCLUSIONS Some malformation phenotypes appear to vary in their risk based on mixed racial-ethnic groupings. Birth Defects Research (Part A), 2004. © 2004 Wiley-Liss, Inc. [source]


The hidden mortality of transposition of the great arteries and survival advantage provided by prenatal diagnosis

BJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 9 2008
M Blyth
Objective, To describe the sensitivity of fetal anomaly scanning at detecting transposition of the great arteries (TGA) and to investigate whether prenatal detection improves survival. Design, Retrospective review of survival by comparing those who had an antenatal diagnosis with those who did not. Setting, Population-based study in Wessex region over 13 years. Population, Babies with isolated TGA and an intact ventricular septum. Methods, Review of outcomes by comparing those who had an antenatal diagnosis with those who did not. Main outcome measures, Mortality rates in each group. Results, TGA occurred more commonly in boys than in girls. Using the existing national screening policy, the antenatal detection rate of TGA was only 6.9% over the study period, improving to 25% in the last 4 years. This contrasts with a 40% detection rate when TGA was associated with a ventricular septal defect (VSD). All the babies who had TGA diagnosed antenatally survived through surgery. Of those who were not diagnosed antenatally, two were stillborn, five died before the diagnosis was made and four died after surgery. Although the difference in survival rates between those who were antenatally diagnosed and those who were not is not statistically significant (,2= 3.9; P = 0.11), some of these deaths could have been prevented if a prenatal diagnosis had been made. Conclusions, Improved antenatal diagnosis could lead to a significant reduction in the mortality associated with TGA. The current low detection rate of TGA in the UK could be improved by the inclusion of outflow tract views in routine fetal anomaly scans, and we believe that the extra workload is justified. [source]