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PubMedDate not supplied

A case of anomalous origin of the pulmonary arteries: right pulmonary artery from the descending aorta and the left pulmonary artery from the ascending aorta.

A 3-month-old girl classified as having persistent truncus arteriosus underwent surgical correction of the anomalous origin of the pulmonary arteries; the right pulmonary artery from the descending aorta and the left pulmonary artery from the ascending aorta. The patient died on the fourth postoperative day. The definite diagnosis and choice of surgical strategies should be further examined.

Abnormalities, Multiple↗
PubMed1986

Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor.

One hundred sixty-one cases of DiGeorge syndrome (111 previously reported in which details concerning individual patients were given and 50 observed) were analyzed for occurrence and type of cardiovascular anomalies. Only 5 patients had a normal heart. Interrupted aortic arch type B was the major anomaly in 48 patients and persistent truncus arteriosus in 37. Therefore, in about half of the patients with DiGeorge syndrome the major anomaly was one that is rare. Conversely, of those patients with interrupted aortic arch, 68% had DiGeorge syndrome, as did 33% of all patients with truncus arteriosus. Although tetralogy of Fallot was also seen often in DiGeorge syndrome (10 patients), these cases represented less than 2% of the total number of cases of tetralogy of Fallot. Similarly, less than 1% of children with isolated ventricular septal defect or transposition of the great arteries had DiGeorge syndrome. The primary cardiovascular anomaly always involved the aortic arch system or the arterial pole of the heart. Recent studies show that neural crest cells play a crucial role in development of pharyngeal (bronchial) pouch derivatives, e.g., thymus and parathyroid glands, as well as the aortic arches and the truncoconal part of the heart. These studies and present observations support the view that DiGeorge syndrome and the associated cardiovascular anomalies are due to an abnormal developmental process involving the neural crest. Curiously, no instances of aortopulmonary septal defect or anomalous origin of a pulmonary artery from the ascending aorta (hemitruncus) have been associated with DiGeorge syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed2005

Roles of forkhead transcription factor Foxc2 (MFH-1) and endothelin receptor A in cardiovascular morphogenesis.

OBJECTIVE: Foxc2/MFH-1 is a member of the forkhead family of transcription factors and Foxc2-deficient mice exhibit aortic arch anomalies (type B interruption of the aortic arch). Endothelin receptor type-A (ETA) is one of the two known endothelin receptors that belong to the G-protein-coupled receptor family. ETA-deficient mice show defects in the great arteries, primarily type B interruption of the aortic arch. Based on similar phenotypes in the cardiovascular system of Foxc2- and ETA-deficient mice, we investigated whether Foxc2 and ETA have a close relationship in aortic arch patterning. METHODS: The Foxc2 and ETA homozygotes were obtained by crossing the Foxc2 and ETA heterozygotes, respectively. The double Foxc2/ETA homozygotes were obtained by crossing the double Foxc2/ETA heterozygotes. RESULTS: We investigated the expression of ETA in Foxc2-null mice and the expression of Foxc2 in ETA-null mice and found that the absence of either Foxc2 or ETA had no effect on the expression of the other. Next, we analyzed mice lacking both Foxc2 and ETA to examine the relationship between Foxc2 and ETA on aortic arch patterning in vivo. We found that the majority of Foxc2/ETA double-mutant embryos died around 11.5 dpc and that all surviving mice had persistent truncus arteriosus. CONCLUSIONS: The results suggest that Foxc2- and ETA-expressing cells additively form the aorticopulmonary septum.

Animals↗
PubMed2006

Cardiac arterial pole alignment is sensitive to FGF8 signaling in the pharynx.

Morphogenesis of the cardiac arterial pole is dependent on addition of myocardium and smooth muscle from the secondary heart field and septation by cardiac neural crest cells. Cardiac neural crest ablation results in persistent truncus arteriosus and failure of addition of myocardium from the secondary heart field leading to malalignment of the arterial pole with the ventricles. Previously, we have shown that elevated FGF signaling after neural crest ablation causes depressed Ca2+ transients in the primary heart tube. We hypothesized that neural crest ablation results in elevated FGF8 signaling in the caudal pharynx that disrupts secondary heart field development. In this study, we show that FGF8 signaling is elevated in the caudal pharynx after cardiac neural crest ablation. In addition, treatment of cardiac neural crest-ablated embryos with FGF8b blocking antibody or an FGF receptor blocker rescues secondary heart field myocardial development in a time- and dose-dependent manner. Interestingly, reduction of FGF8 signaling in normal embryos disrupts myocardial secondary heart field development, resulting in arterial pole malalignment. These results indicate that the secondary heart field myocardium is particularly sensitive to FGF8 signaling for normal conotruncal development, and further, that cardiac neural crest cells modulate FGF8 signaling in the caudal pharynx.

Animals↗
PubMed2002

Normal fate and altered function of the cardiac neural crest cell lineage in retinoic acid receptor mutant embryos.

Mouse embryos lacking the retinoic acid (RA) receptors RARalpha1 and RARbeta suffer from a failure to properly septate (divide) the early outflow tract of the heart into distinct aortic and pulmonary channels, a phenotype termed persistent truncus arteriosus. This phenotype is associated with a failure in the development of the cardiac neural crest cell lineage, which normally forms the aorticopulmonary septum. In this study, we examined the fate of the neural crest lineage in RARalpha1/RARbeta mutant embryos by crossing with the Wnt1-cre and conditional R26R alleles, which together constitute a genetic lineage marker for the neural crest. We find that the number, migration, and terminal fate of the cardiac neural crest is normal in mutant embryos; however, the specific function of these cells in forming the aorticopulmonary septum is impaired. We furthermore show that the neural crest cells themselves do not utilize retinoid receptors and do not respond to RA during this process, but rather that the phenotype is cell non-autonomous for the neural crest cell lineage. This suggests that an alternative tissue in the vicinity of the outflow tract of the heart responds directly to RA, and thereby induces or permits the neural crest cell lineage to initiate aorticopulmonary septation.

Animals↗
PubMed2006

Prenatal diagnosis of conotruncal malformations: diagnostic accuracy, outcome, chromosomal abnormalities, and extracardiac anomalies.

The purpose of this study was to determine whether continuing experience in prenatal diagnosis of conotruncal malformations (CTMs) has resulted in improved diagnostic accuracy and outcome. Previous reports have demonstrated particular difficulty with ascertainment of the spatial relationship of the great arteries in patients with CTM. The prognosis for fetuses with CTM was poor. Medical records of 113 consecutive fetuses in whom a CTM (tetralogy of Fallot [TOF], double-outlet right ventricle [DORV], type B aortic arch interruption, transposition of the great arteries [TGA], and persistent truncus arteriosus [TA]) was diagnosed antenatally between 1994 and 2003 were reviewed. The diagnosis of the 91 fetuses with CTM included TOF (n = 32), TGA (n = 29), DORV (n = 22), and TA (n = 8). The great arterial spatial relationship was diagnosed accurately in 84 of the 91 (92%) live-born infants. In the other seven infants with DORV, the great arterial spatial relationship was identified inaccurately. The overall survival to 30 days was 85 of 91 (93%). Twenty-three of 91 (25%) patients had extracardiac anomalies. Genetic diagnosis (amniocentesis) was obtained in 63 of 94 patients; 11 (17%) had chromosomal abnormalities. Maternal glucose tolerance results were obtained in 65 of the 91 patients and were abnormal in 25 of 65 (38%). Prenatal diagnostic accuracy of conotruncal malformations is excellent; the arterial spatial relationship of DORV remains problematic. The populations of fetuses with CTMs who continue to develop to term have an excellent prognosis.

Blood Glucose↗
PubMed1999

HIRA, a DiGeorge syndrome candidate gene, is required for cardiac outflow tract septation.

DiGeorge syndrome (DGS) is a congenital disease characterized by defects in organs and tissues that depend on contributions by cell populations derived from neural crest for proper development. A number of candidate genes that lie within the q11 region of chromosome 22 commonly deleted in DGS patients have been identified. Orthologues of the DGS candidate gene HIRA are expressed in the neural crest and in neural crest-derived tissues in both chick and mouse embryos. By exposing a portion of the premigratory chick neural crest to phosphorothioate end-protected antisense oligonucleotides, ex ovo, followed by orthotopic backtransplantation to the untreated embryos, we have shown that the functional attenuation of cHIRA in the chick cardiac neural crest results in a significantly increased incidence of persistent truncus arteriosus, a phenotypic change characteristic of DGS, but does not affect the repatterning aortic arch arteries, the ventricular function, or the alignment of the outflow tract.

Animals↗
PubMed1996

RXR alpha deficiency confers genetic susceptibility for aortic sac, conotruncal, atrioventricular cushion, and ventricular muscle defects in mice.

Retinoid-dependent pathways play a central role in regulating cardiac morphogenesis. Recently, we characterized gene-targeted RXR alpha -/- embryos, which display an atrial-like ventricular phenotype with the development of heart failure and lethality at embryonic day 14.5. To quantitate the frequency and complexity of cardiac morphogenic defects, we now use microdissection and scanning electron microscopy to examine 107 wild-type, heterozygous, and homozygous embryos at embryonic day 13.5, 14.5, and 15.5. RXR alpha -/- embryos display complex defects, including ventricular septal, atrioventricular cushion, and conotruncal ridge defects, with double outlet right ventricle, aorticopulmonary window, and persistent truncus arteriosus. In addition, heterozygous RXR alpha embryos display a predisposition for trabecular and papillary muscle defects, ventricular septal defects, conotruncal ridge defects, atrioventricular cushion defects, and pulmonic stenosis. Lastly, we show that the intermediate anatomic phenotype displayed by heterozygous embryos is mirrored in the molecular marker MLC-2a. The intermediate phenotype of RXR alpha heterozygous embryos documents a gene dosage effect for RXR alpha in maintaining normal cardiac morphogenesis. In addition, some defects in RXR alpha mutant mice are phenocopies of human congenital heart defects, thereby suggesting that a relative deficiency in RXR alpha or molecules downstream in its signaling pathway may represent congenital heart disease-susceptibility genes.

Animals↗
PubMed1979

[Valve-fitted prosthetic tubes in the pulmonary outflow tract. Results of a series of 45 operations].

The malformations requiring valve fitted prosthetic tubes in the pulmonary outflow tract were mainly persistent truncus arteriosus and pulmonary atresia with ventricular septal defect in this series. The surgical mortality before 18 months was 75% and 19% after this age. The long-term clinical result (average follow up period: 2,5 years) was good or acceptable in 20 of the 32 survivors. There were 5 late deaths and 6 reoperations. The main causes of long-term failures were progressive pulmonary hypertension without shunt, acquired stenoses on the prosthesis and late infection. It is important to assess poor results by catheterisation as reoperation is frequently possible with a relatively low mortality rate (1/6) and encouraging results.

Adolescent↗
PubMedDate not supplied

Facial dysmorphologic and skeletal cephalometric findings associated with conotruncal cardiac anomalies. off.

Anomalous conotruncal cardiac morphology and facial dysmorphology have been associated with neural crest-pharyngeal arch abnormalities. To assess these associations, 20 patients 3 to 18 years old with tetralogy of Fallot (TOF) or persistent truncus arteriosus (PTA) were evaluated by cardiologic, facial dysmorphic, and cephalometric criteria. The average number of facial abnormalities of neural crest derivation was two, while pharyngeal arch derivative abnormalities were observed with an average of five defects per subject. The total group had many more facial malformations than normal populations (P less than .00001). The occurrence of defects was not significantly different between TOF and PTA patients. Thirteen TOF patients 8 years, 9 months to 18 years, 10 months old (x = 13 years, 4 months) had lateral cephalograms analyzed for skeletal relationships. The TOF patients exhibited higher than usual distribution of dolichofacial growth patterns (6 of 13), Class II skeletal relationships (6 of 13), mandibular retrusion (7 of 13), and maxillary protrusion (6 of 13). Trends were not absolute, since opposite patterns were individually expressed, and referencing by race tended to show more normal values for respective groups.

Adolescent↗
PubMed1990

The site of origin of nonconfluent pulmonary arteries from a common arterial trunk or from the ascending aorta: its morphological significance.

There are three possible embryological derivatives for nonconfluent pulmonary arteries which arise from a common arterial trunk or from the ascending aorta. We considered the feasibility of identifying these derivatives on the basis of the site of origin. We examined 15 specimens, in which both pulmonary arteries arose by separate orifices from a common arterial trunk (persistent truncus arteriosus), and 3 specimens, in which one pulmonary artery arose from the ascending aorta, the other being connected to the morphologically right ventricle (hemitruncus). Measurements were made for both the upper and lower margins of the orifices of the pulmonary arteries and then expressed as a percentage of the length of the ascending common trunk or aorta. The position of origin ranged from 39 to 100% for the upper margin and from 17 to 90% for the lower margin, without significant difference between left and right arteries. Since the range varied so widely, we contend that it is not possible to make a morphological identification of the pulmonary artery under consideration simply on the basis of the location of the site of origin.

Aorta↗
PubMed1984

Echocardiographic features of truncal abnormalities. Special emphasis to the evaluation of pulmonary arteries.

9 patients with persistent truncus arteriosus, 11 patients with pseudotruncus and 2 patients with hemitruncus, ranging in age from 6 months to 29 years, have been studied by M-mode and two-dimensional echocardiography (2-D echo). In all patients the diagnosis was confirmed by cardiac catheterization and angiocardiography; in 10 of them surgical or autopsy documentation was available. Peripheral contrast echocardiography was performed in 13 patients. A variable degree of truncal or aortic override was observed in 7 of 9 patients with truncus arteriosus and in all patients with pseudotruncus by M-mode or two-dimensional echocardiography. By 2-D echo the truncal origin of the right and left pulmonary arteries was visualized in 7 of 9 of the patients with truncus arteriosus. Visualization of one aberrant pulmonary artery from the aortic wall was assessed retrospectively in 2 patients with hemitruncus. A pulmonary atretic valve region was recorded in 10 of 11 of the patients with pseudotruncus. Peripheral contrast echocardiography enabled to distinguish patients with complete obstruction to pulmonary flow from patients with unobstructed right ventricular outflow tract. By showing no direct connection between the pulmonary arteries and the ascending aorta or direct continuity between one or both pulmonary arteries and truncal or aortic root, differentiation of pseudotruncus arteriosus from truncus or hemitruncus may be achieved by 2-D echo.

Adolescent↗
PubMed1983

Surgery for congenital heart defects diagnosed with cross-sectional echocardiography.

Between August 1980 and July 1982, 70 children were operated on for congenital heart defects without the use of cardiac catheterization and/or angiocardiography (7.5% of the total of 929 operations). The diagnosis was established by clinical examination, chest x-ray, electrocardiography, and comprehensive cross-sectional echocardiography. The following lesions were repaired: coarctation of the aorta in infancy (n = 28), total anomalous pulmonary venous drainage (n = 6), aortic valvular/subvalvular lesions (n = 11), mitral and tricuspid valve lesions (n = 4), simple transposition of the great arteries (n = 3), vegetations (n = 3), persistent truncus arteriosus (n = 2), and others (n = 13). Three diagnostic errors occurred, and in four children the initial diagnosis was not complete. No child died as a consequence of an error or incomplete diagnosis, and in only one instance was an inappropriate operation carried out (abdominal coarctation of the aorta). We conclude that operation on selected patients can be safely performed on the basis of noninvasive investigation.

Aortic Coarctation↗
PubMed1993

A single major-gene defect underlying cardiac conotruncal malformations interferes with myocardial growth during embryonic development: studies in the CTD line of keeshond dogs.

The common forms of isolated congenital heart disease are usually not inherited in a Mendelian pattern, and most are considered multifactorial threshold traits. A large subset consisting of a group of malformations of the ventricular outflow region, termed "conotruncal defects" (CTDs), include subarterial ventricular septal defects, tetralogy of Fallot, and persistent truncus arteriosus. Similar aggregations of CTDs have been reported in human families and in the keeshond breed of dog. The results of our early breeding experiments utilizing noninbred keeshonds were not consistent with any hypothesis of a fully penetrant monogenic inheritance. Here we report a recent series of genetic and embryologic studies conducted after more than 10 generations of selective inbred matings between affected-CTD-line dogs. The results are now consistent with a defect at a single autosomal locus, the Mendelian pattern of transmission having been obscured prior to selective inbreeding by genetic background. On the basis of morphometric embryologic studies, the mutant CTD allele causes conotruncal malformations in homozygous animals by interfering with myocardial growth in the conotruncus during the critical window when the conotruncal cushions fuse to form the conotruncal septum.

Animals↗
PubMed1979

Analysis of factors which might improve the survival rate of infants with congenital heart disease.

During 1973--1977, 212 infants underwent open heart operations for congenital heart disease at the Thoracic Unit, The Hospital for Sick Children, Great Ormond Street. The current results (75% survival rate) are compared with the results from earlier years (1963--1967) which showed only a 35% survival rate. Two groups are discussed in detail: Infants with Total Anomalous Pulmonary Venous Drainage, and Persistent Truncus Arteriosus. Although the operative risk in both groups remains high, the analysis of the natural history, palliative and corrective surgery and causes of death suggests that early total repair of severely symptomatic infants achieves the optimal results. The importance of careful analysis is emphasised. Palliative surgery still plays an important role in the treatment of congenital heart defects in infancy. The optimal timing and time of operation can only be selected after careful analysis of various factors.

Heart Defects, Congenital↗
PubMed2002

Truncus arteriosus with coarctation of persistent fifth aortic arch.

Truncus arteriosus is a rare form of congenital heart defect. Among cases, 10% to 20% are associated with arch anomalies, such as interruption, coarctation, or patent ductus arteriosus. We treated a rare case of combined truncus with complex arch anomaly. The patient was a 2-month-old girl weighing 3.8 kg. Echocardiogram and computed tomogram showed interrupted aortic arch, truncus arteriosus, persistent fifth aortic arch, and its coarctation. One-stage total correction was performed under cardiopulmonary bypass without circulatory arrest. The operation consisted of a Rastelli procedure with a 12-mm valved conduit, coarctoplasty, and intraventricular baffling. The patient recovered well without complications.

Aorta, Thoracic↗
PubMedDate not supplied

[Truncus arteriosus communis and interrupted aortic arch].

The association between persistent truncus arteriosus and interrupted aortic arch is a rare but important condition since it has special clinical and therapeutic implications. In this article we present three cases with this malformation. The clinical characteristics are similar to patients with isolated truncus such as heart failure and cyanosis since birth, a protosystolic click, an ejection murmur over the left parasternal line, heart enlargement, increased pulmonary vascular markings and biventricular hypertrophy. The clinical suspicion of interrupted aortic arch is bases on the presence of asymmetric pulses in the upper and lower limbs, but this difference is present only when the arterial duct is restrictive. Because of that, the echocardiographic analysis, mainly, and the angiocardiogram, secondarily, are very important diagnostic tools. We analyze the echocardiographic diagnostic findings, as well as the angiocardiographic anatomy. Also, some important pathophysiological aspects are discussed.

Aorta, Thoracic↗