PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “Truncus Arteriosus, Persistent”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 163 records · Page 9Linked to original sources
PubMed2004

ENU induced mutations causing congenital cardiovascular anomalies.

We used non-invasive high frequency ultrasound to screen N-ethyl-N-nitrosourea mutagenized mouse fetuses for congenital cardiovascular anomalies. We ultrasound scanned 7546 mouse fetuses from 262 mutagenized families, and identified 124 families with cardiovascular defects. Represented were most of the major congenital cardiovascular anomalies seen clinically. The ENU-induced mutations in several families were mapped using polymorphic microsatellite DNA markers. One family with forelimb anomalies and ventricular septal defects, phenotypes similar to Holt-Oram syndrome, and one family with transposition of the great arteries and heart situs anomalies were mapped to different regions of mouse chromosome 4. A third mutation causing persistent truncus arteriosus and craniofacial defects, phenotypes reminiscent of DiGeorge syndrome, was mapped to mouse chromosome 2. We note that mouse chromosomes 4 and 2 do not contain Tbx5 or Tbx1, genes previously linked to Holt-Oram and DiGeorge syndromes, respectively. In two other families, the ENU-induced mutation was identified--Sema3CL605P was associated with persistent truncus arteriosus with interrupted aortic arch, and the Gja1W45X connexin43 mutation caused conotruncal malformation and coronary aneurysms. Although our screen was designed as a recessive screen, a number of the mutations showed cardiovascular phenotypes in both heterozygote and homozygote animals. These studies show the efficacy of ENU mutagenesis and high-throughput ultrasound phenotyping in recovering mutations causing a wide spectrum of congenital heart defects. These ENU-induced mutations hold promise in yielding new insights into the genetic basis for human congenital heart disease.

Amino Acid Sequence↗
PubMed1990

Actin and myosin isoforms in aneural and malformed chick hearts.

Although it is generally accepted that actin and myosin isoforms adapt to their functional requirements, the sequence of expression of these proteins in hearts developing abnormally is unknown. In the chick embryo it is possible to change various aspects of heart development without direct manipulation of the cardiovascular system, by removing various regions of the neural crest from early embryos. The neural crest provides both neural (sympathetic and parasympathetic) and ectomesenchymal components to the heart, and selective removal of various areas results in embryos with sympathetically aneural hearts, or persistent truncus arteriosus with or without parasympathetic denervation. Myosin isoform expression was studied in each of these types of hearts using an array of myosin antibodies specific for atrium, ventricle or the conduction system. Myosin expression in experimental hearts was found to follow the normal pattern of development using these antibodies. Actin expression was studied using cDNA probes for the 3' untranslated region of actin mRNA of the alpha-skeletal, alpha-cardiac and beta-actin isoforms. Using slot-blot hybridization analysis, the pattern of actin expression in atrium and ventricle was followed throughout the period of incubation in normal hearts. The pattern of actin expression was found to be abnormal in hearts which were sympathetically aneural and those which had persistent truncus arteriosus combined with parasympathetic denervation. ATPase activity was increased only in atria of hearts with persistent truncus arteriosus. It appears from these experiments that actin isoform expression is influenced in the chick heart by autonomic innervation.

Actins↗
PubMed1999

[Surgical treatment of truncus arteriosus in children].

OBJECTIVE: To summarize the surgical results of truncus arteriosus in children. METHODS: Five patients with persistent truncus arteriosus underwent complete repair of truncus arteriosus. Type I was found in 2 patients, type II in 2 and type IV in 1 according to Collett and Edwards. Their ages ranged from 3 to 12 years (mean 6.3 years). The time of pulmonary circulation and evacuation of the pulmonary artery was not significantly prolonged. Complete repair was via a median sternotomy utilizing hypothemia with cardiopulmonary bypass, entailing separation of the pulmonary arteries from the truncus, repair of the resultant defect in the aorta, ventricular septal defect (VSD) closure with a patch in which the interrupted pledget-supported suture was placed in the truncal valve annulus of the superior border of VSD, and restoration of right ventricular outflow tract (RVOT) continuity utilizing extra cardiac conduits, of which autologous pericardial valved dacron conduit was used in 4 patients and homograft conduit in 1. RESULTS: Postoperative mean pulmonary pressure decreased significantly in all patients (P < 0.01) and the pressure gradient across conduit was 7 - 35 mm Hg. Two patients died immediately after the operation, which was not associated with pulmonary vascular lesion. Among 3 survivors, I had low cardiac output and respiratory dysfunction after operation and the others recuperated uneventfully. Survivors were followed up for a period of 114, 96 and 34 months respectively, and were all in NYHA functional class I. One died of occlusion of conduit 8 years after operation. CONCLUSIONS: Children with truncus arteriosus are still indicated for complete correction. Autologous pericardial valved dacron conduit has excellent long-term outcomes. Correcting truncal valve insufficiency, repairing VSD, avoiding large pressure gradient across conduit and shortening CPB time are keys to improve the survival rate of patients and achieve excellent long-term outcome.

Bioprosthesis↗
PubMed2003

BMP signaling is required for septation of the outflow tract of the mammalian heart.

Bone morphogenetic proteins (BMPs) constitute a family of approximately 20 growth factors involved in a tremendous variety of embryonic inductive processes. BMPs elicit dose-dependent effects on patterning during gastrulation and gradients of BMP activity are thought to be established through regulation of the relative concentrations of BMP receptors, ligands and antagonists. We tested whether later developmental events also are sensitive to reduced levels of BMP signaling. We engineered a knockout mouse that expresses a BMP type II receptor that lacks half of the ligand-binding domain. This altered receptor is expressed at levels comparable with the wild-type allele, but has reduced signaling capability. Unlike Bmpr2-null mice, mice homozygous for this hypomorphic receptor undergo normal gastrulation, providing genetic evidence of the dose-dependent effects of BMPs during mammalian development. Mutants, however, die at midgestation with cardiovascular and skeletal defects, demonstrating that the development of these tissues requires wild-type levels of BMP signaling. The most striking defects occur in the outflow tract of the heart, with absence of septation of the conotruncus below the valve level and interrupted aortic arch, a phenotype known in humans as persistent truncus arteriosus (type A4). In addition, semilunar valves do not form in mutants, while the atrioventricular valves appear unaffected. Abnormal septation of the heart and valve anomalies are the most frequent forms of congenital cardiac defects in humans; however, most mouse models display broad defects throughout cardiac tissues. The more restricted spectrum of cardiac anomalies in Bmpr2(deltaE2) mutants makes this strain a key murine model to understand the embryonic defects of persistent truncus arteriosus and impaired semilunar valve formation in humans.

Amino Acid Sequence↗
PubMed1991

Relation of early hemodynamic changes to final cardiac phenotype and survival after neural crest ablation in chick embryos.

BACKGROUND: Microcinephotography was used to study a model of persistent truncus arteriosus created in chick embryos by ablation of premigratory neural crest destined for the third and fourth aortic arch arteries as well as the septum of the cardiac outflow tract. METHODS AND RESULTS: Twenty-five control embryos and 105 of 202 experimental embryos were filmed on day 3 of incubation and then reincubated. The remaining 97 experimental embryos were not filmed because of twisting of the embryos, but they were reincubated. There was no difference in either the survival rate (p greater than 0.23) from day 3 to day 11 of incubation or the incidence of persistent truncus arteriosus (p greater than 0.08) between the filmed and the nonfilmed embryos. Incomplete looping of the cardiac tube observed in experimental embryos during early cardiogenesis correlated with a right ventricular origin of the outflow vessels in the definitive heart. Hemodynamic measurements indicated that there was no difference in heart rate, ejection fraction, systolic and diastolic areas, stroke volume, and cardiac output between controls and the experimental group as a whole. However, embryos that did not survive to day 11 had decreased stroke volume (p less than 0.001) and cardiac output (p less than 0.001), whereas embryos that survived to day 11 with cardiac malformations had increased stroke volume and cardiac output in early embryogenesis. CONCLUSIONS: Increased stroke volume and cardiac output may be necessary factors for survival in embryos with cardiac dysmorphogenesis and probably are associated with dilation of the ventricular portion of the cardiac tube, which leads to malalignment of the outflow vessel or vessels.

Animals↗
PubMedDate not supplied

[Single coronary artery originating from the left pulmonary artery of a "truncus arteriosus communis" in a living 39 year-old-patient (author's transl)].

Observation of a single coronary artery with origin from left pulmonary artery in a 39 year-old man who was brought to the operating table for correction of a persistent truncus arteriosus is discussed. The anomaly is expectional and has never been described intra vitam. The authors explain the possible formal genesis on the basis of the most accepted embriogenetic theories and they analyze the special physiopathological behaviour which allowed the long survival and the good physical state of the patient which is still only slightly reduced. In this case a precedent cerebral abscess and frequent hemophtysis indicated the surgical treatment of the truncus arteriosus which was nor performed because of the finding of the coronary anomaly not previously seen with angiography. The authors emphasize the necessity of an accurate pre-operative study of the coronary tree in all patients with persistent truncus arteriosus, to avoid the possibility that anomalies of the origin and course of the coronary arteries can make radical surgical treatment difficult or impossible.

Adult↗
PubMed1982

Multiple congenital heart anomalies in five Arabian foals.

Five Arabian or half-Arabian foals with suspected multiple cardiac anomalies were examined. Various combinations of clinical examination, electrocardiography, angiocardiography, cardiac catheterization, blood gas analysis, radiography, and echocardiography resulted in clinical data that allowed accurate antemortem diagnoses to be made. In 4 cases, the clinical diagnosis was substantiated by postmortem findings. The confirmed diagnoses were: pseudotruncus arteriosus, a combination of patent ductus arteriosus, pulmonic stenosis, and tricuspid stenosis, pentalogy of Fallot, and tricuspid atresia. The surviving horse was believed to have an interventricular septal defect and patent ductus arteriosus, or a persistent truncus arteriosus.

Abnormalities, Multiple↗
PubMed1988

Nodose placode provides ectomesenchyme to the developing chick heart in the absence of cardiac neural crest.

The cardiac neural crest provides both ectomesenchyme and parasympathetic postganglionic neurons to the developing heart. Ablation of cardiac neural crest results in persistent truncus arteriosus, a condition in which the conotruncal and aorticopulmonary septa do not form in the developing heart. Parasympathetic postganglionic neurons are abundantly present in hearts with persistent truncus arteriosus, which indicates a "regeneration" of the neural component of the cardiac neural crest without comparable restitution of the ectomesenchymal component. The neural component has been shown to be provided by cells from the nodose placode following ablation of the cardiac neural crest. This investigation has shown that ectomesenchymal cells are also supplied to a limited extent by the nodose placode which normally has no ectomesenchymal derivatives. Although placode-derived ectomesenchyme helps to strengthen the wall of the cardiac outflow vessel, it is not competent to induce conotruncal and aorticopulmonary septal closure.

Animals↗
PubMed2006

Anaesthetic management for hip arthroplasty in a 46-yr-old patient with uncorrected truncus arteriosus type IV.

In modern adult anaesthetic practice uncorrected complex congenital heart lesions are rare. Persistent truncus arteriosus accounts for only 1.2-3% of all congenital heart malformations. If not corrected, fewer than 20% of these patients survive the first year of life. Here we report the successful management of an adult patient with uncorrected truncus arteriosus who presented for hip arthroplasty.

Anesthesia, General↗
PubMed1987

Prenatal ultrasonic detection of truncus arteriosus with interrupted aortic arch and truncal valve regurgitation.

The echocardiographic appearances in a case of persistent truncus arteriosus with aortic arch interruption and truncal valve dysplasia was noted in a 24 week fetus. Elective termination of pregnancy was carried out and all the echocardiographic findings were confirmed by pathological examination suggesting the possibility of accurate prenatal diagnosis of such lesions.

Adult↗
PubMed1992

[An extracardiac valved graft in the establishment of continuity between the right ventricle and the pulmonary arteries. The technics and the results of their use in correcting common truncus arteriosus].

PURPOSE: To evaluate the results of valved extracardiac conduits for establishment of right ventricle pulmonary artery continuity in patients with truncus arteriosus communis. METHODS: between January 1981-January 1991, 15 patients with persistent truncus arteriosus communis underwent surgical repair with valved extracardiac conduits for establishment of right ventricle-pulmonary artery continuity. Mean age was 2 years 9 months and mean weight 9.6 kg. Eight patients were females and seven males. The diagnosis was established by hemodynamics and/or echocardiographic studies and surgical indication was based in presence of cardiac insufficiency and prevention of pulmonary vascular disease. Valved conduits were performed with insertion of pericardial xenograft in woven dacron prosthesis. Diameters ranged between 12 to 22 mm. RESULTS: The in-hospital mortality was 33% and the low output syndrome was the main cause. Post-operative complications, with variable gravity, occurred in 80% of the patients. Reoperation occurred in four patients during the long term follow-up due to stenotic complications of the valved conduit, mean 5 years 2 months after implant. Late mortality was 30%, with correspondent actuarial life table of 66.6% in 1st year, 53.3%, 3rd and 46.2% in 5 and 10 years. CONCLUSION: Although the valved extracardiac conduits have significantly improved the survival of patients with truncus arteriosus communis, late stenotic complications were high determining continuous development of direct ventricle-arterial anastomosis techniques.

Bioprosthesis↗
PubMed1988

Anomalous origin of a pulmonary artery from the ascending aorta: associated anomalies and pathogenesis.

The pathologic anatomic features and associated cardiovascular anomalies of 9 patients with anomalous origin of 1 pulmonary artery (PA) from the ascending aorta seen at the University of Florida and 99 previously reported cases were analyzed. Anomalous origin of the right PA was much more common than anomalous origin of the left PA. The anomalous right PA usually arose from the posterior aspect of the ascending aorta close to the aortic valve. Less commonly, it originated from the lateral ascending aorta just proximal to the innominate artery. Patent ductus arteriosus and aorticopulmonary septal defect were commonly associated with anomalous origin of the right PA; other cardiovascular anomalies were rare. In contrast, tetralogy of Fallot and aortic arch anomalies, e.g., right aortic arch and anomalous origin of the subclavian artery, were common in anomalous origin of the left PA. An association with DiGeorge syndrome, frequently noted with persistent truncus arteriosus, was not seen with anomalous origin of a PA from the ascending aorta. The observations indicate that anomalous origin of the right PA and anomalous origin of the left PA are pathogenetically unrelated to each other and both are unrelated to persistent truncus arteriosus. Moreover, anomalous origin of the right PA arising close to the innominate artery is thought to be pathogenetically distinct from the type that arises close to the aortic valve. These pathogenetic relations should be considered in epidemiologic studies of congenital heart disease.

Aorta↗
PubMed1989

Neural crest ablation does not alter pulmonary vein development in the chick embryo.

Cranial neural crest, which extends from the mid-diencephalon to somite five, plays an integral role in development of pharyngeal arch derivatives and supplies mesenchyme to the aortic arch arteries. Neural crest cells in pharyngeal arches three, four, and six migrate to the heart and are involved in aorticopulmonary and conotruncal septation. Ablation of the "cardiac" neural crest cells in chick embryos results in a variety of outflow tract anomalies, including persistent truncus arteriosus. Although other studies have shown the importance of the neural crest in the development of the cardiac outflow tract, the role of neural crest in venous development has not been established. This investigation evaluates the effect of cardiac neural crest ablation on the morphological development of the pulmonary vein. The presence of the pulmonary vein was confirmed initially at early stage 15 using histological sections and computer reconstructions of serially sectioned, normal embryos. India ink injections demonstrated a complete, patent pulmonary circuit at stage 18. Cardiac neural crest was ablated at stages 8-10. Operated, sham-operated, and control embryos were sacrificed at incubation day 11, and acrylic plastic casts prepared of the intravascular compartment. In experimental embryos with persistent truncus arteriosus, there were no morphological differences in the pulmonary veins, compared with shams and controls. These data indicate that the lesions of the cardiac neural crest have little morphological impact on pulmonary vein development. It is concluded that alterations in the cardiac neural crest are not involved in venous anomalies such as cor triatriatum and total or partial anomalous pulmonary venous return.

Animals↗
PubMed1990

Microcinephotography of the developing heart in neural crest-ablated chick embryos.

Microcinephotography was used to study heart development in a neural crest model of heart defects, that is, persistent truncus arteriosus, interrupted aortic arch, double outlet right ventricle, or single ventricle and tricuspid valve anomalies. These defects were created in chick embryos by ablation of premigratory neural crest destined for the aorticopulmonary and truncal septa, as well as the third and fourth aortic arch arteries. When embryogenesis reached the looped cardiac tube stage of development (Hamburger-Hamilton stage 18), 19 experimental and 15 control embryos were filmed at 100 frames per second under controlled environmental conditions. Analysis of the microcinephotography films showed the following significant distinguishing characteristics of the developing heart in the experimental embryos: altered conotruncal shape in 100%, depressed contractility and dilation of the primitive ventricle in 84%, decreased emptying of the bulbus cordis in 79%, incompetent truncal cushions in 68%, incomplete looping of the cardiac tube in 58%, and fourth right aortic arch artery without blood flow and third right aortic arch artery with increased flow in 53%. These abnormal characteristics suggested that there were functional and morphological changes in the developing heart of experimental embryos before the time when the predicted structural heart defects would be apparent. It is proposed that the primitive ventricle might attempt to compensate for depressed contractility by ventricular dilation. The incompetent truncal cushions could be secondary to the depressed contractility or secondary to the neural crest ablation that is known to cause persistent truncus arteriosus, an interrupted aortic arch, or both. The absence of blood flow in the right fourth aortic arch artery that will become the definitive aorta correlates with the expected incidence of interrupted aortic arches in this neural crest-ablation model of heart defects. It is speculated that the incomplete looping of the cardiac tube might hinder normal developmental alignment of the outflow and inflow tracts, producing a spectrum of lesions of maldevelopment of the tricuspid valve and dextroposition of the aorta.

Animals↗
PubMed1990

The effects of high phenylalanine concentration on chick embryonic development.

Cells from a particular portion of the cranial neural crest (cardiac neural crest) migrate from the neural fold into pharyngeal arches 3, 4 and 6, where they provide the support for the endothelium of the aortic arch arteries, and by migration into the outflow tract become involved in septation of the truncus arteriosus. Ablation of the premigratory cardiac neural crest results in persistent truncus arteriosus and other defects reminiscent of the DiGeorge syndrome in man. Removal of a small area of the cardiac neural crest causes a spectrum of heart defects classified together as dextraposed aorta including changes like that of Fallot's tetralogy in man. Some inflow tract anomalies have also been found. Pilot studies injecting phenylalanine into developing chick embryos at a very early stage had little effect on embryo viability or on the incidence of congenital heart defects. However, sham-treated animals produced predominantly small simple ventricular septal defects but phenylalanine-treated embryos had more serious and complex heart anomalies. It is not possible to say yet that congenital heart disease in the offspring of mothers with untreated phenylketonuria is due to phenylalanine-induced damage to the neural crest, but the pilot studies in chick suggest that this idea is worth pursuing.

Animals↗
PubMed1991

Di George anomaly associated with a de novo Y;22 translocation resulting in monosomy del(22)(q11.2).

We report on an infant, born to a diabetic mother, who presented with hypocalcemia and congenital heart disease, presurgically diagnosed by echocardiography as truncus arteriosus type I. Cytogenetic analysis showed a 45,X,-Y,-22,+der-(Y)t(Y;22) (p11.3q11.2) chromosome abnormality with del(22)(q11.2). Parental chromosomes were normal. Autopsy showed persistent truncus arteriosus type II and thymic aplasia consistent with DiGeorge anomaly. This report adds to the existing literature demonstrating an association between DiGeorge anomaly and monosomy 22q11.

Chromosome Aberrations↗