Form Of Atrioventricular Septal Defect Research Articles

Correction of the aortic arch hypoplasia in newborn babies, suffering complete form of atrio-ventricular septal defect

Objective. Tactics of treatment and results of the hypoplasia of the aortic arch correction in newborn babies with complete form of atrio-ventricular septal defect were studied.
 Маterials and methods. During period from 2011 tо 2019 yrs in 21 patients correction of hypoplasia of aortic arch and atrio-ventricular septal defect were performed. The investigated group consisted of patients with a two-ventricular physiology. The patients, suffering imbalanced form of atrio-ventricular septal defect and with variants of hypoplasia in left parts of the heart, were excluded from the investigation. There were 9 (42.9%) boys and 12 (57.1%) girls. Average age of the patients have constituted (2.3 ± 1.1) mo (from 0.06 до 7.7 mo). Average body mass of the patients have constituted (3.8 ± 1.0) kg (from 2.0 до 5.9 kg). The aortic arch segment was considered a hypoplastic one if a Z-score (Standard Score - standard estimation) shift have constituted lesser than 2.0.
 Results. Hospital lethality have constituted 14.2%. Three newborn babies died: 2 - after first stage of correction, and 1 - after second stage of correction. All the patients, to whom a one-staged correction was done, have survived. The causes of lethality were not connected with method of the aortic arch reconstruction. While performance of echocardiography before discharge from the hospital the pressure gradient on place of the aortic arch plasty have constituted (13.6 ± 6.8) mm Hg at average. Average follow-up period have constituted (2.6 ± 2.1) yrs (from 2 mo tо 8.1 yr). In late follow-up period lethality was absent. In 2 (9.5%) patients in postoperative period reoperations on aortic arch and mitral valve were performed. Tracheal compression as well as the main bronchi compression, neurological complications in late follow-up period were absent.
 Conclusion. For the patients, suffering complete form of atrio-ventricular septal defect in conjunction with hypoplasia of aortic arch the staged correction constitutes a more favorable option, owing good immediate and late results. A staged approach in the treatment is indicated for newborn babies, suffering hypoplasia of distal aortic arch and competent atrio-venticular valves or with small regurgitation. Оne-stage correction is indicated in hypoplasia of aortic arch, pronounced regurgitation on common atrio-ventricular valve and pronounced heart failure.

Surgery for Complex forms of Atrioventricular Septal Defect: Early Survival and Probability of Cure

Atrioventricular Septal Defects (AVSD) account for 7.4% of Congenital Heart Defects (CHD). They may occur in isolation, with a narrow spectrum of age at presentation and prognosis, or in association with other intracardiac malformations: here symptoms and needs for treatment vary considerably. Moreover, their frequent association with abnormal genetic disorders, such as Trisomy 21 or Heterotaxy, further complicates the task of surgical treatment. Analysing the data is seemingly complex: some associations are exceedingly rare, while in other more common morphologies, the approach is variable and controversial. Although results have greatly improved in the last decades, early and late survival remains suboptimal, sometimes poor. Early mortality greatly varies, along with complexity of pathophysiology and repair, from 5% to over 30%. The dilemma between high operative risk and palliation of the univentricular type is at times daunting. The possibility of surgical cure is discussed according to surgical options but the frequent need for reintervention makes hope elusive. Late survival greatly differs, from 45% to 80% at 5-year follow-up. It is hardly surprising, in the western type of society, that prenatal diagnosis should result in a high rate of termination of pregnancy. This holds particularly true when a chromosomal abnormality is also identified.

Feasibility of Biventricular Repair in Right Dominant Unbalanced Atrioventricular Septal Defect: A New Echocardiographic Metric to Refine Surgical Decision-Making.

Unbalanced forms of atrioventricular septal defect continue to be challenging and present poor surgical outcomes. Echocardiographic indicators such as atrioventricular valve index, right ventricle/left ventricle inflow angle, and size of the ventricular septal defect have been identified as relevant discriminators that may guide surgical strategy. Our purpose is to describe another metric to refine surgical decision-making. We outline a geometrical description of the anatomic features of atrioventricular septal defect and describe equations that help explain the interplay between the main echocardiographic variables. A new metric called "indexed ventricular septal defect" is defined as the size of the defect in relation to the valve diameter. We derive a final equation relating this index with the atrioventricular valve index and the right ventricle/left ventricle inflow angle. In the light of that equation, we discuss the interdependence of variables and employ data from a Congenital Heart Surgeons' Society study to set the limits of the new index. Combined use of indexed ventricular septal defect and atrioventricular valve index might help clarify surgical decision-making in patients with mild and moderate unbalance (modified atrioventricular valve index between 0.2 and 0.39). For indexed ventricular septal defect smaller than 0.2, biventricular repair may be recommended. Between 0.2 and 0.35, this strategy could probably be achieved depending on other factors. However, other strategies should be considered for those patients showing an indexed ventricular septal defect between 0.35 and 0.5. For values above 0.5 to 0.55, univentricular palliation might be a reasonable strategy.

Nieprawidłowości układu sercowo-naczyniowego w najczęściej występujących zespołach genetycznych u dzieci

Congenital cardiovascular pathology are the most frequent congenital pathologies diagnosed in children and they have an impact on morbidity, mortality and quality of life. About 15-30% of congenital heart malformations are the part of genetic syndromes. Early diagnosis plays a crucial role, specially in life threatening cardiovascular anomalies. Authors discuss the type of cardiovascular pathologies in Down, Turner, Noonan, Williams and deletion 22q11.2 syndromes. Left to right shunt pathology, which lead to the heart failure and pulmonary hypertension, are typical for Down syndrome. Complete form of atrioventricular septal defect is the most sever form of left to right shunt pathologies and is indication for early operation. In Turner syndrome bicuspid aortic valve and aortic coarctation are the most frequent. Noonan syndrome is coexisting with pulmonic valve stenosis, hypertrophic cardiomyopathy and atrial septal defect. Conotruncal anomaly (cyanotic heart pathology) and interrupted aortic arch type B are seen in deletion 22q11.2 syndrome. In Williams syndrome supravalvular aortic stenosis and peripheral pulmonary stenosis are the most frequent. Comprehensive multidisciplinary follow up is very important for those patients.

Novel NKX2-5 germline mutation in a Moroccan child with transitional atrio-ventricular septal defect (tAVSD).

Atrioventricular septal defect is a complex congenital heart defects (CHD) with a prevalence of approximately 4% of all CHDs. Transitional form of atrio-ventricular septal defect (tAVSD) associates ostium primum atrial septal defect, common atrioventricular annulus with distinct atrioventricular valvar orifices in addition of restrictive ventricular septal defect. We describe in this report clinical and molecular features of a Moroccan boy that carries a novel NK2 homeobox 5 (NKX2-5) germline mutation (Pro141Ala), and exhibits a transitional atrio-ventricular septal defect. This phenotype has never been reported in association with NKX2-5 germline mutations. Pro141Ala is a non-reported pathogenic mutation that alters the nuclear localization signal sequence, leading to disruption of NKX2-5 nuclear translocation mechanism. Such alteration would decrease nuclear transcriptional activity of NKX2-5 and impair cardiogenesis process. The present report comes to widen the phenotypic spectrum of congenital heart disease caused by NKX2-5 germline mutations, and highlights as well the importance of the nuclear localization system in NKX2-5 activity.

Partial Zone of Apposition Closure in Atrioventricular Septal Defect: Are Papillary Muscles the Clue

Long-term survival after atrioventricular septal defect repair is excellent; however, postoperative left atrioventricular valve regurgitation affects morbidity and quality of life. Left atrioventricular valve regurgitation is the most common reason for reoperation after repair and it is critical that clinicians recognize pathologic mechanisms pre-repair. In this single-center experience, we identified a pattern of left atrioventricular valve abnormality in 5 cases presenting for routine surgical repair between 1 month and 24 years of age. We reviewed two-dimensional and real-time three-dimensional echocardiographic and surgical findings to assess for specific valvar or sub-valve abnormalities, including short chordae, commissural deformities, and an eccentric zone of apposition. Two-dimensional echocardiography was used to assess the degree of preoperative and postoperative left atrioventricular valve regurgitation. Abnormal features identified included short, thickened chordae, poorly formed superior-mural commissure, and an eccentric zone of apposition. At surgical repair, 2 patients had limited closure of the zone of apposition, as part of a complete repair, and developed only mild left atrioventricular valve regurgitation in short-term follow-up. Two further patients had attempted complete closure of the zone of apposition with moderate postoperative regurgitation ultimately necessitating left atrioventricular valve replacement. This uncommon form of atrioventricular septal defect is identifiable with echocardiography and may be associated with significant postoperative regurgitation if the zone of apposition is completely sutured at time of repair. Limited closure of the zone of apposition may improve postoperative regurgitation.

A Maiden Report on CRELD1 Single-Nucleotide Polymorphism Association in Congenital Heart Disease Patients of Mysore, South India

Cardiac malformations contribute greatly to cardiovascular disease in the young, constituting a major portion of clinically significant birth defects. Congenital heart disease (CHD) is a common congenital cardiac birth defect, affecting nearly 1% of all live births. Although significant advances have been made in understanding mechanisms controlling heart formation, the causes of most CHD in humans remain undefined in the vast majority of cases. Of the several genes identified for CHD, CRELD1 is an important cell adhesion molecule crucial in cardiac development, which is known to cause atrioventricular septal defect in Down syndrome and also in sporadic forms of atrioventricular septal defect. With informed consent, 100 clinically diagnosed CHD patients and 50 healthy controls in Mysore, South India, were recruited for single-nucleotide polymorphism (SNP) genotyping. MassARRAY analysis of five prominent SNPs of CRELD1 was performed. The analysis revealed the occurrence of the SNP c.985 C>T of CRELD1 in two of CHD patients and not in controls. This SNP shows a change from arginine to cysteine in the second calcium-binding epidermal growth factor (EGF) domain, leading to change in the β-sheet in the secondary structure. Therefore, the SNP c.985 C>T of CRELD1 is involved in causing CHD in patients of Mysore, South India.

子牛に認められた部分型房室中隔欠損の1例

A partial form of atrioventricular septal defect was observed in a 28-day-old male Japanese Black calf. In this heart, the lower portion of the interatrial septum and the inlet portion of the interventricular septum were deficient, and clefts were present in both the septal leaflets of the left and right atrioventricular valves. The anterior and posterior bridging leaflets of the atrioventricular valves were joined by a connecting valve tissue tocreate separate left and right atrioventricular orifices. A large interventricular communication was present from beneath the atrioventricular valves to the crest of the ventricular septum.

Surgical treatment of partial atrioventricular septal defect: functional analysis of the mitral valve in the postoperative period.

To study mitral valve function in the postoperative period after correction of the partial form of atrioventricular septal defect. Fifty patients underwent surgical correction of the partial form of atrioventricular septal defect. Their mean age was 11.8 years and 62% of the patients were males. Preoperative echocardiography showed moderate and severe mitral insufficiency in 44% of the patients. The mitral valve cleft was sutured in 45 (90%) patients (group II - GII). Echocardiographies were performed in the early postoperative period, and 6 and 12 months after hospital discharge. The patients who had some type of arrhythmia in the postoperative period had ostium primum atrial septal defect of a larger size (2.74 x 2.08 cm). All 5 patients in group I (GI), who did not undergo closure of the cleft, had a competent mitral valve or mild mitral insufficiency in the preoperative period. One of these patients began to have moderate mitral insufficiency in the postoperative period. On the other hand, in GII, 88.8% and 82.2% of the patients had competent mitral valve or mild mitral insufficiency in the early and late postoperative periods, respectively. The mitral valve cleft was repaired in 90% of cases. Echocardiography revealed competent mitral valve or mild mitral insufficiency in 88.8% and 82.2% of GII patients in the early and late postoperative periods, respectively.

A rare form of atrioventricular septal defect with severe subaortic stenosis

An unusual form of atrioventricular septal defect associated with severe subaortic obstruction is reported in a neonate who presented with intractable cardiac failure. The baby had a large defect in the atrioventricular septum allowing communication from the left ventricle to the right atrium, without interatrial or interventricular communication, and a cleft anterior mitral leaflet. The baby expired despite palliative surgery performed to bypass the subaortic stenosis.

Double orifice right atrioventricular valve in atrioventricular septal defect: morphology and extension of the concept of fusion of leaflets

A rare observation of a double orifice right atrioventricular valve in a partial form of atrioventricular septal defect is reported. The concept of leaflet fusion along part of their anticipated zones of apposition is used to explain the formation of this anomaly. We show that this concept can account for the different morphologic presentations of atrioventricular septal defect.

Pattern of Congenital Heart Disease in the Southwestern Region of Saudi Arabia

The aim of this study was to assess the frequency of various forms of congenital heart disease (CHD) among affected children in the Southwestern region of Saudi Arabia. During the study period (July 1994 to June 1996), 608 children were referred to Asir Central Hospital as having CHD. All the children were evaluated by a pediatric cardiologist and had electrocardiogram and echocardiogram. Of the 608 patients, only 335, comprising 162 males and 173 females, had CHD. The male to female ratio was 0.9:1. The frequency of various forms of CHD was as follows: ventricular septal defect (VSD) 32.5%; patent ductus arteriosus 15.8%; atrial septal defect 10.4%; pulmonary stenosis 10.1%; atrioventricular septal defect and mitral valve prolapse, 3.6% each; aortic coarctation/interruption 3.3%; obstructive aortic valve lesions 2.7%; tetralogy of Fallot 4.5%; common ventricle 2.7%; pulmonary atresia (PA) with VSD 1.8%; D-transposition of the great arteries 1.5%; Ebstein anomaly 1.5%; and isolated PA 1.2%. Other lesions were extremely rare. The distribution in this study is similar to that reported in previous studies from other parts of the world, except for the lower incidence of obstructive aortic valve lesions.

The degree of scooping of the interventricular septum influences electrocardiographic findings in atrioventricular septal defect

AbstractThe aim of this study was to clarify those morphological features and hemodynamic stress factors which influence the electrocardiographic findings in atrioventricular septal defect. In 64 patients with the incomplete form of atrioventricular septal defect (separate valvar orifices) with usual atrial arrangement, the length from the left ventricular apex to the aortic valve (outlet dimension), to the so-called cleft (scoop dimension), and to the lowest point of the left atrioventricular valve (inlet dimension) were measured by biplanar cineangiography. The size of the ostium primum defect, the ventricular pressure ratio, and the pulmonary/systemic flow ratio were also evaluated. The results showed that the lower the scoop/outlet ratio (r=0.60, p<0.001), or the higher the ventricular pressure ratio (r= −0.55, p<0.001), the more deviated to the left and superior was the mean frontal QRS axis. These factors also had significant correlation with the QRS patterns in the Frank vectorcardiogram. We conclude that the scoop/outlet ratio, supposedly reflecting the degree of scooping of the interventricular septum, is one of the most significant factors which influence the electrocardiographic findings in atrioventricular septal defect.

Atypical form of atrioventricular septal defect without left axis deviation: relation between morphology and unusual QRS axis.

To clarify the morphological features relating to an intermediate axis or a right axis deviation in atrioventricular septal defect (AVSD). 135 patients with typical AVSD and with nine patients with atypical AVSD, characterised by a well formed atrial septum, a milder downward displacement of the atrioventricular valves, and a shorter length of the ostium primum defect. Relation between morphology and electrocardiographic and vectorcardiographic findings; prevalence of Down's syndrome and of other cardiac anomalies. All nine patients with atypical AVSD had an unusual mean frontal QRS axis compared with six of the 135 patients (4%) with typical AVSD (p < 0.01). All eight patients who underwent the vector analyses showed atypical movement of the QRS loop--that is, an initial left inferior movement in the frontal loop (eight patients) and counter-clockwise rotation in the sagittal loop (seven). The corresponding values for 119 patients with typical AVSD were 20 and 22 patients (p < 0.01). Seven patients with atypical AVSD (78%) and 55 (41%) with typical AVSD had Down's syndrome (p < 0.05). None of the twenty one patients with additional cardiac anomalies had atypical AVSD, an unusual QRS axis, or unusual movement in the QRS loop. The atypical morphology, supposedly related to the degree of posteroinferior displacement of the conduction system, was one of the causes of unusual movement of the QRS loop in AVSD.

Surgery of atrioventricular septal defects Review of the first 100 cases

From 1972 to 1985, the first 100 children suffering from some form of atrio-ventricular septal defect underwent surgical correction. In all cases, corrective surgery was carried out primarily except in 3 children who presented with a total defect and first underwent palliative surgery. In 48 children, a complete form was present, in 5 an intermediate form, and in 47 a partial form. There were 43 males and 57 females. Thirty-eight percent of patients suffered from Down's syndrome. The mean age at operation was 42 (range 2-143) months. A prosthesis was implanted in the left atrio-ventricular valve at primary correction in 9 patients. Up to 1980, the overall mortality was 20% and from 1981 to 1985 it was 3.3%. There was late mortality in 3 children (2 with a complete form and 1 partial). In 32 cases, postoperative cardiac catheterization was performed. Nine patients were reoperated upon (9%), 2 due to a residual shunt, 4 due to serious mitral incompetence (in all cases a prosthesis was used), and 3 due to valvular thrombosis. In this series, only 2 patients remained in complete atrio-ventricular block (1 affected by the complete form and the other partial). Long term survival is related to the severity of left valvular insufficiency. In this series with a mean follow-up of 3.83 +/- 2.78 years, we had an a cumulative survival of 86.7% +/- 3.43%. At the last control, most of the survivors had a good quality of life: 91% were in class I and 9% in class II according to the NYHA scale.

Optimal management of patients with complete atrioventricular septal defect

Controversy still persists as to whether patients with complete atrioventricular septal defect should be treated by primary total correction or a two-stage approach utilizing initial pulmonary artery banding. We believe a selected management program dictated by each individual patient's anatomy, presentation (size and preoperative functional class), and associated anomalies should be practiced, but with a strong preference toward initial total repair incorporating modern techniques to construct left and right atrioventricular valves, correct valvular incompetence, and close ventricular and atrial defects. Utilizing this management program, 23 consecutive patients (age 5 days to 51 months) with complete forms of atrioventricular septal defect were surgically corrected from July 1, 1984 through June 30, 1988. Fourteen patients were 12 months of age or less at the time of complete repair. Five patients (22%) had initial pulmonary artery banding, but only 2 were performed by us. Both had very extenuating circumstances making complete repair inappropriate. Only 2 of these 23 patients having complete repair died (hospital mortality 9%) and one had pulmonary artery banding 3 years previously. Of the 5 patients with initial pulmonary artery banding, 3 (60%) required right ventricular outflow tract reconstruction and/or repair of pulmonary artery bifurcation stenosis. We believe these good results support our continued practice of selective management of patients with complete forms of atrioventricular septal defect, but we maintain a strong preference toward initial complete repair.

Atrioventricular septal defect with balanced ventricles and malaligned atrial septum: Double-outlet right atrium: Report of two cases

An unusual form of atrioventricular septal defect was found at operation. The anatomy was that of a primum atrial septal defect with deviation of the atrial septum to the left. Thus from the right atrium both right and left atrioventricular valves could be seen. The left-sided valve was tricuspid. Repair was achieved by closure of the septal commissure of the left-sided valve ("cleft"), excision of the lower part of the atrial septum, and insertion of a pericardial patch. The lower part of the patch was sutured between the left and right atrioventricular valves. A specimen with similar anatomy is also described.

The Fontan procedure in the absence of the interatrial septum: Failure of its principle?

The Fontan principle, defined as a procedure in which the right ventricle is bypassed in order to convey desaturated venous blood from the right atrium to the lungs, is presently applied for a wide variety of congenital heart malformations including those in which there is no suitable ventricular pumping chamber. Recently, the procedure has also been advocated for complex malformations that require atrial septation or intra-atrial rerouting. The present report evaluates our experience in four patients with such complex malformations. Three had a complete form of atrioventricular septal defect with double-outlet right ventricle and one patient had left atrioventricular valve atresia. The common atrium was morphologically right in two patients and morphologically left in one. In each of these instances anomalous pulmonary venous connections were present, together with abnormal systemic venous connections. The results were unsatisfactory. Three of the four patients died. The only survivor had no pulmonary or systemic venous abnormalities. Severe impairment of pulmonary blood flow was one of the most important postoperative complications. The findings suggest that the complexities of rerouting the blood within the atria play an important role. The excess proportion of prosthetic material to atrial myocardium may result in excessive loss of contractile atrial myocardium and, probably equally significant, in a complex intra-atrial geometry of pathways that may cause a critical pressure gradient. The results clearly show that with an expanding horizon of the application of the Fontan principle, new pitfalls may arise which presently appear to be the prevailing factors limiting its success.