Cross sectional subcostal echocardiography: atrioventricular septal defects and the short axis cut.

A short axis echocardiographic cut of the heart from the subcostal approach was used to study the atrioventricular junction in 47 infants and children with congenital heart disease and 20 with normal hearts. Examination of the diastolic openings of both atrioventricular valves was able to establish normal developments of the valves and annuli even when this was found in cases of complex congenital heart disease. In 30 patients with atrioventricular septal defects the technique distinguished between a partial defect (when the two atrioventricular valves were linked transseptally) and a complete defect (when there was only one atrioventricular valve). A range of atrioventricular attachments was seen in these patients. Short axis echocardiography from the subcostal approach reliably identifies different forms of atrioventricular septal defects by defining the anatomy of the atrioventricular valves during maximal diastolic expansion.     

Double orifice mitral valve. Study with two-dimensional echocardiography

Double orifice mitral valve is a rare congenital anomaly which is frequently associated with atrioventricular defects. According to its structure it is classified as central, commissural or valvar. Diagnosis by cross-sectional echocardiography was verified in 4 patients with a double orifice mitral valve of the central type. Age of the patients at the time of diagnosis ranged from 3 months to 17 years. Three of them had an associated ostium primum atrial septal defect. The defect was observed in parasternal long-short axis views and subcostal 4 chamber axis views. The parasternal short axis gave information on the central type but subvalvular structures of the double orifice and insertion of the chords in papillary muscle were best observed in parasternal long and subcostal four chamber axis views.     

Two dimensional echocardiography in congenital heart disease

Two dimensional echocardiography has enhanced the ability of the clinician to define accurately intracardiac anatomy and great vessel relations. By visualizing relations of the great arteries and determining ventricular situs in the parasternal short axis planes and by assessing the relation of the great arteries to ventricles, atrioventricular (A-V) valves and the interventricular septum in the parasternal and apical long axis view, complex congenital heart disorders can readily be differentiated. The subcostal approach allows accurate identification and localization of interatrial and interventricular septal defects. Utilizing the apical parasternal four chambered or subcostal four chambered view, complex malformations of the A-V valves such as complete endocardial cushion defect and Ebstein's anomaly can readily be appreciated. The suprasternal approach has allowed direct visualization of a coarcted aortic segment. The differentiation of left and right ventricular outflow obstruction is also possible. In some patients, it is possible to achieve an accurate diagnosis with two dimensional echocardiography alone. In others, two dimensional echocardiography provides accurate and detailed information with regard to spatial anatomy and valve morphology so that invasive studies can be performed more expeditiously, with less contrast agent and hence with greater safety.

With regard to future developments, better resolution capability with newer instrumentation and combined two dimensional echocardiography with Doppler blood flowmeter studies may provide even greater diagnostic accuracy in the evaluation of patients with congenital heart disorders.     

Complete atrioventricular septal defect with tetralogy of Fallot: diagnosis and management.

OBJECTIVE--To report recent experience of patients with complete atrioventricular septal defect and tetralogy of Fallot, with emphasis on anatomical features, diagnosis, and management. DESIGN--Case notes were reviewed and patients were assessed at follow up by clinical examination and cross sectional and Doppler echocardiography. SETTING--Tertiary cardiothoracic referral centre. PATIENTS--Between 1987 and 1992 13 patients with atrioventricular septal defect and tetralogy of Fallot (12 with concordant and one with double outlet ventriculoarterial connections) underwent surgery; 10 underwent complete intracardiac repair. 11 patients had Down's syndrome. The complete diagnosis was established preoperatively by cross sectional echocardiography in all but one patient. A tri-leaflet left atrioventricular valve as seen in parasternal short axis views was the diagnostic feature of atrioventricular septal defect, with tetralogy of Fallot diagnosed from the presence of anterocephalad deviation of the outlet septum producing subvalvar pulmonary stenosis as seen in subcostal right anterior oblique views. INTERVENTIONS--Total correction consisted of closure of the atrioventricular septal defect by a combined right atrial and ventricular approach, reconstruction of the atrioventricular valves, and relief of the obstruction within the right ventricular outflow tract. Separate patches were used to close the atrial and ventricular septal defects. Modified Blalock-Taussig shunts were performed in three patients, who await intracardiac repair. Surgical correction was carried out at mean (range) age of 5 (2 to 15) years. MAIN OUTCOME MEASURES--Diagnostic methods, surgical results, and functional state after complete correction. RESULTS--The presence of an atrioventricular septal defect was missed preoperatively in one patient with tetralogy of Fallot. The characteristic goose neck deformity on the left ventriculogram was not present and the tri-leaflet nature of the left atrioventricular valve was not sought on echocardiography. Of the 10 patients who underwent complete repair, nine are alive and one died 34 days after operation with adult respiratory distress syndrome. Examination at necropsy showed an excellent surgical correction. Mean (range) follow up was 23 (8 to 48) months. All nine patients are alive and well (New York Heart Association Class 1). CONCLUSION--Accurate diagnosis and staged management with improved surgical techniques have lowered mortality of this complex combination of cardiac defects. The current policy of this group is to recommend a systemic to pulmonary arterial shunt procedure for symptomatic children younger than 2 years and total correction in older children.     

Long-term survival in children with atrioventricular septal defect and common atrioventricular valvar orifice in Sweden

BACKGROUND: The survival for patients with atrioventricular septal defect has improved markedly over the last decades and, during the same period, the survival of children with Down's syndrome has also increased. The aim of our study was to investigate long-term survival in patients having atrioventricular septal defect with common valvar orifice, but without associated significant congenital heart defects, in the setting of Down's syndrome, comparing the findings to those in chromosomally normal children with the same malformation. METHODS AND RESULTS: In a population-based retrospective study, we scrutinised the medical records from 801 liveborn children with atrioventricular septal defect born in Sweden during the period 1973 through 1997. Data on gender, presence or absence of Down's syndrome, associated congenital heart defects, date of birth, operation and death were recorded and followed up until 2001. An isolated atrioventricular septal defect with common atrioventricular valvar orifice was present in 502 children, of whom 86% had Down's syndrome. We found a significant reduc tion over time in age at operation, and in postoperative mortality at 30 days, from 28 to 1%. Using a multiple logistic regression model, we found no significant differences in mortality between genders, nor between those with or without Down's syndrome. Early corrective surgery could not be identified as a significant independent factor for survival. The 5-year postoperative survival in patients with Down's syndrome increased from 65% over the period from 1973 through 1977, to about 90% in the period 1993 through 1997, and the same trend was observed in chromosomally normal patients. CONCLUSIONS: Survival in uncomplicated atrioventricular septal defect with common atrioventricular valvar orifice has greatly increased, and surgical correction is now equally successful in patients with Down's syndrome and chromosomally normal patients, and for both genders. Death in connection with surgery is no longer the major threat, and focus must now be on long-term follow-up.     

Down Syndrome with Complete Atrioventricular Septal Defect,Hypertrophic Cardiomyopathy,and Pulmonary Vein Stenosis

The prevalence of congenital heart disease in infants with Down syndrome is 40%, compared with 0.3% in children who have normal chromosomes. Atrioventricular and ventricular septal defects are often associated with chromosomal aberrations, such as in trisomy 21, whereas hypertrophic cardiomyopathy is chiefly thought to be secondary to specific gene mutations. We found only one reported case of congenital hypertrophic cardiomyopathy and atrioventricular septal defect in an infant with Down syndrome. Here, we report atrioventricular septal defect, hypertrophic cardiomyopathy, and pulmonary vein stenosis in a neonate with Down syndrome—an apparently unique combination. In addition, we discuss the relevant medical literature.     

Surgical experience with congenital heart disease in Down's syndrome

Children with Down's syndrome and congenital heart defects have multiple problems. The role of cardiac surgery in the management of these patients was investigated by reviewing the clinical data, hospital course and follow-up of 21 patients (9 males and 12 females, age range 1 month to 14 years) with Down's syndrome and congenital heart defects operated in our institute. Twelve (57%) of these were infants and nine (43%), older children. Five were in congestive cardiac failure, four were hypothyroid. The heart lesions ranked in incidence as follows: atrioventricular septal defect 7 (33.3%), tetralogy of Fallot 3 (14.3%), tetralogy of Fallot & atrioventricular septal defect both 2 (9.5%), double outlet right ventricle with pulmonary stenosis 1 (4.8%), patent ductus arteriosus 2 (9.5%), patent ductus arteriosus plus coarctation 1 (4.8%), ventricular septal defect 2 (9.5%), atrial septal defect plus ventricular septal defect 1 (4.8%), atrial septal defect plus patent ductus arteriosus plus right pulmonary artery stenosis 1 (4.8%) and transposition of great arteries with multiple ventricular septal defect 1 (4.8%). Four (19%) patients had palliative procedures while the rest (81%) underwent primary repair. All survived the operation. The post-operative period was complicated in 6 (28.5%), with respiratory infections in 3, pulmonary hypertensive crisis in 2 and complete heart block in 1. The early mortality was 0, while there were 2 (9.5%) late deaths. The number of hospitalisations was markedly reduced according to the parents. Follow-up showed near normal pulmonary artery pressure in 50 percent children with large shunts and a good developmental spurt was seen in 60 percent. From a purely surgical viewpoint, the prognosis for children with Down's syndrome and congenital heart disease is good.     

Congenital heart disease in Down's syndrome patients: a decade of surgical experience

Patients with Down's syndrome represent a significant subset of patients with congenital heart disease. Fifty-five patients with Down's syndrome have undergone surgical treatment for congenital heart disease at our institution in the past decade. Twenty-six had atrioventricular canal, 11 had ventricular septal defect, 7 had secundum atrial septal defect, 7 had tetralogy of Fallot, 3 had primum atrial septal defect and 1 patient had double outlet right ventricle. The thirty day mortality following operative intervention was 16.4%. Mortality was highest for tetralogy of Fallot followed by atrioventricular canal and ventricular septal defect. Long term mortality for all lesions was 27.3% over our follow-up period which averaged 33 months. Thirty day mortality compared similarly to previous reports of surgically treated Down's syndrome patients. When compared to our patients without Down's syndrome, the Down's population did not exhibit an increased risk for surgical treatment of congenital heart disease.     

BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease.

The aim of the present study was to determine if patients with both pulmonary arterial hypertension (PAH), due to pulmonary vascular obstructive disease, and congenital heart defects (CHD), have mutations in the gene encoding bone morphogenetic protein receptor (BMPR)-2. The BMPR2 gene was screened in two cohorts: 40 adults and 66 children with PAH/CHD. CHDs were patent ductus arteriosus, atrial and ventricular septal defects, partial anomalous pulmonary venous return, transposition of the great arteries, atrioventicular canal, and rare lesions with systemic-to-pulmonary shunts. Six novel missense BMPR2 mutations were found in three out of four adults with complete type C atrioventricular canals and in three children. One child had an atrial septal defect and patent ductus arteriosus; one had an atrial septal defect, patent ductus arteriosus and partial anomalous pulmonary venous return; and one had an aortopulmonary window and a ventricular septal defect. Bone morphogenetic protein receptor 2 mutations were found in 6% of a mixed cohort of adults and children with pulmonary arterial hypertension/congenital heart defects. The current findings compliment recent reports in mouse models implicating members of the bone morphogenetic protein/transforming growth factor-beta pathway inducing cardiac anomalies analogous to human atrioventricular canals, septal defects and conotruncal congenital heart defects. The small number of patients studied and the ascertainment bias inherent in selecting for pulmonary arterial hypertension require further investigation.     

Malformations of the tricuspid valve associated with Fallot's tetralogy. Apropos of a series of 224 surgically treated Fallot's tetralogies

This study was based on 7 children aged 20 months to 13 years with tetralogy of fallot (TOF) and tricuspid valve defects. Cases of endocardial cushion defects (8 cases of atrioventricular) were excluded. Three types of tricuspid valve defect were observed: 4 tricuspid valve prolapse (with one associated mitral valve prolapse); 2 accessory tricuspid valves passing through a ventricular septal defect to prolapse in diastole under the aortic valve; 1 Ebstein anomaly. The prevalence of tricuspid valve defects associated with TOF 3 p. 100 in this series. The diagnosis can: usually be made by 2D echocardiography. Tricuspid valve prolapse (usually the septal leaflet) is visualised in the apical 4 chamber view. The passage of accessory tricuspid tissue across the VSD into the left ventricular outflow tract is visible in the parasternal long axis or subcostal long axis views. Ebstein anomaly can be demonstrated in apical 4-chamber views showing the abnormally apical site of insertion of the septal leaflet of the tricuspid valve and "atrialisation" of part of the right ventricle. Tricuspid valve defects did not pose any special surgical problems during complete repair of TOF but this series did not include any cases of tricuspid hypoplasia or parachute tricuspid valve which have been reported in the literature and which do complicate surgery. Tricuspid valve and subendocardial cushion defects should be looked for systematically in patients with TOF undergoing 2D echocardiography.     

Diagnosis of tachycardia mechanism with cryomapping in a toddler with complex congenital heart disease

A 2.5-year-old patient with complex congenital heart disease involving dextrocardia, atrioventricular and ventriculoarterial discordance, pulmonary stenosis, ventricular septal defect (VSD), atrial septal defect (ASD), and paroxysmal supraventricular tachycardia (SVT) underwent electrophysiological study. The tachycardia mechanism was diagnosed with cryomapping. The ability of cryomapping to have transient and reversible effect on the tissue, unlike radiofrequency (RF) ablation, helped in the establishment of diagnosis in this toddler with typical atrioventricular nodal reentrant tachycardia. Cryomapping can be an additional safe diagnostic utility in young patients with complex congenital heart disease.     

Magnetic resonance imaging at a high field strength of ventricular septal defects in infants.

Magnetic resonance imaging at a high field strength has potential benefits for the study of the heart in infants, which is when most congenital heart disease presents. Seventeen infants with various anatomical types of ventricular septal defect were studied by this technique. Good quality, high resolution, images were obtained in every case. There were no major practical problems. The morphology of the defects in all 17 hearts was displayed in great detail. In some instances, the interpretation of the images resembled that of equivalent images from cross sectional echocardiography. But this new technique allowed imaging in planes that cannot be obtained by echocardiography. One particularly valuable plane gave a face on view of the inlet and trabecular components of the septum. This allowed very precise localisation of defects in these areas. The relation between the defects and the atrioventricular and arterial valves was exceptionally well shown in various different imaging planes. One patient in the series had multiple trabecular defects that were clearly shown. Magnetic resonance imaging gives detailed morphological information about ventricular septal defects.     

Magnetic resonance imaging at a high field strength of ventricular septal defects in infants

Magnetic resonance imaging at a high field strength has potential benefits for the study of the heart in infants, which is when most congenital heart disease presents. Seventeen infants with various anatomical types of ventricular septal defect were studied by this technique. Good quality, high resolution, images were obtained in every case. There were no major practical problems. The morphology of the defects in all 17 hearts was displayed in great detail. In some instances, the interpretation of the images resembled that of equivalent images from cross sectional echocardiography. But this new technique allowed imaging in planes that cannot be obtained by echocardiography. One particularly valuable plane gave a face on view of the inlet and trabecular components of the septum. This allowed very precise localisation of defects in these areas. The relation between the defects and the atrioventricular and arterial valves was exceptionally well shown in various different imaging planes. One patient in the series had multiple trabecular defects that were clearly shown. Magnetic resonance imaging gives detailed morphological information about ventricular septal defects.     

Congenital cardiac abnormalities in monozygotic twins. Report and review of the literature.

A pair of monozygotic twin girls is reported with concordance for 3 congenital cardiac abnormalities: (1) secundum atrial septal defect, (2) aneurysm of the membraneous ventricular septum, and (3) electrocardiographic frontal plane left axis deviation. A review of the published materials shows a 9.5 per cent incidence of concordance for congenital heart disease among monozygotic twins. In those in whom a precise cardiological diagnosis was made, 15/16 pairs (95%) were concordant for a specific defect, 2 had an additional defect, and only 1 pair had completely dissimilar defects. Concordance for congenital heart disease in monozygotic twins is uncommon, but when it occurs the defects will most often be identical.     

Atrioventricular valve abnormalities in infancy: two-dimensional echocardiographic and angiocardiographic comparison

The results of two-dimensional echocardiography and biplane angiocardiography from 47 infants with congenital atrioventricular (AV) valve abnormalities were compared. Eleven patients had atresia of the right AV valve, 10 had atresia of the left AV valve, 4 had hypoplasia of the right AV valve and 5 had hypoplasia of the left AV valve. Twelve patients had endocardial cushion defect, three had single ventricle and two had straddling of the left AV valve. There was agreement between the two techniques as to the number of AV valves present in each patient. The echocardiographic estimate of valve anular diameter was below normal in seven of the eight patients thought to have a hypoplastic anulus by angiocardiography. In 10 of the 12 patients with endocardial cushion defect, there was agreement between the two techniques as to the presence or absence of atrial and ventricular septal defect. The chordal attachments of straddling valves were better visualized by echocardiography; flow patterns and effective orifice size were better demonstrated by angiocardiography. The subcostal four chamber echocardiographic views and cranially angulated oblique angiocardiographic views were comparable and provided the best images for determination of the size and number of AV valves and their relation to the atrial and ventricular septa.     

Congenital cardiac abnormalities in monozygotic twins. Report and review of the literature

A pair of monozygotic twin girls is reported with concordance for 3 congenital cardiac abnormalities: (1) secundum atrial septal defect, (2) aneurysm of the membraneous ventricular septum, and (3) electrocardiographic frontal plane left axis deviation. A review of the published materials shows a 9.5 per cent incidence of concordance for congenital heart disease among monozygotic twins. In those in whom a precise cardiological diagnosis was made, 15/16 pairs (95%) were concordant for a specific defect, 2 had an additional defect, and only 1 pair had completely dissimilar defects. Concordance for congenital heart disease in monozygotic twins is uncommon, but when it occurs the defects will most often be identical.     

Double-inlet single left ventricle: echocardiographic anatomy with emphasis on the morphology of the atrioventricular valves and ventricular septal defect.

The echocardiographic anatomy of double-inlet single left ventricle was studied in 57 patients, aged 1 day to 27 years (mean 6 years); the variables examined included morphology, size and function of the atrioventricular (AV) valves and ventricular septal defect and their relation to pulmonary stenosis, aortic stenosis and aortic arch obstruction. The visceroatrial situs was solitus and the heart was in the left side of the chest in all 57 patients. A d-loop ventricle was present in 21 patients and an l-loop ventricle in 36. The great arteries were normally related (Holmes heart) in 8 patients and transposed in 49. In all hearts, the right AV valve was anterior to the left AV valve. In 53 patients, the tricuspid valve (right valve in d-loop and left valve in l-loop) was closer to and had attachments on the septum. The tricuspid valve straddled the outflow chamber in eight patients. No significant difference was noted in the mean AV valve diameter when comparing mitral and tricuspid valves within the same group or between the groups with a d- or l-loop ventricle. The right AV valve diameter had a significant direct correlation with the aortic valve diameter and the size of the ventricular septal defect regardless of ventricular loop. Both AV valves were functionally normal in 34 patients. Among patients with AV valve dysfunction, the tricuspid valve tended to be stenotic in patients with an l-loop ventricle and regurgitant in patients with a d-loop ventricle. Mitral valve dysfunction was uncommon. The ventricular septal defect (46 patients) was separated from the semilunar valves in 24 patients (muscular defect) and adjacent to the anterior semilunar valve as a result of hypoplasia or malalignment, or both, of the infundibular septum (subaortic defect) in 19 patients. Multiple defects were present in three patients. The defect was unrestrictive in 26 patients, restrictive in 23 and could not be evaluated in 8. Pulmonary artery banding had been performed in 8 of the 26 patients with an unrestrictive defect and in 10 of the 23 patients with a restrictive defect. Only 4 of 19 subaortic defects compared with 16 of 24 muscular defects were restrictive. The size of the defect was significantly correlated with the measured pressure gradient. Among patients with transposition, only 2 of 13 with pulmonary stenosis had a restrictive ventricular septal defect compared with 15 of 30 without pulmonary stenosis. In patients with transposition, the defect size was significantly smaller when coarctation was present.     

Added value of three‐dimensional transthoracic echocardiography in assessment of an adult patient with atrioventricular septal defect

Transthoracic echocardiography is the principal imaging modality for assessment of patients with atrioventricular septal defects. Three‐dimensional echocardiography streamlines and simplifies data acquisition offering a unique realistic en‐face display of heart valves and septal defects and enables accurate evaluation of the cardiac anatomy, dynamic, and function. We demonstrated an added value of three‐dimensional echocardiography in assessment of an adult patient with atrioventricular septal defect and its advantages over conventional echocardiography.     

Familial atrioventricular septal defect: possible genetic mechanisms.

BACKGROUND--Most non-chromosomal congenital heart defects are thought to be caused by the interaction of genetic factors involving multiple genes and environmental factors. Families that have several affected members have been reported, however, which suggests that a single autosomal dominant or recessive gene may cause the cardiac defects. A family in which atrioventricular septal defect seemed to be a single gene disorder is reported. OBSERVATIONS--A family in which the mother and her two daughters from different fathers had atrioventricular septal defect not associated with trisomy 21 is reported. CONCLUSIONS--This family raises the possibility that cytoplasmic or mitochondrial inheritance may be involved in the causation of atrioventricular septal defects. The available data from pedigrees from other cases of familial atrioventricular septal defect do not support this genetic mechanism, but suggest that there is a subgroup without trisomy 21 that has a single gene disorder.