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.     

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)     

Arteriosclerotic heart disease following correction of tetralogy of Fallot

An increasing number of people who have undergone surgical repair of tetralogy of Fallot are living long lives. Several late sequelae of corrected tetralogy of Fallot have been found, including residual ventricular septal defect, restenosis of the pulmonary outflow tract, ventricular tachycardia, and right ventricular failure from pulmonary insufficiency. A long-term survivor of corrected tetralogy of Fallot is reported with acquired coronary artery disease unrelated to the congenital anomaly or its correction as an additional cause of late morbidity in this select but growing population of patients.     

Heart malformations in trisomy 13 and trisomy 18]

Congenital heart diseases were studied in children diagnosed of trisomy 13 and trisomy 18 in our hospital between January 1973 and July 1990. Twenty patients with trisomy 18 were diagnosed (18 females and two males). All had cardiac malformations. The findings were: ventricular septal defect in 16 cases (80%), valvular anomalies in 12 (63%), patent ductus arteriosus in nine (47%) and atrial septal defect or patent foramen ovale in 7 cases (36%). We found some complex congenital cardiac diseases: one atrioventricular canal, one tetralogy of Fallot, one hypoplastic left ventricle with mitral atresia and double outlet right ventricle, one case of univentricular heart with aortic outlet from a rudimentary cavity, a right ventricular atresia with pulmonary and tricuspid valves atresia. Nine cases of trisomy 13 were diagnosed (seven females and two males). We found: ventricular septal defect in 7 cases (77%), valvular disease in five (100% of the necropsy studies), secundum atrial septal defect in 4 patients (80%) and patent ductus arteriosus in two. Two cases presented hypoplastic left ventricle with aortic arch hypoplasia, one of them had subaortic stenosis and left superior vena cava being connected to the right atrium via coronary sinus; one case showed fibroelastosis. Our results have been similar to the previously reported and confirm the invariably presence of cardiac malformations in these syndromes. These malformations are an important sign of suspicion in fetal ultrasonography.     

Diagnostic Role of Magnetic Resonance Imaging in Identifying Aortic Arch Anomalies

Purpose. The aim of this article was to assess the role of MRI in the diagnosis and management of a variety of complex aortic arch anomalies. Materials and Methods. Imaging was performed on a 1.5T Philips Gyroscan Intera. We retrospectively reviewed all cardiac MR scans performed from November 2003 to February 2007 at our institute to identify aortic arch anomalies. Magnetic resonance imaging included three‐dimensional (3D) sagittal volume images, cine images, short axis ventricular volumes, phase contrast flow of great vessels, and 3D gadolinium magnetic resonance angiogram. Results. Three major categories of anomalies were identified in 47 patients: double aortic arch (n = 9), right‐sided aortic arch with mirror image branching (n = 28), and aberrant right subclavian artery (n = 10). In the double aortic arch group, six patients were symptomatic, and four of them underwent a surgical division. Magnetic resonance imaging was used to plan the surgical management. In the other two groups, no patient presented with symptoms of airway or esophageal compression, and the arch abnormalities were noticed during investigation for other associated cardiac disease. However, we noticed a strong correlation with well‐defined subgroups of congenital heart disease. Right‐sided aortic arch was seen in patients with pulmonary atresia with ventricular septal defect (46.4%), tetralogy of Fallot (32.1%), and double outlet right ventricle with right atrial isomerism (14.2%). Seventy percent of the patients with aberrant right subclavian artery had aortic coarctation, and another case presented a complete aortic arch interruption. Conclusion. Magnetic resonance imaging is an important diagnostic tool in identifying anomalies of the aortic arch and its branches and can be considered the imaging technique of choice when planning surgical management, especially when there are associated cardiac anomalies.     

Cardiovascular malformations in DiGeorge syndrome (congenital absence of hypoplasia of the thymus).

Partial or complete absence of the thymus (DiGeorge syndrome, III-IV pharyngeal pouch syndrome) is often associated with agenesis or hypoplasia of the parathyroid glands and, almost invariably, with cardiovascular malformations. The clinical and pathologcial findings in 10 cases proven at necropsy are presented. All patients presented with cardiac symptoms and signs in the first weeks of life and, with one exception, all died of a cardiac cause. Major cardiovascular malformations were found in all 10 cases. Four had, in association with a ventricular septal defect of the infundibular type, an interrupted aortic arch, which was left-sided in two and right-sided in two other cases. Four patients had truncus arteriosus type I, in two of them associated with a right-sided aortic arch. Two patients with tetralogy of Fallot had a right-sided aortic arch. Only two of the 10 had a normally developed left aortic arch. Aberrant subclavian arteries were found in five cases. From our observations and a survey of the previously published patients it appears that 90 per cent of the necropsy-proven cases of DiGeorge syndrome have cardiovascular malformations and that 95 per cent of these malformations can be classified as aortic arch anomalies, truncus ateriosus, or tetralogy of Fallot.     

Interrupted right aortic arch in DiGeorge syndrome.

The clinical and necropsy findings in four cases of interrupted right aortic arch and right descending aorta associated with DiGeorge syndrome (congenital absence or hypoplasia of the thymus and parathyroids) are described. All patients had a mirror image of type B interruption, namely a right aortic arch with reversed branching pattern and an interruption between the right common carotid and right subclavian artery. In two patients there was a doubly committed subarterial ventricular septal defect and in the two other patients there was a perimembranous septal defect. Three patients had a bicuspid aortic valve. In a consecutive series of 185 necropsies in infants and children with congenital heart disease there were no cases of interrupted right aortic arch that were not associated with DiGeorge syndrome. These observations and previous reports indicate that the concurrence of these two rare conditions is more than fortuitous. In patients with an interrupted aortic arch the clinician should be aware of the common association with DiGeorge syndrome. If the interruption is associated with a right-sided descending aorta it is highly probable that the patient has DiGeorge syndrome.     

Interrupted right aortic arch in DiGeorge syndrome

The clinical and necropsy findings in four cases of interrupted right aortic arch and right descending aorta associated with DiGeorge syndrome (congenital absence or hypoplasia of the thymus and parathyroids) are described. All patients had a mirror image of type B interruption, namely a right aortic arch with reversed branching pattern and an interruption between the right common carotid and right subclavian artery. In two patients there was a doubly committed subarterial ventricular septal defect and in the two other patients there was a perimembranous septal defect. Three patients had a bicuspid aortic valve. In a consecutive series of 185 necropsies in infants and children with congenital heart disease there were no cases of interrupted right aortic arch that were not associated with DiGeorge syndrome. These observations and previous reports indicate that the concurrence of these two rare conditions is more than fortuitous. In patients with an interrupted aortic arch the clinician should be aware of the common association with DiGeorge syndrome. If the interruption is associated with a right-sided descending aorta it is highly probable that the patient has DiGeorge syndrome.     

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.     

Anomalous subaortic position of the brachiocephalic vein (innominate vein): an echocardiographic study.

In 24 (0.98%) of 2457 patients with congenital heart disease the brachiocephalic vein was in an anomalous position below the aortic arch. This is a much higher proportion of such cases than reported so far. This high frequency may arise from differences in the study population and the method of diagnosis. This venous anomaly was more common in patients with tetralogy of Fallot or ventricular septal defect with pulmonary atresia. Patients with the venous anomaly were more likely to have a right aortic arch. The anomalous course of the brachiocephalic vein from the neck to the junction of the superior vena cava was shown by cross sectional echocardiography. In doubtful cases, Doppler study usually clarified the anatomical arrangement.     

Anomalous subaortic position of the brachiocephalic vein (innominate vein): an echocardiographic study

In 24 (0.98%) of 2457 patients with congenital heart disease the brachiocephalic vein was in an anomalous position below the aortic arch. This is a much higher proportion of such cases than reported so far. This high frequency may arise from differences in the study population and the method of diagnosis. This venous anomaly was more common in patients with tetralogy of Fallot or ventricular septal defect with pulmonary atresia. Patients with the venous anomaly were more likely to have a right aortic arch. The anomalous course of the brachiocephalic vein from the neck to the junction of the superior vena cava was shown by cross sectional echocardiography. In doubtful cases, Doppler study usually clarified the anatomical arrangement.     

Left common carotid artery arising from the pulmonary artery in a patient with DiGeorge syndrome.

A female infant, born at 33 weeks' gestation with tetralogy of Fallot, died of severe perinatal asphyxia 6 hours after birth. Necropsy disclosed two associated vascular anomalies: a right aortic arch with a left common carotid artery arising from the pulmonary artery (isolated left common carotid artery) and an aberrant left subclavian artery arising from the descending aorta. Agenesis of the thymus and parathyroid gland was also found, suggesting that the child also had DiGeorge syndrome. Origin of the left common carotid artery from the pulmonary artery is exceedingly rare. When planning surgical treatment it is important to be aware of the possibility of this anomaly occurring in association with congenital heart disease, particularly in the presence of tetralogy of Fallot, right sided aortic arch, or DiGeorge syndrome.     

Transaortic Fallot repair in a grown-up patient: advantages in a situs inversus setting

We present the case studies of two adult patients with tetralogy of Fallot who were scheduled for surgery. After addressing the right ventricular outflow tract obstruction, the aorta was opened and the ventricular septal defect was approached in a straightforward manner as it was located just under the overriding aortic valve. The second patient presented with was a situs inversus, dextroapex Fallot. In this setting, the aortic approach simplified the repair expeditiously. After 2 years, both patients are in New York Heart Association class I, with no residual ventricular septal defect, no aortic regurgitation, and complete relief of right ventricular outflow tract obstruction.     

The Italian Multicentric Study on Epidemiology of Congenital Heart Disease: first step of the analysis. Working Party of the Italian Society of Pediatric Cardiology.

We present the aims, methodology and initial results from the Italian Multicentric Study for the registration and follow-up of congenital heart disease. The general aims are to measure the prevalence of congenital heart disease in different geographic areas of Italy, and to assess the survival and outcome of affected babies. During the years 1992 and 1993, eighteen centers for Pediatric Cardiology spread all over the Country enrolled 1445 new babies with congenital cardiac malformations from a population of 341,647 surveyed livebirths. The new cases were registered using the same methodologic criteria of the EUROCAT study in order to evaluate differences and/or similarities between the studies. The prevalence varied between 1.8% and 8.1%; the average being 4.6%. The large range in prevalence is presumed to be related to different customs and hierarchies in flow and referral of patients. We provide total prevalence of individual lesions, and distribution of sentinel cardiac anomalies, in the Italian study and compare them with EUROCAT. Isolated ventricular septal defect is the most common lesion (39%); followed by atrial septal defect (7.5%); pulmonary valvar stenosis (7.3%); atrioventricular septal defects (5.4%); patency of the arterial duct (3.8%); complete transposition (3.7%); tetralogy of Fallot (3.3%); aortic coarctation (2.4%); aortic valvar stenosis (2.2%); and left heart hypoplasia (1.8%). The echographic stratification of ventricular and atrial septal defects, by location and size, was in keeping with the findings of the EUROCAT study. Because of the recent widespread availability of color-Doppler techniques, the stratification of aortic and pulmonary valvar stenosis was an innovative approach in our study. Among the complex cardiovascular anomalies, double inlet ventricle and pulmonary atresia had a proportion of about 2% each; with double outlet right ventricle, common arterial trunk, Ebstein's malformation, tricuspid atresia, interrupted aortic arch and totally anomalous pulmonary venous connection having a proportion ranging from 0.5 to 0.8%. We discuss clinical features, such as frequency of extracardiac anomalies and familial aggregation of congenital heart disease, in comparison with the EUROCAT data.     

Congenital diverticulum of the right ventricle associated with coarctation of aorta, atrial and ventricular septal defect and ductus.

Congenital right ventricular muscular diverticula are extremely rare and are usually associated with other congenital cardiac anomalies, (in half of the cases tetralogy of Fallot). They functionally behave like an accessory ventricular chamber which contracts synchronously with the normal ventricles.Less than 30 patients with a right ventricular diverticulum have been reported in literature. An apical right ventricular diverticulum occurs in patients with thoraco-abdominal midline defects or abnormalities of the cardiac position([1]). However, an antero-superior diverticulum is usually associated with other congenital cardiac defects, such as a ventricular septal defect, tetralogy of Fallot, double outlet right ventricle and pulmonary stenosis([2--9]).We report an 11-year-old boy with an antero-superior diverticulum of the right ventricle associated with a coarctation of aorta, ductus arteriosus, and atrial and ventricular septum defects. To the best of our knowledge, such an association has not been reported before.     

Congenital cardiopathies in the newborn]

Ten years experience in newborn congenital cardiac malformations with severe hemodynamic changes is reported. The anatomic diagnosis was made at necropsy (85%) or by cardiac catheterization and angiocardiography (15%). One hundred and twenty-six cases were found in which aortic valve atresia or stenosis, tricuspid atresia, cardiac anomalies associated to visceral heterotaxy, tetralogy of Fallot, aortic coartation, endocardial cushion defect, ventricular septal defect, total anomalous pulmonary venous return and pulmonary atresia with intact ventricular septum were the most common malformations. They presented with either cardiac insufficiency or hypoxia and acidosis. The principal anatomic features of these cases were discussed and the associated malformations in other systems was noted.     

Frequency of aberrant subclavian artery, arch laterality, and associated intracardiac anomalies detected by echocardiography

Tetralogy of Fallot is generally considered to be the most common congenital heart defect associated with an aberrant subclavian artery (ASA), but the prevalence of ASA in patients with other cardiac anomalies is not well described. The pediatric echocardiography database, with 15,871 initial echocardiograms, was searched for all patients with ASA. Arch laterality and associated intracardiac anomalies were documented for each patient. ASA was found in 226 patients, of whom 171 had a left aortic arch (LAA) and 55 had a right aortic arch (RAA). The occurrence of ASA was 1% in patients with LAA (171 of 15,650) and 25% in patients with RAA (55 of 221; p = 0.001). Intracardiac anatomy was normal in 32% of patients with ASA/LAA and 25% with ASA/RAA. Conotruncal anomalies occurred more frequently with ASA/RAA than ASA/LAA (36% vs 18%; p = 0.01). Atrioventricular canal defects accounted for 10% and left-sided cardiac obstructive lesions accounted for 11% of subjects with ASA/LAA. ASA was rarely associated with d-transposition of the great arteries (1 of 226) and double-outlet right ventricle (5 of 226). The prevalence of ASA was highest in patients with interrupted aortic arch (11 of 38; 29%). In patients with tetralogy of Fallot, the overall prevalence of ASA was 8% (34 of 447), but was higher with RAA (16 of 103; 16%). The highest prevalence of ASA occurred in the subgroup of patients with tetralogy of Fallot with pulmonary atresia and RAA (6 of 25; 24%). In conclusion, ASA was more common in patients with RAA, especially with conotruncal anomalies. In patients with LAA, hypoplastic left heart syndrome, aortic coarctation, and atrioventricular canal defects were commonly associated with ASA.     

Facial and immunological anomalies associated with tetralogy of Fallot

Dysmorphic facial features were present in 9 of 31 children with tetralogy of Fallot anatomy (29%). These anomalies included hypertelorism, low-set ears, small mouth, short philtrum, and micrognathia. Ten children had pulmonary atresia, 13 (42%) had a right aortic arch, and 13 had extracardiac congenital anomalies. There were 16 children in the series (52%) who had hospital admissions for important or recurrent infections, and 18 who had immune deficiency: low levels of T lymphocytes were found in 9, low levels of complement in 8, and low immunoglobulins in 3. Embryologically, the cardiac outflow tracts, the aortic arch, the face, and the thymus develop at the same time, and all receive migrating cells from the neural crest. Teratogenic factors possibly produce this constellation of anomalies, which is in the spectrum of the Di George syndrome (third and fourth pharyngeal pouch syndrome). It is of importance for the management of such children, that their immune deficiency be recognized and treated appropriately.     

Clinical presentation, natural history, and outcome of patients with the absent pulmonary valve syndrome

So-called 'absent pulmonary valve syndrome' is a rare cardiac malformation, usually associated with tetralogy of Fallot. Congenital absence of the leaflets of the pulmonary valve is less common when the ventricular septum is intact. Characteristic features of the syndrome include dysplasia or absence of the pulmonary valvar leaflets, permitting severe pulmonary regurgitation, and aneurysmal dilation of the pulmonary arteries. The purpose of our study was to review our experience with patients diagnosed as having the absent pulmonary valve syndrome, and to describe their clinical presentation, natural history, and outcome. We reviewed retrospectively data from 18 patients with absent pulmonary valve syndrome, 10 boys and eight girls, treated between March 1983 and May 2003. We identified two groups of patients, one made up of 11 patients with a ventricular septal defect, in whom the morphology of the subpulmonary outflow tract was phenotypic for tetralogy of Fallot, and another group, with seven patients, having an intact ventricular septum. Family history of congenital heart disease was common only in patients with ventricular septal defect, being found in 73%, all of whom were diagnosed during infancy with variable respiratory distress. Diagnosis was delayed in 43% of the patients with an intact ventricular septum. Cardiac surgery was performed in eight patients with ventricular septal defect (73%), compared to only two patients (28%) with an intact ventricular septum. Overall mortality was 28%, with five patients dying. Although our sample was small, two clinical patterns emerged depending on the presence or absence of a ventricular septal defect. Patients with a ventricular septal defect and phenotypic features of tetralogy of Fallot have a strong family history of congenital cardiac disease, develop respiratory symptoms during infancy and exhibit a variable prognosis, despite cardiac surgery. Patients with an intact ventricular septum are usually asymptomatic, present later in life, and show a relatively benign prognosis.     

Uncorrected tetralogy of Fallot in an 86-year-old patient

This report describes the presentation and evaluation of an elderly man with uncorrected tetralogy of Fallot. The patient had remained fairly asymptomatic for much of his life. He presented to the hospital at age 86 with new-onset atrial fibrillation with rapid ventricular response and a non-ST-segment elevation myocardial infarction. Transthoracic and transesophageal echocardiography revealed infundibular pulmonic stenosis with a ventricular septal defect, overriding aorta, and right ventricular hypertrophy, findings consistent with unrepaired tetralogy of Fallot. Severe right ventricular pressure overload was also present. Coronary angiography revealed nonobstructive coronary artery disease. It was felt that the rapid atrial fibrillation resulted in right ventricular subendocardial ischemia that improved following restoration of sinus rhythm. After a systematic literature search, the authors believe this case represents the oldest reported patient with the diagnosis of uncorrected tetralogy of Fallot and serves as an example of a well-balanced congenital shunt.