Duplication 11q and deletion 5p syndromes due to a reciprocal translocation segregating in four generations.

We report on 2 relatives with duplication 11q and deletion 5p, resulting from an adjacent-1 segregation of a balanced reciprocal translocation 5p15;11q23, segregating in 4 generations of this family. Twelve out of 16 at-risk relatives of inheriting the translocation were shown to be carriers, giving a significant (p less than .05) 3:1 ratio of carriers/noncarriers. The breakpoint on chromosome 11 at q23 is a folate sensitive fragile site into where the proto-oncogene c-ets has been mapped.

[Double outlet right ventricle with discordant atrioventricular connection. Clinical study]. / Doble cámara de salida del ventrículo derecho con conexión atrioventricular discordante. Estudio clínico.

The clinical and anatomic findings were reviewed in 17 patients with double-outlet right ventricle and atrioventricular discordance. Ten cases had atrial situs solitus, seven with right-sided heart three with left-sided heart. Seven cases had atrial situs inversus, five with left-sided heart and two with right-sided heart. All cases presented ventricular septal defect, 13 subvalvar pulmonary stenosis, two tricuspid regurgitation and two complete atrioventricular block. The spatial relationship between the arterial valves are variable. Most cases in atrial situs solitus had a left-sided and anterior aorta and all patients in atrial situs inversus had a right-sided and anterior aorta. In this study we compared the anomalies found in our cases with double outlet right ventricle with those in 58 patients with corrected transposition. Absolute, relative and attributable risks were calculated for the presence of subvalvular pulmonary stenosis, ventricular septal defect, tricuspid regurgitation and atrioventricular block for each the two groups. We concluded that patients with double-outlet right ventricle are more prone to present ventricular septal defect and subvalvar pulmonary stenosis, while those with corrected transposition have a greater likelihood of presenting with tricuspid regurgitation and atrioventricular block. There is no typical clinical picture for the malformations. Symptoms depend upon the associated anomalies. The final diagnosis is best achieved by the echocardiographic and angiocardiographic studies, but electrocardiogram and chest radiograph may suggest the presence of a discordant atrioventricular connection.

[Anomalies of the urinary tract associated with congenital heart diseases]. / Anomalías del aparato urinario asociadas a cardiopatías congenítas.

Due to the frequent association of congenital heart disease and urinary tract malformations we studied 434 patients undergoing angiocardiograms for diagnosis of their congenital heart disease. In every patient a plain abdominal X-ray film was made in order to observe urinary elimination of the contrast material. We found 70 patients with urinary tract malformations, the most frequent of which was pyelo-chaliceal dilatation, accounting for 47.1% of all the malformations found. A double pyelo-chaliceal system was found in 25.7%, kidney hypoplasia in 10% and in lower frequencies double urethers, kidney agenesia, pelvic kidneys, horseshoe-shaped kidney and others. Patients were usually urologically asymptomatic. In view of the frequent association of congenital heart disease and urinary tract malformations a plain abdominal X-ray film should always be performed postangiographically. In some cases a contrast urography is recommended.

[Tetralogy of Fallot associated with supravalvular mitral membrane]. / Tetralogía de Fallot asociada a membrana supravalvular mitral.

Two children with tetralogy of Fallot and supravalvular mitral membrane are reported. In both, the diagnosis was established before surgery. In the first case, clinical data suggested the associated mitral lesion and a two-dimensional echocardiogram demonstrated a supravalvular membrane. In the second patient, mitral obstruction was diagnosed by Doppler echocardiography and the supravalvular membrane was visualized by means of the angiographic study. Despite the rare association of both malformation, the importance of its clinical recognition is mainly related to the surgical correction of both lesions.

Congenitally corrected transposition with mirror-image atrial arrangement.

Congenitally corrected transposition (discordant atrioventricular and ventriculoarterial connexions) with mirror-image atrial arrangement is much less frequent than the same chamber combinations in the setting of usual atrial arrangement. This scarcity of cases has made their analysis difficult. In this study we have compared the anomalies found in 19 patients with congenitally corrected transposition in mirror-image arrangement with those in 39 patients having usual atrial arrangement. Absolute, relative and attributable risks were calculated for the presence of subvalvar pulmonary stenosis, ventricular septal defect, tricuspid regurgitation, atrioventricular block or the absence of these anomalies for each of the two groups. A greater absolute risk was found for both subvalvar pulmonary stenosis (68.4 vs. 43.6%, respectively) and ventricular septal defect (63.2 vs. 58.9%, respectively). The absolute risk for tricuspid regurgitation was 25.6% in those with usual arrangement as against 21.1% in those with mirror-image arrangement. Atrioventricular block was also more frequent in those with usual arrangement (25.6 vs. 10.5%) as was absence of associated cardiac defects (17.9 vs. 10.5%, respectively). The relative risks were greater for subvalvar pulmonary stenosis and ventricular septal defect in the patients with mirror-image as opposed to usual atrial arrangement (1.57: 1.00 and 1.07: 1.00, respectively), contrasting with greater relative risk for tricuspid regurgitation (1.26: 1.00), atrioventricular block (2.43: 1.00) and absence of associated anomalies (1.70: 1.00) in the patients with usual arrangement. The attributable risk for subvalvar pulmonary stenosis was estimated to be 24.8% and ventricular septal defect 4.3% for those having mirror-image atrial arrangement.(ABSTRACT TRUNCATED AT 250 WORDS)

Surgical results in subaortic stenosis.

Since 1965, 46 patients aged 4 to 42 years, underwent cardiac surgery for subaortic stenosis. Resection of the subvalvar obstruction without myomectomy was performed in all cases. Three patients died during the operation, another one after 6 months due to infective endocarditis and one more suddenly 11 years after treatment. One patient was lost to follow-up but 41 were available after at least 1 year of follow-up. Before surgery, 21 cases were in NYHA class I, 17 in class II and 8 in class III. One year after surgery 36 were in class I, 4 in class II and only one in class III. Actuarial survival rate was 91% from 1 to 12 years and 79% from 13 to 18 years. Event-free survival was 45% up to 18 years. The mean preoperative peak systolic gradient was 93.15 +/- 35.57 mm Hg. The first postoperative peak systolic gradient was 21.61 +/- 17.91 mm Hg (P = 0.001). Cases with adverse postoperative events such as aortic regurgitation (13 cases), restenosis (13 cases), death (2 cases) and infective endocarditis (2 cases) had a mean peak systolic gradient of 55.78 +/- 35.97 mm Hg, while in the event-free patients the gradient was 14.61 +/- 13.34 mm Hg (P = 0.001). Recurrent obstruction was observed in seven patients and an increase in the residual gradient in six. The initial mean postoperative peak systolic gradient in these patients had been 18.23 +/- 17.32 mm Hg and the second postoperative cardiac catheterisation showed a mean gradient of 59.23 +/- 37.78 mm Hg (P = 0.001). We conclude that long-term follow-up following removal of subaortic stenosis is mandatory in order to detect and treat adverse events.

Late results of mitral valve replacement with the Björk-Shiley prosthesis in children under 16 years of age.

The late results of isolated mitral valve replacement were evaluated in 37 children under 16 years of age receiving a Björk-Shiley prosthesis for the treatment of rheumatic mitral lesions. Three patients died, one during the operation and the others 2 months postoperatively. Of the latter two, one had a cerebral hemorrhage and the second had septicemia. The survivors were followed up for a mean of 4.7 years (range 2.8 to 8.9 years). After the operation, all patients were placed on a strict anticoagulant regimen with acenocoumarol. The actuarial survival rate was 92% at the end of the follow-up period. Before valve replacement two patients were in New York Heart Association Class I, 15 in Class II, 18 in Class III, and two in Class IV. After treatment 33 were in Class I and one in Class II. No instances of thromboembolism or infective endocarditis were observed in the survivors. Twenty-one patients underwent cardiac catheterization 2 to 7 years after the operation for evaluation of surgical results. The mean pulmonary artery systolic pressure decreased significantly after operation (p = 0.001), and the mean pulmonary artery wedge pressure decreased to normal values (p = 0.001). A mild mean diastolic gradient across the mitral valve at rest was found after the operation (4.9 +/- 2.4 mm Hg). During isometric exercise this gradient increased to 6.5 +/- 4.6 mm Hg. In two patients a discrete paravalvular leak was demonstrated by cineangiography, but the pulmonary wedge pressure was normal in both. The overall results with the Björk-Shiley prosthesis are encouraging in patients in whom reconstructive operations cannot be performed.

[Malposition of the great arteries. Is this term a valid one?]. / Malposición de las grandes arterias. Es válida esta denominación?

We present four cases of a congenital heart malformation classically known as malposition of the great arteries. This term means there are concordant ventriculo-arterial connections with abnormal spatial relations of the aortic and the pulmonary arteries, in which the former is anterior relative to the latter, and either to the right or to the left, according to the position of the corresponding ventricle. This anomaly can be found in any type of atrial situs, notwithstanding the type or mode of atrioventricular connection, as in the cases we studied. If we consider that this anomaly depends on the associated lesions in order to produce physiological heart alterations, we think that the term of malposition of the great arteries is not valid, since in the anatomic diagnosis of congenital heart disease it is important to consider the connections between atria, ventricles and arteries, the spatial relations between them being of second importance.

[Double inlet left ventricle]. / Doble entrada al ventrículo izquierdo.

Twenty-five cases of double-inlet left ventricle, 23 in atrial situs solitus and 2 with dextroisomerism are described. Twenty had both atrioventricular valves and in 3 a common atrioventricular valve connected to the left ventricle. In rest, the left atrioventricular valve was straddling over the left-sided right ventricle in about 15%. The position of the rudimentary right ventricle varied from superior, anterior and to the right of left ventricle (6 with transposition and 9 with concordant ventriculo arterial connection), to superior anterior and to the left of left ventricle (10 cases, all with transposition). Five cases had stenosis of the left atrioventricular valve and 2 stenosis of the right one. In 11, the clinical presentation was dominated by cyanosis, reduced pulmonary blood flow and right to left shunt. The rest had cyanosis and congestive heart failure. Five patients with right ventricle on the left had complete atrioventricular block, 9 right AQRS orientation and all of them findings of left ventricle hypertrophy. Three cases showed initial Q wave in VI and one left bundle branch block. Cases with right ventricle on the right, had left QRS orientation, left ventricle hypertrophy and 2 complete atrioventricular block. Cross-sectional echoes showed in 13, two atrioventricular valves committed to the left ventricle; in 3 of them the right ventricle was visualized. In 22 cases angiography determined the type of atrioventricular connection. Double inlet left ventricle is one of the most challenging diagnosis in congenital heart disease. Considering its lack of clinical specificity and according to our results, the electrocardiogram, echocardiogram and angiographic findings are of great help for its identification.

The clinical features and diagnosis of a discordant atrioventricular connexion.

Seventy-three patients were studied with a discordant atrioventricular connexion (ages 3 months to 46 years). In 58 the diagnosis was proved by angiography and in the other 15 at necropsy. Forty-eight had usual atrial arrangement and 25 mirror-image atria. Fifty-two patients had ventriculo-arterial discordance, 13 double outlet right ventricle, 4 ventriculoarterial concordance, 3 single outlet of the heart and 1 double outlet left ventricle. Nine with ventriculoarterial discordance had no other associated defects. The spatial relationship of the ventricles was variable, but in usual atrial arrangement the morphologically left ventricle tended to be on the right, and in mirror-image arrangement to the left of the morphologically right ventricle. The spatial relationship between the arterial valves was also variable, but in ventriculoarterial discordance and double outlet right ventricle the aortic valve was anterior and either to the right or left of the pulmonary valve in all but 3 cases. There is no typical clinical picture for these malformations. Symptoms depend upon the associated anomalies or the presence of atrioventricular dissociation. The diagnosis of a discordant atrioventricular connexion is best achieved by the echocardiographic and haemodynamic studies, but the electrocardiogram, chest radiograph and nuclear medicine studies may suggest its presence. Most patients are asymptomatic and progress normally to adult life. Only the symptomatic patients require surgical correction. Postoperative follow-up in the survivors is excellent, only 2 of 14 patients dying after surgery.

[Aortic atresia. Presentation of 7 cases]. / Atresia aórtica. Presentación de 7 casos.

The clinical and anatomic findings of 7 patients with aortic atresia were studied. All cases had usual atrial arrangement, atrioventricular and ventriculoarterial concordance. All but one had an intact ventricular septum. All cases presented a hypoplastic left ventricle, and in one, a mitral atresia was found. The clinical diagnosis was made by means of cardiac catheterization and angiocardiography. The presence of a patent ductus arteriosus, the size of the atrial and ventricular septal defects, the diameter of the ascending aorta, pulmonary vascular resistances and right ventricular function are all factors that influence the survival in the patients with aortic atresia.

[Anti-rubella IgM and IgG antibodies in congenital cardiopathy]. / Anticuerpos IgM e IgG antirubéola en cardiopatía congénita.

In utero infection by rubella virus is a well known cause of congenital heart disease. We look for prevalence of anti-rubella antibodies of IgM (primary response) or IgG (anamnestic response) classes in sera of 32 children with congenital heart disease and in 12 normal children of the same socioeconomic background. Only in a patient with a full congenital rubella syndrome we found high titers of IgG anti-rubella antibodies, there was no difference in prevalence of IgM nor IgG anti-rubella antibodies between normals and cardiac patients. There is no reason to look for anti-rubella antibodies in the isolated congenital heart disease.

[Corrected transposition of great arteries. Surgical results]. / Transposición corregida de las grandes arterias. Resultado quirúrgico.

Thirteen patients with congenitally corrected transposition of the great arteries underwent cardiac surgery between May 1964 and May 1984. Eleven cases underwent corrective surgery and two palliative treatment. Four cases had closure of the ventricular septal defect two had pulmonary valvotomy, two closure of atrial septal defect and three tricuspid valve replacement. Two patients developed atrioventricular dissociation, requiring pacemaker insertion. Two patients died, one in the immediate postoperative period in pulmonary edema, and another due to bacterial endocarditis 3 years after surgery. Our observations suggest that surgical treatment of corrected transposition can be achieved with acceptable risks. The long-term follow up in the survivors was excellent.

[Double-outlet left ventricle]. / Doble camara de salida del ventriculo izquierdo.

Two cases of double-outlet left ventricle with ventricular septal defects and pulmonic stenosis are described. Both had atrial situs solitus, one with concordant and another with discordant atrioventricular connections. Considering the clinical behaviour of the malformation, the diagnosis is difficult. Although the echocardiographic findings suggest the abnormality, angiocardiography is the best procedure for the accurate diagnosis.

[Infectious endocarditis in children]. / La endocarditis infecciosa en el niño.

he recent advances in surgical treatment of congenital heart disease, permits the survival of those cases to adult life. Infective endocarditis in the childhood is becoming increasingly important. We studied 32 cases in the pediatric cardiology ward at the INC between 1977 and 1981. There was a male predominance of 62.5%. Rheumatic heart disease (40.7%), congenital heart disease (15.6%) and postoperative cases (43.7%) were the underlying conditions. There was an average time of 43 days delay from the first symptom to diagnosis. Blood cultures were taken in 29 cases (90.6%). Only half of them were positive. Staphylococcus and streptococcus were the commonest isolates. Peripheral and pulmonary embolism (11 cases-34.4%) were the most frequent complications. In those cases with negative blood culture the most successful antibiotic combination was ampicillin or oxacillin plus aminoglucosides (56%). There were 17 deaths (53%).

Resultado quirúrgico en algunas formas de discordancia atrioventricular / Surgical result in various forms of atrioventricular discordance

Trece pacientes portadores de distintas formas de discordancia atrioventricular (DAV) fueron tratadas quirurgicamente en un periodo comprendido entre mayo de 1964 y junio de 1982. Once eran portadores de transposicion corregida (discordancia ventriculoarterial) y uno tenia doble camara de salida del ventriculo derecho y otro concordancia ventriculoarterial. En seis casos fue cerrada la comunicacion interventricular, dos sufrieron valvulotomia pulmonar, dos cierre directo del defecto septal interatrial, dos reemplazo de la valvula tricuspide y uno, con doble salida del ventriculo derecho,insercion de un tubo valvado entre el ventriculo izquierdo y el tronco de la arteria pulmonar. Un enfermo con discordancia y otro con concordancia ventriculoarterial fueron tratados con fistula sistemico-pulmonar.Un solo paciente desarrollo bloqueo atrioventricular completo en el postoperatorio. Un enfermo murio en el postoperatorio inmediato a consecuencia de un edema agudo pulmonar.Nuestros resultados sugieren que el tratamiento quirurgico de las DAV se hace con riesgo aceptable

La endocarditis infecciosa en el nino / Infective endocarditis in childhood

La endocarditis infecciosa en los ninos cobra importancia puesto que los avances en la cirugia de las cardiopatias congenitas aumenta el numero de casos que sobrevivem. En 32 casos atendidos en el servicio de Cardiologia Pediatrica del Instituto Nacional de Cardiologia Ignacio Chavez de Mexico, entre 1977 y 1981, encontramos una predominancia del sexo masculino del 62.5%. La infeccion de implanto en lesiones reumaticas en el 40.7% de los casos en lesiones congenitas en el 15.6% y en el postoperatorio en el 43.7%. La dilacion en el diagnostico alcanzo un promedio de 43 dias y el factor precipitante se identifico en el 41%. Se practicaron hemocultivos en 29 pacientes (90.6%) y en 3 (9.4%) no se sospecho el diagnostico. Fueron positivos en la mitad de los casos y predominaron los estreptococos y estafilococos.Existieron complicaciones emboligenas perifericas y pulmonares en 11 casos (34.4%) En aquellos con hemocultivo negativo la combinacion de antibioticos que obtuvo la mejor respuesta fue la de ampicilina o dicloxacilina con aminoglucosidos (56%). Fallecieron 17 enfermos (53%)

Transposicion corregida de las grandes arterias. Resultado quirurgico. / Repaired transposition of the great arteries. Surgical results

Trece pacientes portadores de transposicion corregida de las grandes arterias (TCGA) fueron tratados quirurgicamente en un periodo comprendido entre mayo de 1964 y mayo de 1984. En dos de ellos, se practico cirugia paliativa y en los demas cirugia correctiva. En cuatro casos fue cerrada la comunicacion interventricular, dos sufrieron valvulotomia pulmonar, dos cierre directo del defecto septal interatrial y tres reemplazo de la valvula tricuspide.Dos pacientes desarrollaron bloqueo atrioventricular completo en el postoperatorio.Un enfermo murio en el postoperatorio inmediato a consecuencia de un edema agudo pulmonar. Otro fallecio por endocarditis infecciosa 3 anos despues de la cirugia.Nuestros resultados sugieren que el tratamiento quirurgico de la transposicion corregida de las grandes arterias se hace con riesgo aceptable. El resultado a largo plazo es excelente