Cantrell's syndrome: a challenge to the surgeon.

We present a case of partial Cantrell's syndrome with ventricular septal defect, left ventricular diverticulum, dextrorotation of the heart, an anterior diaphragmatic defect, and a midline supraumbilical abdominal wall defect with omphalocele. At the age of 20 months, the patient underwent a successful cardiac surgical procedure. To detect risk factors and to define therapeutic strategies, we analyzed the spectrum and the frequency of malformations described in 153 patients with Cantrell's syndrome. Despite modern surgical standards, Cantrell's syndrome represents a challenge to the surgeon because of the wide spectrum of anomalies, the severity of the abdominal and cardiac malformations, and the high mortality.

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.

A human autosomal XY sex reversal locus, SRA1, associated with the skeletal malformation syndrome campomelic dysplasia (CMPD1), has been placed at distal 17q. The SOX9 gene, a positional candidate from the chromosomal location and expression pattern reported for mouse Sox9, was isolated and characterized. SOX9 encodes a putative transcription factor structurally related to the testis-determining factor SRY and is expressed in many adult tissues, and in fetal testis and skeletal tissue. Inactivating mutations on one SOX9 allele identified in nontranslocation CMPD1-SRA1 cases point to haploinsufficiency for SOX9 as the cause for both campomelic dysplasia and autosomal XY sex reversal. The 17q breakpoints in three CMPD1 translocation cases map 50 kb or more from SOX9.

No evidence of mutations in four candidate genes for male sex determination/differentiation in sex-reversed XY females with campomelic dysplasia.

Campomelic dysplasia (Cd) occurs combined with sex reversal resulting in XY females. The recent identification of candidate genes for sex determination/differentiation and of a sex determining region on the human Y chromosome prompted the authors to study these genes for mutations in patients with Cd and sex reversal. In a total of five cases, no evidence for a mutation in the genes SRY, ZFY, ZFX, MEA and some anonymous Y-linked sequences was found. In addition to Southern analysis, gene expression of ZFY, ZFX and MEA was found to be normal as well. It is concluded that sex reversal in this condition is due to mutation in a so far unidentified gene which may act secondary to the testis-determining factor (TDF).

[Coronary aneurysm following Kawasaki syndrome]. / Koronaraneurysmen nach Kawasaki-Syndrom.

In 10 boys with coronary aneurysms following Kawasaki syndrome echocardiography was performed and compared to angiography with respect to its reliability in detecting coronary aneurysms. All patients had central aneurysms of the left coronary artery which were visualized by echocardiography. In contrast, only two of six central aneurysms of the right coronary artery were detected echocardiographically. None of four leftsided and five rightsided peripheral coronary aneurysms were seen by echocardiography. There was no correlation between severity of coronary lesions and the score of Asai and Kusakawa estimating the risk of aneurysms on clinical grounds. Regression of coronary aneurysms was observed in seven, persistence in two, and progression in one patient, respectively, within 7-27 months. All children are doing well without clinical evidence of myocardial ischemia. We conclude from our experience that involvement of coronary arteries is unlikely if the central parts of the left coronary artery, which can be well visualized by echocardiography, are inconspicuous. In case echocardiography suggests a coronary aneurysm we recommend angiographic investigation in order to visualize the peripheral coronary arteries.

Use of the left internal thoracic artery to correct a left main coronary atresia.

Dyspnea with a slightly enlarged heart was noticed in a five year old girl at a checkup. The cardiological investigation revealed an enlarged left ventricle with slight mitral regurgitation. The right coronary artery was enlarged and filled the entire left arterial system via collaterals. The left main coronary artery could not be detected. In addition, outflow of contrast medium into the large vessels was absent. With the diagnosis of left main coronary atresia, the left internal thoracic artery was implanted on to the proximal left anterior descendent in October 1985. In the control angiogram, the anastomosis conditions were normal, the left ventricle had decreased in size and contracted almost normally. The collaterals from the right could no longer be demonstrated. The child (now six years old) has full exercise tolerance today. In the ultrasonogram, the ventricle shows normal contraction behavior. Up to know, four cases with congenital main coronary atresia have been reported in the literature.

[Spontaneous occlusion of a congenital coronary artery fistula]. / Spontanverschluss einer angeborenen Koronararterienfistel.

Cardiac catheterisation of a 6-month-old asymptomatic infant with a continuous precordial murmur revealed a congenital coronary artery fistula draining into the right ventricle. Following a period with no complications and the disappearance of the cardiac murmur, recatheterisation at the age of 4 years showed spontaneous complete closure of the fistula. This case in connection with 3 similar cases from the literature suggests that in asymptomatic patients with a congenital coronary artery fistula surgery might be delayed until school age in order to give spontaneous closure a chance.

Longitudinal smooth muscle in pulmonary arteries. Occurrence in congenital heart disease.

In lung biopsy specimens of 19 patients with congenital heart disease and pulmonary hypertension, in addition to the common features of plexogenic arteriopathy, longitudinal smooth muscle cells were found in small pulmonary arteries. These cells were arranged in bundles or layers, particularly in the intima but sometimes within the media or adventitia of the arteries. They often caused severe narrowing of the lumen. Corrective surgery of the cardiac defect was performed in 14 patients. The results suggested that even when these changes are wide-spread and severe, they do not stand in the way of a favourable post-operative course. In one patient who underwent a banding procedure of the pulmonary artery, virtually complete regression of the smooth muscle layers could be demonstrated in a second biopsy, taken 5 years later during a corrective operation.

Aortoventriculoplasty for tunnel subaortic stenosis and other obstructions of the left ventricular outflow tract. Clinical and hemodynamic results.

A new therapeutic concept of enlarging the outflow tracts of both ventricles with a patch and inserting an aortic prosthesis has been developed for the treatment of tunnel subaortic stenosis. This operation has been applied clinically since June 1974 on several types of obstruction in the outflow tract of the left ventricle. Twenty-one operations have been performed on 20 patients under the age of 18 years, with an overall mortality of 24% and no late deaths. Seven patients developed complete right bundle branch block or left anterior hemiblock or both as a result of this operation; transient atrioventricular block and complete left bundle branch block occurred in one patient each. In no case, however, did rhythm disturbances contribute to death. In one patient, the septal incision injured a septal coronary artery, with fatal result. Fourteen patients had catheterization studies postoperatively. Although previous conventional surgery had been unsuccessful, aortoventriculoplasty (AoVPI) reduced the mean gradient across the left ventricular outflow tract significantly (p less than or equal to 0.01), from 94.7 +/- 25.5 mm Hg to 14.4 +/- 17.2 mm Hg, leaving the end-diastolic pressure practically unchanged. No significant defect remained in the patch-covered septal incision. Thus, we consider AoVPI to be the operation of choice for tunnel subaortic stenosis, for valvular aortic stenosis with a narrow annulus and in cases where an artificial aortic valve has become too small because of the patient's growth.

One dimensional echocardiography in univentricular hearts.

1. Echocardiography is diagnostic for univentricular hearts with two AV-valves. 2. Echocardiography does not substitute catheterization and angiocardiography, it is, however, apt to optimize and to supplement invasive procedures. 3. The number, the relative size, and the function of the AV-valves can be ascertained by echocardiography. 4. The relation of the great arteries may be suggested by transducer direction and position. 5. Echocardiographic measurements are indicative of relative pulmonic flow: Therefore echocardiography should be helpful in follow up studies. 6. Valvar and valvar-subvalvar pulmonic outflow obstructions may be suggested by echocardiography. 7. Septal remnants may be recognized by echocardiography. How significant their demonstration is to outlet chamber definition has still to be clarified.

[Corrected transposition of the great arteries: surgical treatment of associated cardiac defects (author's transl)]. / Korrigierte Transposition der grossen Arterien: Chirurgische Behandlung von begleitenden Herzmissbildungen.

Corrected transposition of the great arteries is often associated with other cardiac anomalies. We report our experience with the correction of the associated cardiac defects in 13 cases: ventricular septal defect with pulmonary hypertension (5 cases), ventricular septal defect with obstruction of pulmonary outflow tract (5 cases), obstruction of pulmonary outflow tract (2 cases), ostium primum defect (1 case). The possible surgical approaches for repair of the cardiac anomalies are described and the results of the operative correction are communicated. Precise diagnosis, the knowledge of the unusual disposition of the conducting tissues and new surgical approaches are prerequisite for successful correction.

[Ultrasound evaluation of heart disease, with special reference to congenital and acquired lesions (author's transl)]. / Die Ultraschall-Diagnostik des Herzens unter besonderer Berücksichtigung der angeborenen und erworbenen Vitien

Time position monitoring of numerous cardiac structures can be obtained by single element echocardiography with high time resolution. This method offers an important way to measure cardiac dimensions and to prove the anatomical relation different cardiac structures. Technological problems are briefly discussed and normal values are given. Cardiac lesions diagnosed by echocardiography are reviewed.

A subtelocentric chromosome 9 in a dysplastic 18-year-old boy with dissociated mental development.

A subtelocentric C-group chromosome was identified as inv(9) (p24q12) in an 18-year-old young man who shows few dysplastic signs and who suffers from dissociated mental development. Pericentric inversions producing an almost metacentri No. 9 have been reported in several studies. The frequency of which proved to be high. There is an apparent lack, however, of inverted acro- or subtelocentric No. 9 reported in the literature. This obvious difference in the break points on chromosome 9 is most likely due to 1. hot-spots for chromosome breakage i.e. highly susceptible regions such as the euchromatic-heterochromatic junctions. 2. a higher degree of elimination against such acro- or subtelocentric chromosomes from one generation to the other.

[The acid-base status in infants with complete transposition of the great arteries (author's transl)]. / Untersuchungen zum Säure-Basen-Haushalt bei Säuglingen mit Transposition der grossen Gefässe

In 36 infants with complete transposition of the great arteries aged one day to ten weeks, the acid-base balance was studied before, during, and after heart catheterization. The results indicate the dependency of the acid-base equilibrium on pulmonary function. Infants with only small shunts or with decreased pulmonary blood flow had a metabolic acidosis. Impairment of lung function either by high pulmonary blood flow, pulmonary congestion, or pneumonia caused mixed acidosis. Regulary found after heart catheterization and angiocardiography we found a more severe and mixeden acidosis. The therapeutic implications are briefly discussed.

[Hazards of heart catheterization and angiocardiography in the first year of life. A review of 1366 examinations]. / Das Risiko der Herzkatheterisierung und Angiokardiographie im ersten Lebensjahr. Ein Uberblick über 1366 Untersuchungen

1366 infants in the first year of life had cardiac catheterisation with or without angiocardiography in our Department of Cardiology between 1963 and 1973. The overally mortality in the first 24 hrs after the cardiac catheterisation for the first year of life was 1.83%. The subdivision of the first month of life reveals the high mortality rate of the first two weeks of life with the highest percentage of 18.9% in the first week of life and with 10.7% in the second week of life. After that time the mortality is significantly decreasing, but still amounts to 7.6% in the first month of life. There had been no death after the seventh month of life. 14 of the 24 infants died without a specific event in increasing heartfailure and/or acidosis. In the other 10 cases death was due either to the manipulation of the catheter (partial-perforation or perforation), to the angiocardiogram (subsequent asystole) or to the position of the catheter with subsequent intramural injection of contrast material.The best correlation was between the mortality and the severity of the underlying cardiac malformation. Further complications which did lead to death 24 hrs following cardiac catheterisation are described. Our results are compared with those of other authors. The reasons of various complications are discussed. Cardiac catheterisation and angiocardiography as early as possible is necessary because palliative procedures and corrective surgery can be initiated immediately. But it is important in the very sick infant to shorten the procedure as much as possible and to keep angiographic injections at a minimum.

[Genetic problems in pediatric cardiology (author's transl)]. / Humangenetische Probleme in der Kinderkardiologie

The genetic background of cardiovascular malformations is discussed. Congenital heart disease may occur as a consequence of chromosomal anomalies and of single Mendelian gene defects, respectively. However, in the vast majority of cases, the hypothesis of multifactorial inheritance is the most plausible one. The rules of genetic counselling, which plays an increasingly important role in pediatric cardiology, are briefly outlined. In those cases which fit the multifactorial inheritance hypothesis, counselling depends on empiric recurrence risks.