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.

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.

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.

[Coronary aneurysm following Kawasaki syndrome].

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.

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.

[Spontaneous occlusion of a congenital coronary artery fistula].

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.

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.

One dimensional echocardiography in univentricular hearts.

1. Echocardiography is diagnostic for univentricular hearts with two AV-valves. 2.

[Corrected transposition of the great arteries: surgical treatment of associated cardiac defects (author's transl)].

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.

[Ultrasound evaluation of heart disease, with special reference to congenital and acquired lesions (author's transl)].

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.

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 acid-base status in infants with complete transposition of the great arteries (author's transl)].

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.

[Hazards of heart catheterization and angiocardiography in the first year of life. A review of 1366 examinations].

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%.

[Genetic problems in pediatric cardiology (author's transl)].

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.