Biomedical subjects

R Oberhoffer

Publications and source records attributed to R Oberhoffer.

10 recordsLinked to original sources

PubMed1994

[Sinus node dysfunction in children without heart defect].

Sinus node dysfunction (SND) is a rare cause of bradycardia in children without structural heart disease. The clinical and diagnostic findings in 4 children with this condition are described. Two of them presented with symptoms, in one arrhythmias had been noted before birth, and a routine physical examination had revealed bradycardia in another. Age at onset of either clinical symptoms or bradycardia ranged from 0 to 11 1/2 years. Routine and 24-h-electrocardiograms showed atrioventricular junctional rhythms with minimal rates of 25/min and episodes of asystole with a maximal duration of 10.3 s. Other electrocardiographic abnormalities such as first degree atrioventricular block, ventricular extrasystoles or tachycardia were common findings. Electrophysiological studies were performed in 3 cases and confirmed the diagnosis of SND. A permanent pacemaker was inserted in 2 children; medical treatment did not have any long-term effect. During a follow-up period of 5 to 13 years there were no complications. In summary, SND in childhood can be assessed by Holter monitoring with high reliability. Electrophysiological studies are not necessary and of limited value. Therapeutic policies and prognostic statements are difficult to establish due to the small number of cases so far described. Permanent cardiac pacing, however, is unavoidable in symptomatic children.

Bradycardia↗

PubMed1993

Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: a new autosomal recessive syndrome.

We report on 2 phenotypic sisters, one with 46,XY; the other with 46,XX. The 2 girls had similar related internal malformations, including agonadism, hypoplasia of the right pulmonary artery, hypoplasia of the right lung, isolated dextrocardia with complex vitium cordis, and diaphragmatic hernia (only sib 1) or omphalocele (only sib 2). This combination of malformations did not fit into any of the previously described syndromes. For this syndrome we suggest the acronym PAGOD ([hypoplasia of the] pulmo, and pulmonary artery, agonadism, omphalocele/diaphragmatic defect, dextrocardia). The occurrence of a basically similar set of malformations in 2 unlike sex is interpreted as evidence for autosomal recessive inheritance. The different gonosomal status excludes the Y chromosome as a responsible factor. The peculiar finding of a 46,XX sex chromosome constitution combined with agonadism and an intact urogenitral tract emphasizes the concept of secondary regression of Wolffian and Müllerian structures. The associated malformations of mesodermal structures can be interpreted as midline defects. We suggest that, from the developmental field perspective, secondary regression of midline structures including the gonadal anlage explains the pathogenesis reasonably well.

Abnormalities, Multiple↗

PubMed1992

Correlation between echocardiographic and morphological investigations of lesions of the tricuspid valve diagnosed during fetal life.

OBJECTIVE: To assess the degree of agreement between the fetal echocardiographic and postmortem examination of hearts from fetuses with severe malformations of the tricuspid valve. DESIGN: A retrospective study to analyse echocardiographic recordings and make comparisons with postmortem findings. SETTING: Tertiary referral centre for fetal echocardiography. Institute for cardiac morphology. PATIENTS: 19 cases shown to have severe malformation of the tricuspid valve by fetal echocardiography that died in the prenatal or neonatal period. MAIN OUTCOME MEASURES: Correlations between morphology and measurements made at echocardiography and necropsy. RESULTS: The echocardiographic diagnosis was Ebstein's malformation in seven and tricuspid valvar dysplasia in 12 fetuses. These findings were confirmed in six and eight cases at necropsy. In one false positive diagnosis of Ebstein's malformation, necropsy showed dysplasia of the leaflets of the tricuspid valve without displacement. In four cases with the echocardiographic diagnosis of valvar dysplasia, necropsy showed displacement, the hallmark of Ebstein's malformation. Associated malformations that are known to worsen prognosis were predicted correctly by echocardiography. Taking the mean duration of four weeks between echocardiographic and postmortem investigations, both methods showed cardiomegaly causing lung hypoplasia, right atrial dilatation, and relative hypoplasia of the pulmonary trunk, morphometric factors that may be responsible for the poor outcome. Mostly good agreement existed between the echocardiographic and postmortem measurements if cases with an interval of more than eight weeks between the measurements were excluded. CONCLUSION: Fetal echocardiography was proved to be a reliable technique in differentiating the variants of tricuspid valvar disease, in diagnosing associated cardiac lesions, and in predicting quantitative factors that can define the subsequent outcome.

Ebstein Anomaly↗

PubMed1991

Pathologic spectrum of malformations of the tricuspid valve in prenatal and neonatal life.

The morphologic spectrum of malformations of the tricuspid valve in 14 fetal and 5 neonatal heart specimens is described. Echocardiography during fetal life had revealed the valvular malformations along with dilation of the right-sided chambers of the heart and atrioventricular (AV) valve incompetence. This functional impairment reflected either Ebstein's malformation (10 cases) or dysplasia of valve leaflets having a normal junctional attachment (9 cases). The right atrium and right ventricle were markedly enlarged, and heart weight was increased to 181% (median) and 179% (median) in the groups with Ebstein's malformation and valvular dysplasia, respectively. In contrast, lung weight was in the lower range of normal, showing a decrease of 67% (median) in patients with Ebstein's malformation and of 43% (median) in those with valvular dysplasia. One ventricular septal defect and six atrial septal defects were noted in each group. Severe obstruction at the level of the pulmonary valve was seen in 40% of the group with Ebstein's malformation and in 66% of those with valvular dysplasia. The most important factor in the particularly poor prognosis in these patients is the incompetence of the tricuspid valve, leading to right atrial enlargement and subsequent pulmonary hypoplasia. No significant difference was found between the pathologic features of fetal and neonatal hearts and no features that might have prompted the valve to become regurgitant during fetal life were identified.

Abnormalities, Multiple↗

PubMed1991

Gonadal agenesis in a 46,XY female with multiple malformations and positive testing for the sex-determining region of the Y chromosome.

A full-term 46,XY female newborn presented with respiratory failure due to a right-sided diaphragmatic hernia. During surgical repair, exploration revealed isolated dextrocardia and hypoplasia of the right lung. Neither gonads nor wolffian or müllerian structures could be palpated. Cardiac catheterization demonstrated defects of the ventricular septum, hypoplasia of the right pulmonary artery, persistence of the left vena cava superior and a patent ductus arteriosus. Anthropometric data were normal at birth, but fell below the 3rd percentile during follow-up. Body proportions displayed a predominance of the upper compared to the lower segment. Endocrine studies indicated no defect of steroid biosynthesis and no functional gonadal tissue. Using genetic analyses of various loci within the testis-determining region of the Y chromosome, a mutation could not be detected. The patient died from pneumonia at the age of 19 months. Postmortem examination confirmed the diagnosis of gonadal agenesis.

Abnormalities, Multiple↗

PubMed1990

[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. 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.

Aspirin↗

PubMed1989

The diameter of coronary arteries in infants and children without heart disease.

Two-dimensional echocardiographic examinations of the proximal left and right coronary artery were performed in 100 children without heart disease. Fifty-nine boys and 41 girls were studied whose ages ranged from 1 day to 17 years old. The diameter of the proximal right and left coronary artery was 1 mm in newborns and 4.5 mm in teenagers. No significant difference was observed between male and female subjects. A linear correlation between the coronary artery dimensions and the patient's age, weight, length, and body surface area could be demonstrated. The closest linear correlation corresponded to the patient's length with a correlation coefficient of r = 0.91 and r = 0.89 for the right and the left proximal coronary artery respectively. A quick orientation concerning normality of coronary artery diameters is possible with our graph of body length and corresponding coronary artery size. Knowing normal echocardiographic values for proximal coronary artery diameters, even subtle changes of these vessels can be diagnosed and the number of invasive diagnostic procedures, e.g. in Kawasaki disease, can be reduced.

Adolescent↗

PubMed1989

Diagnostic criteria of interatrial defects: a single gate pulsed Doppler echocardiographic study.

Functional closure of the oval foramen occurs during the first days of life. Nevertheless, range-gated pulsed Doppler echocardiography shows a transatrial flow pattern in many newborns. In this situation, cross-sectional echocardiography often fails in differentiating the valve-incompetent oval foramen from an atrial septal defect. In order to establish Dopplersonographic criteria for these diagnoses, we performed a prospective echocardiographic and pulsed Doppler study in 34 newborns with valve-incompetent oval foramen and in 30 children with atrial septal defect. We could not find any significant difference of flow pattern in either group, although a so-called "flap" signal could be demonstrated in 73.5% of the patients with an oval foramen, but in only 23% of the children with atrial septal defect. We suggest this feature reflects a distinct movement of the flap of oval foramen which passively follows the different interatrial pressure-flow dynamics. Nevertheless, this sign was insufficiently constant to prove presence of an oval foramen and not that specific to exclude an atrial septal defect. We conclude, therefore, that the precise nature of interatrial defects cannot be differentiated by single gate pulsed Doppler echocardiography.

Echocardiography↗

PubMed1988

[Secondary myocardial hypertrophy in newborn infants and infants without congenital heart defect].

Secondary hypertrophic cardiomyopathy (HCM) was diagnosed in 55 newborns and infants without heart disease. The 17 newborn infants of diabetic mothers, 23 infants given ACTH treatment for infantile spasms, 9 ventilated premature infants or babies with bronchopulmonary dysplasia and 6 infants with different underlying diseases comprising this group underwent 2-dimensional echocardiography. In almost all cases echocardiographic evidence of HCM resolved after removal of the exogenous or endogenous causative factor. Myocardial effects of several substances are known and their pathophysiological mechanisms are discussed. Since HCM may precede systemic disease or may often be the first pointer to a triggering agent, further diagnostic procedures are always indicated. Hence, the diagnosis of primary HCM should be made by exclusion.

Adrenocorticotropic Hormone↗

PubMed1988

[Hypoplastic left heart with transposition of the great arteries].

Hypoplastic left heart syndrome (HLHS) is a rare congenital cardiovascular malformation with a fatal outcome, despite increasing cardiosurgical therapeutic options. Experiences in three cases are reported which were diagnosed as HLHS in the uncommon combination with transposition of the great arteries (TGA). Pathophysiology, clinical features and diagnostic approaches of the "classic" HLHS and the version with TGA are compared. In contrast to the poor clinical outcome, due to impaired systemic and coronary perfusion in patients with classic HLHS, HLHS with TGA leads to reduced pulmonary perfusion, which can be relieved by aortopulmonary shunt operation. After successful operation, two patients showed normal development during the follow-up period of 18 months and 2 years resp. Because of different therapeutic and prognostic consequences in the two lesions, the necessity to determine topographic relations of great arteries in HLHS is stressed.

Angiocardiography↗