Ebstein anomaly associated with retinal venular dilatation, migraine, and visual snow syndrome: a case report.

BACKGROUND: To present a case with Ebstein anomaly, a rare congenital heart disorder, with ophthalmological and neurophthalmological signs and symptoms. To date, retinal venous dilatation and visual snow syndrome have not been previously been published in this anomaly. CASE PRESENTATION: A 10-year-old white girl was diagnosed with Ebstein anomaly. From age 12, she regularly suffered from migraines with auras and photophobia. At age 16 she started to see short-term bouts of white snow, that after a year were present all day. At age 20, she was found to have a decreased retinal arteriovenous ratio. CONCLUSIONS: Retinal arterial tortuosity and venular dilatation are common in congenital heart disease but have not been described in Ebstein anomaly, nor has the visual snow syndrome.

Midline crossing pulmonary vein: right upper lobe dual venous drainage, with partial anomalous venous return of the right lung into a persistent left superior vena cava.

INTRODUCTION: We present a case of dual drainage of the right upper lobe of the lung into the left atrium and via partial anomalous venous pulmonary return (PAPVR) into a persistent left superior vena cava (SVC). DISCUSSION: It is only in the minority of PAPVR cases where the anomalous pulmonary veins cross the midline. We provide a review of current literature on this topic and an explanatory embryological model. Knowledge of embryonic development and possible anatomic variations, including the concept of dual venous drainage of the lung, leads to better interpretation of imaging, with more accurate description of the morphology at hand. High-resolution multidetector computed tomography (MDCT) helps to delineate the exact vascular anatomy. This will enhance a better understanding of and anticipation on the patient's disease status, with more accurate planning of intervention, and possibly less complications.

Platypnoea-orthodeoxia syndrome, an underdiagnosed cause of hypoxaemia: four cases and the possible underlying mechanisms.

Cardiac platypnoea-orthodeoxia syndrome (POS) is a position-dependent condition of dyspnoea and hypoxaemia due to right-to-left shunting. It often remains unrecognised in clinical practice, possibly because of its complex underlying pathophysiology. We present four consecutive patients with POS and patent foramen ovale (PFO) who underwent a successful percutaneous PFO closure, describe the mechanism of their POS and provide a review of the literature.

Evaluation of the diagnostic work-up in children with myocarditis and idiopathic dilated cardiomyopathy.

The underlying etiology of dilated cardiomyopathy (DCM) in children varies, 14-22% is secondary to myocarditis, and the majority remains idiopathic. Etiology has prognostic value; however, 'a clinical diagnosis of myocarditis' has been frequently used because the gold standard [endomyocardial biopsy (EMB)] is often not performed. Therefore, a consistent diagnostic approach and interpretation is needed. In this multicenter study, we evaluated the diagnostic approach and interpretation of the viral results in children with myocarditis and idiopathic DCM. We included 150 children with DCM, of whom 103 were assigned the diagnosis myocarditis (n = 21) or idiopathic DCM (n = 82) by the attending physician. Viral tests were performed in 97/103 patients, in only 34% (n = 35) some of the tests were positive. Of those patients, we evaluated the probability of the assigned diagnosis using the viral test results. We classified viral test results as reflecting definite or probable myocarditis in 14 children and possible or unlikely myocarditis in 21 children. Based on this classification, 23% of patients were misclassified. We found that in children with DCM, the diagnostic approach varied and the interpretation was mainly based on viral results. Since a 'clinical diagnosis of myocarditis' has been frequently used in daily practice because of the lack of EMB results, a uniform protocol is needed. We propose to use viral test results in several steps (blood PCR, serology, PCR and/or cultures of the gastro-intestinal and respiratory tract, and EMB results) to estimate the probability of myocarditis.

Two cases of aorto-right atrial tunnel: clinical presentation, imaging and percutaneous closure.

Communication between the aortic sinus and a cardiac chamber is a rare anomaly that can be diagnosed in children and young adults. We describe two cases with a tunnel between the aortic sinus and right atrium, discuss diagnostic modalities, and review the literature on this anomaly.

[Restrictive dermopathy: a rare, lethal genodermatosis]. / Restrictieve dermopathie: een zeldzame, letale genodermatose.

In a premature male infant born of consanguineous parents, restrictive dermopathy was diagnosed. This is a rarely described, lethal, congenital skin disease. The diagnosis was based on the clinical and histopathological findings: a fixed facial expression (so-called 'porcelain face') with palpebral fissures inclined laterally downwards, microstomia with the mouth in the 'O'-position, micrognathia and low-set ears inclined toward the rear, prominent blood vessels in the skin and contracture of all the joints; histopathological examination of a skin biopsy revealed a smooth epidermis and a relatively thin dermis with an abnormal structure of the dermal connective tissue in which the collagen fibres were arranged more or less horizontally, parallel to the epidermis, and the number of elastin fibres was sharply decreased. Various adnexal structures were present but the hair follicles had an abortive appearance. Thanks in part to the finding of a homozygous mutation in the so-called ZMPSTE24-gene, it could be concluded that restrictive dermopathy is probably an autosomal recessive laminopathy, related to progeria. Increasing the clinical awareness of this disease may contribute to reducing the presumed under-reporting, so that future research will become possible.

The effect of profiled hemodialysis on intradialytic hemodynamics when a proper sodium balance is applied.

BACKGROUND: Profiled hemodialysis (HD) has been claimed to ameliorate intradialytic complications such as hypotension. Frequently, these profiles are based on providing the patient with an accumulating sodium load. This increases the risk of interdialytic complications, such as hypertension and increased weight gain. The present study investigated the effect of profiled HD, without an accompanying sodium loading, on intradialytic hemodynamics in stable HD patients. METHODS: In eight stable HD patients a standard hemodialysis (S-HD) was compared to a decreasing Na(+)-profiled hemodialysis (Na-HD), and an ultrafiltration profiled hemodialysis (UF-HD). Care was taken to have the sodium balances similar during these sessions. The patients were monitored non-invasively during dialysis with respect to their cardiac performance by means of electrical impedance cardiography, their variation in blood volume by means of an on-line optical measurement, and their hydration state by means of body impedance analysis. RESULTS: Sodium balance and mean arterial sodium concentrations were similar in the three treatments. Intradialytic hemodynamics during UF-HD were similar to those of S-HD. However, Na-HD improved blood pressure preservation, remarkably without significant blood volume preservation, due to a better stroke volume preservation in the first hour of dialysis. CONCLUSION: Sodium-balanced, Na-profiled HD improves blood pressure preservation in stable HD patients without providing the patients with a sodium load. This effect is due to a better stroke volume preservation early in dialysis, without a significant reduction in blood volume decrease. UF-HD, as mono-therapy, has no beneficial effect on intradialytic hemodynamics in stable patients.

[Kernicterus in a full-term male infant a few days old]. / Kernicterus bij een aterm geboren jongen van enkele dagen oud.

A male baby born at term via an uncomplicated vaginal delivery was presented on the fourth day of life with jaundice, accompanied by neurological symptoms related to kernicterus. Despite extensive investigations, a clear cause for his hyperbilirubinaemia could not be found. After 10 days of intensive care he was left with deafness and a severe extrapyramidal motor disturbance. Recently revised practice guidelines suggest a less aggressive approach for the treatment of jaundice with phototherapy or exchange transfusion in newborns. However, in the presence of factors for kernicterus, early and, if necessary, frequent measurement of the serum bilirubin concentration remains important to prevent serious and life-long complications.

Influences of lung parenchyma density and thoracic fluid on ventilatory EIT measurements.

Ventilatory impedance changes can be measured by electrical impedance tomography (EIT). Several studies have pointed out that the ventilatory-induced impedance change measured over the lungs shows a linear relationship with tidal volume. However, EIT measures the ventilatory impedance changes relative to a reference. Therefore, changes in the reference due to lung parenchyma destruction (increase of thoracic impedance) or lung water (decrease of thoracic impedance) might influence ventilatory EIT measurements. A study was designed to evaluate the influence of the density of lung parenchyma and the thoracic fluid content on ventilatory EIT measurements. Eleven emphysema patients with a variable degree of lung parenchyma destruction, nine haemodialysis patients with general fluid overload and ten healthy subjects were measured. The impedance changes were measured with the subject in the supine position breathing a constant tidal volume of 1 litre starting at the maximum end-expiratory level. In the emphysema group a significantly lower impedance change between ins- and expiration was found in comparison with the healthy subjects (11.6 +/- 6.4 AU l-1 versus 18.6 +/- 4.2 AU l-1, p < 0.05), whereas the haemodialysis group showed a significantly larger impedance change between ins- and expiration before haemodialysis (30.5 +/- 13.1 AU l-1, p < 0.05). A significant decrease in ventilation-induced impedance change during dialysis was found (30.5 +/- 13.1 AU l-1 versus 21.4 +/- 8.6 AU l-1, p < 0.01). Furthermore, a significant correlation between lung function parameters, which indicate the severity of lung parenchyma destruction, and the measured impedance change was found in emphysema patients. From these results it can be concluded that the density of lung parenchyma and the thoracic fluid content have a serious impact on the ventilation-induced impedance change.

Intradialytic hypotension in relation to pre-existent autonomic dysfunction in hemodialysis patients.

After having monitored haemodynamics during haemodialysis, we examined autonomic nervous function in rest prior to a next dialysis session in 28 patients on chronic intermittent haemodialysis. The aim was to compare intradialytically hypotensive with stable patients to assess whether blood pressure regulating mechanisms were related to basal autonomic function, assessed as heart rate variability (HRV) tested by means of the deep breathing test, the lying-to-standing test, and the Valsalva maneuver. Impedance cardiography was used to determine stroke volume and cardiac output during dialysis. In addition, blood pressure was registered automatically and systemic vascular resistance calculated. Blood volume variation was monitored by an on-line optical device. Intradialytic hypotension was observed in 10 patients (36%). Systemic vascular resistance in hypotensive patients decreased considerably (-14.0+/-5.9%), while it increased in stable patients (+9.9+/-4.6%, p = 0.004). Heart rate rose significantly in hypotensive patients (11.5+/-3.8%) in comparison to stable patients (-0.2+/-2.8%, p = 0.02). However, no significant differences in autonomic function were observed between hypotensive and stable patients. Although both groups showed impaired autonomic function, no significant correlation between changes in haemodynamics during dialysis and autonomic function at rest could be ascertained. In conclusions, hypotension during haemodialysis is not related to a patient's autonomic function at rest. This suggests that structural neuronal differences are not responsible for the severe decrease in systemic vascular resistance in intradialytic hypotension.

Systemic vascular resistance in intradialytic hypotension determined by means of impedance cardiography.

BACKGROUND: Recurrent intradialytic hypotension still is a major source of discomfort in hemodialysis patients today, its origin being subject to extensive research. Different hypotheses have been raised to unravel this problem, without forming one coherent point of view. The aim of this study was to gain more insight into the mechanisms causing intradialytic hypotension by determining cardiovascular performance noninvasively during hemodialysis in a large group of patients. METHODS: In the present study the variations in blood volume, stroke volume, cardiac output and systemic vascular resistance were investigated in 68 patients on chronic intermittent hemodialysis utilizing bioelectrical impedance cardiography. In addition, blood volume was monitored continuously with an on-line optical device. RESULTS: Twenty-four patients experienced symptomatic hypotension during dialysis treatment. Compared to the hemodynamically stable patients, the hypotensive patients manifested a slightly greater decline in blood volume (mean +/- SEM; -9.4 +/- 1.2 vs. -6.5 +/- 0.8%, p = 0.04) and cardiac output (-11.8 +/- 4.2 vs. -7.3 +/-2.7%, p = NS). The main difference, however, was a highly significant decrease in systemic vascular resistance (-17.9 +/- 4.4%) in the hypotensive group compared to a rise in the stable group (+6.2 +/- 3.5%, p < 0.001). CONCLUSION: Intradialytic hypotension seems the consequence of an inadequate compensatory response to ultrafiltration-induced blood volume reduction, resulting in a fall in systemic vascular resistance. The degree of hypovolemia itself appears to be less important in the origin of acute, intradialytic hypotensive episodes. Noninvasive monitoring during hemodialysis provides an opportunity to gain more insight into the pathophysiology of intradialytic hypotension and offers the possibility for controlled intervention and possible prevention of this complication.

Detection of hydration status by total body bioelectrical impedance analysis (BIA) in patients on hemodialysis.

The purpose of the present study was to investigate whether total body bioelectrical impedance analysis (BIA) could be appropriate to assess normohydration (i.e. dry weight) in hemodialysis patients. This study is warranted, because the simultaneous assessment of both hydration and nutritional status by BIA requires the presence of a situation of normohydration in order to guarantee valid conclusions about the nutritional analysis. Segmental bioelectrical impedance was performed to classify patients according to their hydration status. BIA measurements revealed significant differences in TBW, ECW and ICW/ECW between three hydration subgroups (under-, normo-, and overhydration), whereas ICW was similar. Therefore, TBW, ECW and ICW/ECW appear appropriate variables to assess hydration status in patients on hemodialysis. Hemodialysis diminished ECW significantly, whereas ICW did not change, suggesting that a decrease of ECW explains the fluid loss during hemodialysis.