Elisabeth Mlczoch

Fetal MRI detects early alterations of brain development in Tetralogy of Fallot

OBJECTIVE Prenatal imaging has identified alterations of brain growth in fetuses with congenital heart disease. However, little is known about the timing of altered brain development and its occurrence in specific congenital heart disease subgroups. This magnetic resonance imaging study aimed to identify early (median, 25 gestational weeks [GW]) changes in fetal total brain (TBV), gray matter (GMV), and subcortical brain (SBV) volumes in Tetralogy of Fallot (TOF) cases in utero. STUDY DESIGN Fetal magnetic resonance imaging (1.5 Tesla) was performed in 24 fetuses who were diagnosed with TOF and 24 normal age-matched control fetuses (20-34 GW). TBV, GMV, SBV, intracranial cavity, cerebellar, ventricular, and external cerebrospinal fluid volumes were quantified by manual segmentation based on coronal T2-weighted sequences. Mixed model analyses of variance and t-tests were conducted to compare cases and control fetuses. RESULTS TBV was significantly lower (P < .001) in early (<25 GW) and late TOF cases. Both GMV (P = .003) and SBV (P = .001) were affected. The GMV-to-SBV ratio declined in fetuses with TOF (P = .026). Compared with normal fetuses, ventricular volume was increased (P = .0048). External cerebrospinal fluid was enlarged in relation to head size (P < .001). Intracranial cavity volume (P = .314) and cerebellar volume (P = .074) were not significantly reduced in fetuses with TOF. CONCLUSION TOF is associated with smaller volumes of gray and white matter and enlarged cerebrospinal fluid spaces. These changes are present at ≤25 GW and indicate altered fetal brain growth in this pathophysiologic entity during early stages of human brain development.

Potential of magnetic resonance for imaging the fetal heart.

Significant congenital heart disease (sCHD) affects 3.6 per 1000 births, and is often associated with extracardiac and chromosomal anomalies. Although early mortality has been substantially reduced and the rate of long-term survival has improved, sCHD is, after preterm birth, the second most frequent cause of neonatal infant death. The prenatal detection of cardiac and vascular abnormalities enables optimal parental counselling and perinatal management. Echocardiography (ECG) is the first-line examination and gold standard by which cardiac malformations are defined. However, adequate examination by an experienced healthcare provider with modern technical imaging equipment is required. In addition, maternal factors and the gestational age may lower the image quality. Fetal magnetic resonance imaging (MRI) has been implemented over the last several years and is already used in the clinical routine as a second-line approach to assess fetal abnormalities. MRI of the fetal heart is still not routinely performed. Nevertheless, fetal cardiac MRI has the potential to complement ultrasound in detecting cardiovascular malformations and extracardiac lesions. The present work reviews the potential of MRI to delineate the anatomy and pathologies of the fetal heart. This work also deals with the limitations and continuing developments designed to overcome the current problems in cardiac imaging, including fast fetal heart rates, the lack of ECG-gating, and the presence of fetal movements.

Prenatal diagnosis of giant cardiac rhabdomyoma in tuberous sclerosis complex: a new therapeutic option with everolimus.

Tuberous sclerosis complex (TSC) is a genetic disorder characterized by abnormal cell proliferation and tumor growth in a number of organ systems, primarily the brain, kidneys, eyes and heart. Clinical symptoms vary according to the location of the tumor. The most common disorders are seizures, neurodevelopmental disorders, renal failure and arrhythmias. TSC was found to be influenced by inhibitors of the protein kinase mammalian target of rapamycin (mTOR), which regulates abnormal cellular proliferation. mTOR inhibitors have been studied effectively in patients with subependymal giant‐cell astrocytomas and renal angiolipomas in the context of TSC. We describe a prenatally diagnosed case of giant rhabdomyoma, due to right ventricular outflow tract obstruction, which presented as a duct‐dependent lesion. Postnatal treatment with the mTOR inhibitor everolimus initiated significant regression of the cardiac tumor. This finding suggests that mTOR inhibitor therapy is an option for giant rhabdomyomas that develop in the neonatal period. Copyright

Structural congenital brain disease in congenital heart disease: Results from a fetal MRI program

OBJECTIVE To identify the type and incidence of fetal brain pathology in fetuses with a prenatal diagnosis of congenital heart disease (CHD). PATIENTS AND METHODS 67 pregnant women underwent a fetal MR-examinations between 20 and 38 gestational weeks. MR was done on a 1.5 T superconducting system. The type of cardiac malformation was defined by fetal echocardiography. Fetuses with a chromosomal abnormality or an extracardiac anomaly were excluded. RESULTS Fetal MRI scans in the final study cohort (53 fetuses) yielded normal results in 32 fetuses and a brain abnormality in 21 fetuses. Congenital brain disease (CBD) was found in 39% of the final study cohort of fetuses with CHD. MRI findings were classified into malformations, acquired lesions and widening of the ventricles and/or outer CSF spaces (malformations: 7 fetuses, acquired lesions: 5 fetuses, changes in CSF spaces: 9 fetuses). Asymmetry of the ventricles was the most common finding in the CSF group. CONCLUSIONS Our data suggest that fetal MRI can be used to characterize structural CBD in CHD. Advanced MRI techniques such as diffusion tensor imaging and proton spectroscopy are tools that, in the future, will certainly shed light on the spectrum of structural and functional CBDs that are associated with CHD.

No impact of endogenous prothrombotic conditions on the risk of central venous line-related thrombotic events in children: results of the KIDCAT study (KIDs with Catheter Associated Thrombosis)

Central venous lines (CVLs) are the major exogenous risk factor for deep venous thrombosis (DVT) in children. The study objective was to assess whether endogenous prothrombotic conditions contribute to the risk of CVL‐related DVT in children.

Congenital heart disease in monochorionic twins with and without twin-to-twin transfusion syndrome

This study aims to evaluate the prevalence of congenital heart disease (CHD) in monochorionic (MC) twin pregnancies with and without twin‐to‐twin transfusion syndrome (TTTS) in an unselected cohort, which underwent prenatal and postnatal echocardiography.

Radiofrequency catheter ablation can be performed with high success rates and very low complication rates in children and adolescents

Radiofrequency catheter ablation is a standard treatment for tachyarrhythmia in children. Recently, several centres using cryoenergy for ablation have reported high success and low complication rates, but an increased risk of recurrence of arrhythmia. The aim of this study was to report success, complications and recurrence rates for radiofrequency catheter ablation in children under current conditions.

NT-pro BNP in acute childhood myocarditis

To the Editor: After reading the article by Hill et al and the comment in the Science section of the New York Times, I felt humiliated and unsettled by the revelation that the professional competence of many pediatric cardiologists, at least in a specific area, fell far short of expectation. In this study approximately one-third of presumably well-trained and certified pediatric cardiologists now out in practice failed to correctly interpret abnormal electrocardiogram results obtained from children before participation in active sports. The specifics of some of the abnormal electrocardiogram results would serve as markers for potential sudden death on the athletic field. And then adding insult to injury, approximately 20% of the children whose electrocardiograms were submitted for interpretation would have been misdirected on the basis of electrocardiographic interpretation as to whether they should or should not engage in active sports. These findings are clearly an indictment of our pediatric cardiology training programs and our certification standards and furthermore question the skill and reliability of the practicing pediatric cardiologist for interpreting elecrocardiocardiograms. As a pediatric cardiologist who has worked in an academic setting for >50 years, I have noticed with dismay the diminishing interest in time on the part of our pediatric cardiology trainees in the essentials of electrocardiographic interpretation, physical examination, and auscultation, which are the bedrock of their training and, I might add, of no less importance to the practicing pediatric cardiologist. This unsettling situation has its origins in the focus on ‘‘high tech’’ to the subordination of the development of strong clinical skills. I have observed on multiple occasions a trainee or a staff pediatric cardiologist skim over a physical examination or an electrocardiogram and refer a patient for echocardiography with the implied wisdom that that is where the answers are found. To our discredit, educators and role models have failed to spark enthusiasm in the domain of mastering clinical skills, with special focus on physical examination, auscultation, and electrocardiography. Slighting clinical skills occurs with students and mature pediatric cardiologists alike, and this is reflected in a diminished quality of health care. The public respects and admires our unique expertise, and I don’t think that we are serving them well in light of our clinical shortcomings. In my view, learning the fundamentals and focusing on excellence begins in the pediatric cardiology outpatient clinic. Again to our discredit, in the mind of many trainees and their seniors fulfilling an obligation in the outpatient clinic is tantamount to a necessary evil. The educators themselves often fail to polish their clinical skills and express only a marginal interest in outpatient clinics. No wonder the trainees tend to downplay the learning

Fetal cardiac disease and fetal lung volume: an in utero MRI investigation.

Magnetic resonance imaging (MRI) is a powerful, noninvasive tool to study fetal lung volumes after 18 weeks of gestation in vivo. In neonates with congenital heart disease (CHD), proper lung function is essential for postnatal survival. Antenatal detection of abnormal pulmonary development may help to optimize prenatal and perinatal management of at‐risk fetuses. We aimed to investigate lung volumes in fetuses with prenatally diagnosed heart disease.

Special Schooling in Children with Congenital Heart Disease: A Risk Factor for Being Disadvantaged in the World of Employment

The objective of this study was to evaluate type of schooling in children with congenital heart disease (CHD) who were inpatients at a tertiary pediatric cardiology center. This retrospective cohort study included 227 consecutive children with CHD (male, 125; female, 102) who had been inpatients from 1996 to 2005. Data on type of schooling had been documented by the in-hospital teacher at the time of admission. Medical data were obtained by reviewing medical charts. The primary endpoint was the percentage of children requiring special schooling, which was related to the respective percentage in the Austrian pediatric background population. Furthermore, the influence of clinical and demographic covariables was assessed. Fifteen percent (vs. 3.6% in the background population) of the study cohort required special schooling; 86% of them had a history of cardiac surgery. Cardiopulmonary bypass surgery in the first year of life showed a trend for an association with an increased frequency of special schooling. There were no significant associations with the Aristotle Basic Score (a measure for procedure complexity in CHD), gender, or first language. In conclusion, the need for special schooling is increased in children with CHD.