First Real-Life Data on the Diving Response in Healthy Children.

Swimming and diving are popular recreational activities, representing an effective option in maintaining and improving cardiovascular fitness in healthy people. To date, only little is known about the cardiovascular adaption to submersion in children. This study was conducted to improve an understanding thereof. We used a stepwise apnea protocol with apnea at rest, apnea with facial immersion, and at last apnea during whole body submersion. Continuous measurement of heart rate, oxygen saturation, and peripheral resistance index was done. Physiologic data and analysis of influencing factors on heart rate, oxygen saturation, and peripheral vascular tone response are reported. The current study presents the first data of physiologic diving response in children. Data showed that facial or whole body submersion leads to a major drop in heart rate, and increase of peripheral resistance, while the oxygen saturation seems to be unaffected by static apnea in most children, with apnea times of up to 75 s without change in oxygen saturation.

Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.

The non-POU domain-containing octamer-binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X-linked syndromic disorder. Through our in-house diagnostics and subsequent matchmaking, we identified six unrelated male individuals with pathogenic or likely pathogenic NONO variants. For a detailed comparison, we reviewed all published characterizations of the NONO-associated disorder. The combined cohort consists of 16 live-born males showing developmental delay, corpus callosum anomalies, non-compaction cardiomyopathy and relative macrocephaly as leading symptoms. Seven prenatal literature cases were characterized by cardiac malformations. In this study, we extend the phenotypic spectrum through two more cases with epilepsy as well as two more cases with hematologic anomalies. By RNA expression analysis and structural modeling of a new in-frame splice deletion, we reinforce loss-of-function as the pathomechanism for the NONO-associated syndromic disorder.

Evaluation of Clinical Course and Maintenance Drug Treatment of Supraventricular Tachycardia in Children During the First Years of Life. A Cohort Study from Eastern Germany.

Supraventricular tachycardia (SVT) is considered the most common cause of arrhythmia in children and infants. Regarding the likelihood of a spontaneous resolution of SVTs during the first years of life, drug treatment aims to bridge the time until children 'grow out' out of the arrhythmia. The choice of antiarrhythmic agents and the planning of maintenance therapy are mainly based on clinical experience and retrospective single- and multi-institutional analyses and databases from all over the world approaching differently to this topic. The current study aimed to evaluate the clinical course, pharmacological treatment strategies, and constellations of risk for recurrences in the management of SVTs in children aged 3 < years. The database of the Heart Center Leipzig, Department of Pediatric cardiology, was searched for pediatric patients aged < 3 years with a clinically documented SVT between 2000 and 2019 that received pharmacologic treatment. Patients with complex congenital heart disease or arrhythmias following cardiac surgery were excluded. 69 patients were included. Pharmacologic treatment, follow-up schedule, recurrences, outcomes, and risk factors for complicated courses are reported. Drug therapy of SVTs in young children remains a controversial topic with heterogeneous treatment and follow-up strategies applied. Risk factors for recurrences and/or stubborn clinical courses are difficult rhythm control with 3 or more antiarrhythmic drugs, ectopic atrial tachycardias, and a first occurrence of the SVT in the fetal period. Prospective studies are needed to sufficiently evaluate optimal treatment strategies.

[Therapy and Outcome of Neonates with Congenital Diaphragmatic Hernia and Congenital Heart Defects]. / Therapie und Outcome von Neugeborenen mit kongenitaler Zwerchfellhernie und angeborenen Herzfehlern.

Die Mortalität von Patienten mit isoliert auftretenden angeborenen Zwerchfellhernien liegt in spezialisierten Zentren bei 20-40%. Wesentliche, das Outcome beeinflussende Faktoren, sind die bestehende Lungenhypoplasie, eine daraus resultierende pulmonale Hypertonie, sowie das Vorliegen weiterer Fehlbildungen. Begleitfehlbildungen wie angeborene Herzfehler treten bei ca. 18% aller Neonaten mit Zwerchfellhernie auf. Schwere angeborene Herzfehler wie das hypoplastische Linksherz Syndrom zeigen sich in ca. 8% der Fälle. In einer retrospektiven Analyse des Patientenkollektivs unserer Klinik zwischen 01/2012 und 12/2018 wurde das prä- und postnatale Management, sowie das Outcome von Neugeborenen mit der Kombination aus angeborenen Herzfehlern und Zwerchfellhernien untersucht. Im Studienzeitraum wurden in unserer Klinik 156 Neugeborene mit Zwerchfellhernie behandelt. Bei 10 Patienten (6,4%) lag zusätzlich ein schwerer, bei 11 Patienten (7,1%) ein moderater Herzfehler vor. 6/21 Patienten verstarben im Verlauf des Krankenhausaufenthaltes, davon 3 am ersten Lebenstag. Es zeigte sich eine deutlich geringere Mortalität bei Patienten mit Zwerchfellhernie und moderatem Herzfehler im Vergleich zu schwerem Herzfehler (9 vs. 50%). Besonders hoch lag die Mortalität bei Kindern mit einem univentrikulären Herzen. Trotz einer deutlich reduzierten Prognose bei der Kombination aus angeborenem Herzfehler und Zwerchfellhernie muss nicht generell mit einer infausten Prognose gerechnet werden. In spezialisierten Zentren kann ein kurativer Ansatz erfolgen.The mortality of patients with isolated congenital diaphragmatic hernia (CDH) in specialized centers is 20-40%. The main factors influencing the outcome are the underlying pulmonary hypoplasia, the resulting pulmonary hypertension and the presence of other malformations. Concomitant malformations such as congenital heart defects occur in around 18% of all neonates with a diaphragmatic hernia. Serious congenital heart defects such as hypoplastic left heart syndrome occur in approximately 8% of cases. In a retrospective analysis of the patient collective of our hospital between 01/2012 and 12/2018, the prenatal and postnatal management as well as the outcome of newborns with a combination of congenital heart defects and diaphragmatic hernias were examined. During the study period, 156 newborns with diaphragmatic hernias were treated at our institution. In 10 patients (6.4%) there was also a severe, and in 11 patients (7.1%) a moderate heart defect. 6/21 patients died during their hospital stay, 3 of them on the first day of life. There was a significantly lower mortality in patients with diaphragmatic hernia and moderate heart defects compared to severe heart defects (9 vs. 50%). The mortality in children with a univentricular heart was particularly high. Despite a significantly reduced prognosis for the combination of congenital heart defects and diaphragmatic hernia, generally a poor prognosis does not have to be expected. A curative approach can be achieved in specialized centers.

Simulation in Neonatal Echocardiography.

There is a growing interest in neonatologists to train in echocardiography. Recommendations for training have been published by medical societies and working groups, but concerns exist on their feasibility in the face of limited resources. Simulators are increasingly used for training in medicine, including echocardiography. They have the potential to help overcome the shortage of training opportunities. We describe the currently available 2 echocardiography simulators designed for neonatology. Both systems are based on real 3-dimensional echocardiographic data and use an electromagnetic tracking system. Although limited data exist proving their effectiveness, deduction from other disciplines support this assumption.

Adult congenital open-heart surgery: emergence of a new mortality score.

OBJECTIVES: In revised 2018 American Heart Association/American College of Cardiology guideline for the management of adults with congenital heart disease (ACHD), the committee introduced a classification that combines lesion anatomy and physiological status: ACHD anatomic physiological (AP) classification. Anatomy is described as of simple (I), moderate (II) or great (III) complexity, whereas physiology is listed in 4 categories of increasing severity (A, B, C and D). Can this classification predict early postoperative mortality? METHODS: ACHD AP classification was determined for 339 adults who underwent open-heart surgery between September 2012 and August 2018. In addition, the adult congenital heart surgery (ACHS) and Society of Thoracic Surgery-European Association for Cardio-Thoracic Surgery (STAT) mortality scores were calculated. A model based on binary logistic regression was applied. The event was early postoperative death. Mortality scores were estimated for each ACHD AP class. RESULTS: All patients could be categorized by the ACHD AP classification. The 354 procedures were performed with an early mortality of 3.4% (12/354). The mortality risk for the new mortality score, simply called ACAP score, ranged from 0.2% (95% confidence interval 0.08-0.41%) for ACHD AP class IA to 20% (16.04-24.64%) for IIID class. Observed over expected ratios of early mortality amounted to 0.87, 1.54 and 1.14, whereas areas under the curve of receiver operator characteristic were found to be 0.78, 0.64 and 0.88 for STAT, ACHS and ACAP scores, respectively. CONCLUSIONS: ACHD AP classification could embrace all procedures. In our setting, the ACAP score was more predictive of early mortality than the ACHS and STAT mortality scores. It should be validated by further studies and other centres.

Large nonapical right ventricular diverticulum in a patient with atrioventricular septal defect.

Congenital diveticula and aneurysm of the heart are rare and most often located at the apex of the left ventricle. They pose a significant risk for cardiac failure and arrhythmias. In contrast, nonapical diverticula of the right ventricle (RV) have a much more benign course. We present a child with Trisomy 21, atrioventricular septal defect, and large nonapical diverticulum of the RV that was neither addressed during surgery nor needed any medical treatment during 1-year follow-up.

The blue child - amiodarone-induced blue-gray skin syndrome and pulmonary mass in a child.

Adverse effects of amiodarone are rarely seen in pediatric patients, but may occur if amiodarone is applied for long-term treatment. Two rather rare phenomena are blue-gray skin pigmentation and pulmonary mass. They represent important differential diagnoses from more common clinical complications like pneumonia and drug-induced toxic skin lesions.

Oral Everolimus for Treatment of a Giant Left Ventricular Rhabdomyoma in a Neonate-Rapid Tumor Regression Documented by Real Time 3D Echocardiography.

The presented case reports on successful treatment with everolimus in a neonate with left ventricular giant rhabdomyoma. The authors used a different dosage regime compared to literature and documented rapid tumor regression by 3D echocardiography.

Effectiveness of simulator-based echocardiography training of noncardiologists in congenital heart diseases.

BACKGROUND: Congenital heart diseases (CHD) are responsible for substantial morbidity and mortality in neonates. The preliminary diagnosis often is made by noncardiologists. For this reason, there is a huge demand of training in echocardiography of CHD. This is difficult to achieve due to limited resources of specialized centers. OBJECTIVE: The goal of this study was to investigate the training effect of the echocardiography simulator EchoCom on trainee's ability to diagnose CHD. DESIGN/METHODS: We enrolled 10 residents for simulator-based training in echocardiography of CHD. All participants were instructed on the simulator's basic handling and had one hour to scan the first 9 datasets information (ventricular septal defect, atrial septal defect, atrioventricular septal defect, Tetralogy of Fallot, transposition of great arteries, congenital corrected transposition of great arteries, common arterial trunk, hypoplastic left heart syndrome, normal anatomy) and establish a diagnosis. No help was given except for support regarding simulator related issues. Afterward, 2 rounds of structured simulator based echocardiography training focused on echocardiographic anatomy, spatial orientation, standard views, and echocardiographic anatomy of different CHD followed. All participants completed a standardized questionnaire containing 10 multiple-choice (MC) questions focusing on basic theoretical knowledge in echocardiographic anatomy and common CHD. RESULTS: Almost all of the residents invited from the affiliated children's hospital had little (20%) or no experience (80%) in echocardiography of CHD. Their Pretest and Posttest scores showed significant improvement for both, MC test and performance test, respectively. CONCLUSIONS: Our study showed that simulator-based training in echocardiography in CHD could be very effective and may assist with training outside the scope of CHD.

Echocardiographic detection of coronary air embolism as the cause of cardiac arrest in a neonate with transposition of the great arteries.

A hemodynamically stable neonate with transposition of the great arteries suddenly went into cardiac arrest during preparation for transport to the operating room. Emergency echocardiography during cardiac massage detected coronary air embolism as the presumed cause of arrest. After about 15 minutes of resuscitation, it was possible to establish return of spontaneous circulation. Since the most likely source of air was the neonate's peripheral venous line, we have introduced inline microfilters for all neonates and all patients with right-to-left shunt lesions and did not encounter proven air embolism thereafter.

Interruption of the ascending aorta: a hitherto undescribed lesion.

We are describing a most unusual variant of aortic arch interruption. The ascending aorta was atretic above the sinutubular junction forming a blind-ending pouch. The coronary arteries were the only vessels arising from the aortic trunk. All the brachiocephalic vessels were perfused in retrograde fashion through the arterial duct. The aortic valve itself was dysplastic, stenotic, and permitted severe regurgitation. There was no subaortic obstruction. A modified first stage Norwood palliation was performed. Due to myocardial insufficiency transthoracic extracorporeal membrane oxygenation had to be commenced at the end of surgery. Unfortunately the child died due to severe intracranial hemorrhage.

Giant cell myocarditis mimicking idiopathic fascicular ventricular tachycardia.

We report an adolescent with giant cell myocarditis (GCM) mimicking tachycardia-induced cardiomyopathy. His electrocardiogram (ECG) was typical for an incessant form of fascicular ventricular tachycardia. The patient rapidly deteriorated and required support using extracorporeal membrane oxygenation (ECMO). Biopsy revealed GCM with massive myocyte necrosis. He was successfully heart transplanted 6 days after admission.

Intracardiac thrombus causing systemic embolism in a child with idiopathic ventricular tachycardia and heterozygous activated protein C resistance.

Systemic embolism in childhood is rare but often disastrous. Most often the concomitant occurrence of more than one prothrombotic factor is responsible for the acute event. We report on a child in whom an intracardiac thrombus embolized into the descending aorta resulting in subtotal occlusion. Causative for thrombus formation was an idiopathic ventricular tachycardia and a heterozygous activated protein C resistance, both previously unknown. Immediate surgical thrombectomy was successful without sequelae. Antithrombotic and antiarrhythmispioproptylactic treatment was started afterwards. We suggest that in cases of longstanding or repeated tachycardia and in children after thromboembolic events diagnostic work-up for thrombophilia should be undertaken.

Hypoplastic left heart syndrome with intact atrial septum--attempt of an interventional palliation by ductal and interatrial stent implantation.

In patients with hypoplastic left heart syndrome (HLHS) and intact atrial septum, the blood entering the left atrium cannot egress. Emergency treatment interventionally or surgically is mandatory immediately after birth. We describe a patient with HLHS and intact atrial septum who underwent successful transvenous atrial septostomy immediately after birth. When the interatrial communication became restrictive, stent implantation into the arterial duct and into the atrial septum was performed on the 7th day of life. Despite good hemodymanic response, the lung damage was severe and persistent, rendering staged surgical correction impossible. The child died on the 23rd day of life. Autopsy showed patent and correct placed stents in the duct and the atrial septum. There was severe dilatation of pulmonary lymphatic and venous vessels, suggestive of long-standing pulmonary venous hypertension. In conclusion, this form of HLHS has a poor prognosis despite early and aggressive interventional treatment.

Computer-based training in two-dimensional echocardiography using an echocardiography simulator.

Two-dimensional (2D) echocardiography is a user-dependent technique that poses some inherent problems to the beginner. The first problem for beginners is spatial orientation, especially the orientation of the scan plane in reference to the 3-dimensional (3D) geometry of the heart. The second problem for beginners is steering of the ultrasound probe. We have designed a simulator to teach these skills. On a computer screen a side-by-side presentation of a 3D virtual reality scene on the right side and a 2D echocardiographic view on the left side is given. The virtual scene consists of a 3D heart and an ultrasound probe with scan plane. The 2D echocardiographic image is calculated from 3D echocardiographic data sets that are registered with the heart model to achieve spatial and temporal congruency. The displayed 2D echocardiographic image is defined and controlled by the orientation of the virtual scan plane. To teach hand-eye coordination we equipped a dummy transducer with a 3D tracking system and placed it on a dummy torso. We have evaluated the usability of the simulator in an introductory course for final-year medical students. The simulator was graded realistic and easy to use. According to a subjective self-assessment by a standardized questionnaire the aforementioned skills were imparted effectively.