Polish recommendations for diagnosis and therapy of paediatric stroke.

Stroke remains one of the greatest health challenges worldwide, due to a high mortality rate and, despite great progress in its treatment, the significant disability that it causes. Studies conducted around the world show that the diagnosis of stroke in children is often significantly delayed. Paediatric ischaemic arterial stroke (PAIS) is not only a problem that varies greatly in frequency compared to the adult population, it is also completely different in terms of its risk factors, clinical course and outcome. The main reason for the lack of a rapid diagnosis of PAIS is a lack of access to neuroimaging under general anaesthesia. The insufficient knowledge regarding PAIS in society as a whole is also of great importance. Parents and carers of children should always bear in mind that paediatric age is not a factor that excludes a diagnosis of stroke. The aim of this article was to develop recommendations for the management of children with acute neurological symptoms suspected of ischaemic stroke and further treatment after confirmation of the ischaemic aetiology of the problem. These recommendations are based on current global recommendations for the management of children with stroke, but our goal was also to match them as closely as possible to the needs and technical diagnostic and therapeutic possibilities encountered in Poland. Due to the multifactorial problem of stroke in children, not only paediatric neurologists but also a neurologist, a paediatric cardiologist, a paediatric haematologist and a radiologist took part in the preparation of these recommendations.

A rare cause of newborn central cyanosis.

Pulmonary arteriovenous malformations are rare congenital vascular anomalies. They are usually associated with congenital hemorrhagic hemangioma. The hemodynamic effect of fistulas depends on their size, as well as the location. The most common manifestations include central cyanosis, ischemic stroke, murmur over the lung fields, cardiomegaly and, less often, heart failure. We present the case of a child who was admitted to the Department of Pediatric Cardiology and Congenital Heart Defects due to central cyanosis and heart murmur.

New Screening Tool for Aortic Root Dilation in Children with Marfan Syndrome and Marfan-Like Disorders.

One of the roles of a pediatric cardiologist who suspects or diagnoses a genetically determined connective tissue disease (e.g., Marfan, Ehlers-Danlos, and Loeys-Dietz syndromes) is to assess whether the aortic root is dilated. The aortic root diameter is affected by the patient's age, sex, and body surface area. Therefore, the aortic root diameter needs to be determined and expressed as a z-score. Calculation of the z-score is time-consuming and problematic if used infrequently. This study aimed to introduce a simple screening method for identifying aortic root dilation in children. The study population consisted of 190 children who were diagnosed with Marfan syndrome or Marfan-like disorders. The aortic root ratio (ARr) was formulated. The value of the ARr was compared in each patient with the results in z-scores, which were obtained using on-line calculators based on the most widespread nomograms. The optimal cut-off value of the ARr was ≥ 18.7. At this cut-off point, the sensitivity of the ARr ranged from 88.3% to 100% and the specificity ranged from 94% to 97.8%. All of the patients in whom the ARr failed to identify aortic root dilation were also divergently classified by different nomograms. At the ARr cut-off point of ≥ 18.0, a sensitivity of 100% was achieved for all nomograms with minimal reduction in specificity. The ARr allows for rapid and precise screening for aortic root dilation in children. Unlike classic analysis, the ARr does not require nomograms or on-line calculations.

Percutaneous Closure of Post-Infarction Ventricular Septal Defects-An Over Decade-long Experience.

OBJECTIVES: To report an over decade-long experience with percutaneous post-infarction ventricular septal defect (PIVSD) closure. BACKGROUND: PIVSDs remains a major clinical challenge with extremely high mortality. Data concerning interventional closure of PIVSD is scarce. METHODS: All percutaneous PIVSD closures performed between 2003 and 2016 in 8 participating centres were identified. Data concerning patients and procedures was acquired. Patients were divided into two groups, based on the time interval between VSD diagnosis and closure (≤14 days-acute phase, >14 days-non-acute phase). RESULTS: Twenty-one percutaneous PIVSD closures were performed on 20 patients (9 females, mean age: 70 years). Mean interval between the diagnosis and the procedure was 182.6 ± 500 days (range: 7-2228). Defects were mostly located in apical (55%) segments of the septum. In 7 cases (33%) the procedure was performed in the acute phase. The closure was technically successful in 17 cases (81%). Four patients died within 48 hours after the procedure. 30-days survival rate of the entire cohort was 70%. Univariate analysis revealed impact of technical success of the procedure (HR 0.13, CI 0.03-0.68 P = 0.016) and white blood cell count (HR 1.36 per unit increase, CI 1.1-1.69, P = 0.005) on 30-day mortality. CONCLUSIONS: In a selected population of patients percutaneous PIVSD closure is feasible and provides satisfactory survival rate. Procedural success has a protective impact on survival. Timing of the closure remains controversial. Procedure in the non-acute phase carries lower mortality, but at the same time introduces a selection bias. Larger registry-based studies are required.

Closure of Secundum Atrial Septal Defects by Using the Occlutech Occluder Devices in More Than 1300 Patients: The IRFACODE Project: A Retrospective Case Series.

BACKGROUND: The Occlutech Figulla ASD device series (OFSO) shows an improved device design for interventional ASD closure, larger follow-up series are missing. METHODS: We retrospectively reviewed the feasibility, safety, implantation properties, results, and follow-up of ASD closure using Occlutech devices over a 5 year period by establishing a multi-institutional collaborative result registry with 16 contributing centers from 11 countries (IRFACODE). RESULTS: In 1315 patients of all age groups (female 66.9%), successful (98%) ASD closure was performed (mean age 28.9 years, weight 52 kg, height 148.6 cm). Of the defects, 47.9% showed no or only a deficient aortic rim; in 11.9%, there was more than one defect; a septum aneurysm was present in 21.5%; and the mean implanted device size was 20.5 mm. Immediate closure was achieved in 78.6%, at discharge in 83.1%, and 96.4% and 97.3% at 6 and 12 months follow-up, respectively. During a mean follow-up of 2.7 years (in total 3597 patient years), significant complications were minimal (total = 8, <1%) with secondary device embolizations in five and AV-blocks in three patients. No erosion or death was reported. CONCLUSION: ASD closure using OFSO is feasible in a large variety of patients, safe with only a minimal risk of severe side effects and especially without any aortic erosions despite a large percentage of large and complicated defects. © 2016 Wiley Periodicals, Inc.

Paradoxical brain embolism in a young man: is it only a patent foramen ovale?

Paradoxical embolism is considered the major cause of cerebral ischemic events in young patients. The most common cause of paradoxical embolism, which has been widely described, is right-to-left shunting (RLS) at cardiac level through a patent foramen ovale (PFO). Rarely paradoxical embolism can also be caused by RLS at pulmonary level due to pulmonary arteriovenous fistula (PAVF). Herein, we present a case of a young man, who experienced transient ischemic attack (TIA) due to paradoxical embolism, in whom both abovementioned abnormalities coexisted. This coincidence is very rare (noted in only 1% of patients with cryptogenic stroke or TIA), but it highlights the importance of searching for extracardiac RLS in patients with cryptogenic stroke, even if a PFO has been detected.

Safety and efficacy of the Amplatzer™ Trevisio™ intravascular delivery system: Post-approval study results.

BACKGROUND: The Amplatzer™ Trevisio™ Intravascular Delivery System (Trevisio DS; Abbott Laboratories, Chicago, IL, USA) facilitates the delivery of Amplatzer™ Occluders and features an ultraflexible tip, which improves assessment of occluder position before release. AIMS: To assess the safety and efficacy of the Trevisio DS for transcatheter closure of patent foramen ovale and atrial septal defect. METHODS: The Amplatzer™ Trevisio™ Intravascular Delivery System Post-Approval Study was a prospective, postmarket, single-arm, multicentre, observational study of the Trevisio DS. Enrolled patients were indicated for transcatheter closure of patent foramen ovale or atrial septal defect. In all procedures, the Trevisio DS was used to deliver Amplatzer™ Occluders. Technical success was defined as successful deployment and release of at least one occluder. Device- or procedure-related serious adverse events were tracked until discharge or day 7, whichever occurred earlier. RESULTS: The study enrolled 144 patients with patent foramen ovale and 107 patients with atrial septal defect at 22 European sites; 53 patients with atrial septal defect (49.6%) were aged<18years. The rate of technical success was 98.4% (97.2% for atrial septal defect, 99.3% for patent foramen ovale). There was one serious adverse event (0.4%), an acute periprocedural device embolization that occurred after occluder release in a patient with atrial septal defect; the device was retrieved percutaneously. This was determined by the implanter to be unrelated to the performance of the Trevisio DS. CONCLUSIONS: The Trevisio DS exhibited a high rate of technical success and an excellent safety profile during transcatheter closure of patent foramen ovale and atrial septal defect.

Case Report: Right Heart Failure Mistaken for Obesity-A Fault of Telemedicine.

As a result of the COVID-19 pandemic, telemedicine has become an important branch of healthcare worldwide. Apart from their undeniable advantages, the virtual visits lack physical examination, which can lead to important diagnostic mistakes. We hereby present a case of a pediatric patient whose weight gain, initially attributed to a sedentary lifestyle was, in fact, due to sub-acute right heart failure in the context of a ruptured sinus of Valsalva aneurysm. The condition was not diagnosed until the patient presented at the emergency. The boy was successfully treated with two percutaneous interventions and returned to his previous stature.

Anthropometric Determinants of Respiratory Sinus Arrhythmia in Children.

BACKGROUND: The study was conducted to investigate the implications of anthropometry in school-aged children on the degree of respiratory sinus arrhythmia observed in clinical settings. METHODS: In a cohort study, 626 healthy children (52% male) aged 10.8 ± 0.5 years attending primary school in a single town underwent a 12-lead electrocardiogram coupled with measurements of height, weight and blood pressure. Indices of respiratory sinus arrhythmia (pvRSA, RMSSD, RMSSDc) were derived from semi-automatic measurements of RR intervals. Height, weight, BMI, blood pressure as well as waist and hip circumferences were compared between subjects with rhythmic heart rate and respiratory sinus arrhythmia, and correlations between indices of sinus arrhythmia and anthropometry were investigated. RESULTS: Respiratory sinus arrhythmia was recognized in 43% of the participants. Subjects with sinus arrhythmia had lower heart rate (p < 0.001), weight (p = 0.009), BMI (p = 0.005) and systolic (p = 0.018) and diastolic (p = 0.004) blood pressure. There were important inverse correlations of heart rate and indices of sinus arrhythmia (r = -0.52 for pvRSA and r = -0.58 for RMSSD), but not the anthropometry. CONCLUSION: Lower prevalence of respiratory sinus arrhythmia among children with overweight and obesity is a result of higher resting heart rate observed in this population.

Atrial Flow Regulator for Postcapillary Pulmonary Hypertension: First-in-Human Transcatheter AFR Device Implantations in RCM.

Restrictive cardiomyopathy (RCM) has a poor prognosis and limited treatment options apart from heart transplantation (HTx). We report on the first-in-human interventional atrial flow regulator (AFR) implantations in 3 children with RCM, leading to marked clinical and hemodynamic improvement. We propose the AFR as bridge to HTx or destination therapy in RCM. (Level of Difficulty: Advanced.).

Health-Related Quality of Life of Patients with Marfan Syndrome-Polish Study.

Background: Despite extensive knowledge about the quality of life of people suffering from rare diseases, data on patients with Marfan syndrome (MFS) are scarce and inconsistent. Hence, the problem of assessing the quality of life (QOL) and its relationship with the assessment of which ailments are the most burdensome for these patients is still open. Aim: Comparison of the quality of life of patients with MFS and determination as to which of the reported complaints in patients with MFS are related to the QOL of patients. Methods: The study included 35 patients with MFS and 35 healthy controls, matched for gender and age. In the study, the questionnaire of quality of life assessment SF-36 was used to assess the level of health-related quality of life, as well as an interview of the most severe symptoms reported by patients with MFS. Results: The level of the physical dimension of the QOL (p < 0.001) and limiting of roles due to physical health (p = 0.002), as well as the level of general index of the QOL (p < 0.001), were statistically significantly lower in MFS patients when compared to controls. People from both studied groups do not vary in the scope of pain, vitality, social functioning, limiting the roles due to emotional problems, and state of mind but also in the mental dimension of the health-related quality of life (HRQL). Additionally, there has been a correlation between HRQL and the subjective assessment of the effects of orthopedic, ophthalmic, and cardiological problems in life, as well as lower exercise tolerance in the evaluation of people with MFS and QOL in most areas. Conclusions: Patients with MFS present a reduced QOL in the areas of physical functioning, limiting roles due to physical health, general feeling of general health, the physical dimension of the HRQL, and the general index of the QOL; in these areas, they require careful evaluation, as well as medical and psychosocial assistance.

How to Distinguish Marfan Syndrome from Marfanoid Habitus in a Physical Examination-Comparison of External Features in Patients with Marfan Syndrome and Marfanoid Habitus.

Marfan Syndrome (MFS) is a systemic disorder caused by mutations in fibrillin-1. The most common cause of mortality in MFS is dissection and rupture of the aorta. Due to a highly variable and age-dependent clinical spectrum, the diagnosis of MFS still remains sophisticated. The aim of the study was to determine if there exist phenotypic features that can play the role of "red flags" in cases of MFS suspicion. The study population included 306 patients (199 children and 107 adults) who were referred to the Department of Pediatric Cardiology due to suspicion of MFS. All patients underwent complete clinical evaluation in order to confirm the diagnosis of MFS according to the modified Ghent criteria. MFS was diagnosed in 109 patients and marfanoid habitus in 168 patients. The study excluded 29 patients with other hereditary thoracic aneurysm syndromes. Comparative analysis between patients with Marfan syndrome and marfanoid habitus was performed. Symptoms with high prevalence and high positive likelihood ratio were identified (pectus carinatum, reduced elbow extension, hindfoot deformity, gothic palate, downslanting palpebral fissures, lens subluxation, myopia ≥ 3 dioptres remarkably high stature). The differentiation between patients with MFS and marfanoid body habitus is not possible by only assessing external body features; however, "red flags" could be helpful in the screening phase.

The Role of 3D Printing in Planning Complex Medical Procedures and Training of Medical Professionals-Cross-Sectional Multispecialty Review.

Medicine is a rapidly-evolving discipline, with progress picking up pace with each passing decade. This constant evolution results in the introduction of new tools and methods, which in turn occasionally leads to paradigm shifts across the affected medical fields. The following review attempts to showcase how 3D printing has begun to reshape and improve processes across various medical specialties and where it has the potential to make a significant impact. The current state-of-the-art, as well as real-life clinical applications of 3D printing, are reflected in the perspectives of specialists practicing in the selected disciplines, with a focus on pre-procedural planning, simulation (rehearsal) of non-routine procedures, and on medical education and training. A review of the latest multidisciplinary literature on the subject offers a general summary of the advances enabled by 3D printing. Numerous advantages and applications were found, such as gaining better insight into patient-specific anatomy, better pre-operative planning, mock simulated surgeries, simulation-based training and education, development of surgical guides and other tools, patient-specific implants, bioprinted organs or structures, and counseling of patients. It was evident that pre-procedural planning and rehearsing of unusual or difficult procedures and training of medical professionals in these procedures are extremely useful and transformative.

Brachial plexus injury as an unusual complication after aortic stent implantation.

Aorta catheterisation can serve both diagnostic and therapeutic purposes in patients with aortic coarctation, especially when non-invasive evaluation cannot define severity of the abnormality. We report a case of bilateral brachial plexus injury due to standard positioning of the patient's arms during non-complicated aorta catheterisation and aortic stent implantation under general anaesthesia. In discussion, we consider our patient's predisposing factors, the understanding of which may be helpful in avoiding this complication in the future.

What Is the Importance of Electrocardiography in the Routine Screening of Patients with Repaired Tetralogy of Fallot?

BACKGROUND: In patients following complete repair of the tetralogy of Fallot, the duration of the QRS complex is associated with the size and mechanical function of the right ventricle, which are contemporarily assessed by cardiac magnetic resonance (CMR). METHODS: 38 patients aged 18.0-54.9 years (median age 24.9 years) who had undergone complete repair of the tetralogy of Fallot were examined using CMR and concomitant 24 h ambulatory electrocardiography monitoring. We used statistical analysis to investigate the correlations between electrocardiographic parameters (heart rate, HR; PQ interval, PQ; QRS duration, QRS; and corrected QT interval, QTc) and CMR results (right ventricular ejection fraction, RVEF; right ventricular end-diastolic volume index, RVEDVI; and right ventricular end-systolic volume index, RVESVI) for patients after early and late repair. RESULTS: The ECG-based parameters were not correlated with time since repair. There were significant correlations between QRS duration and RVEF (r = -0.61), RVEDVI (r = 0.56), and RVESVI (r = 0.54) for early operated patients but not for late-operated patients. No other substantial correlations were reported. CONCLUSION: Despite its role in screening for arrhythmias, electrocardiography has a limited role as a predictor of morphology and function of the right ventricle in patients after repair of the tetralogy of Fallot.

Case Report: Unexplained Fever and Chest Pain in a 5-Year-Old.

Pericarditis is a rare, but severe cause of chest pain in children that can easily be overlooked during routine diagnostics. Fibrinous pericarditis was recognized in a 5-year old patient who presented with fever and chest pain. Despite thorough diagnostics, no evident etiological factor was found. Furthermore, the disease was unresponsive to broad-spectrum antibiotics and NSAIDs, however oral prednisone was found to cause rapid improvement in the patients' condition. It was presumed that the patient's condition was caused by a blunt trauma to the chest experienced 3 days prior to the onset of symptoms. In an 8-month follow-up the patient remains in good overall condition and no recurrences were observed.

Respiratory Sinus Arrhythmia in Children-Predictable or Random?

Background: Respiratory sinus arrhythmia (RSA) is associated with better health in children. Aim: The study was conducted to analyze the trajectory of RSA in 10-year-olds. Methods: A follow-up study on 120 healthy children (62 boys) aged 10.7 ± 0.5 years consisted of a standard 12-lead electrocardiogram, measurements of height, weight and blood pressure. The protocol was repeated after 3 years. Assessment of RSA based on semi-automatic measurements of RR intervals included: the difference between the longest and shortest RR interval duration (pvRSA), the root mean square of differences between successive RR intervals (RMSSD), the standard deviation of the RR interval length (SDNN) and their equivalents corrected for heart rate (RMSSDc and SDNNc). Results: A the first visit 61.7% of children presented with RSA; 51.7% 3 years later. 23.3% of them had RSA only on the first examination; 13.3% only on the second one. The pvRSA, RMSSD, and SDNN measured in 2019 did not differ significantly from their 2016 equivalents (p > 0.05). The decline in RSA defined by RMSSD was noted in 52.5% of children and in 54.2% when defined by SDNN. The corrected values decreased in 68.3 and 64.2% of the participants for RMSSDc and SDNNc, respectively. The students with RSA at both visits had lower heart rate (p < 0.001) and systolic blood pressure (p = 0.010) compared to those with rhythmic electrocardiograms. Conclusions: RSA in children is changeable, though its measurable indices should be adjusted to heart rate.

Families of people with Marfan syndrome. The relationship between the functioning of the family system and the life quality of the affected persons. / Rodzina osoby z zespolem Marfana. Zwiazki funkcjonowania systemu rodzinnego z jakoscia zycia osoby chorej.

OBJECTIVES: The purpose of the study was to analyze the functioning of afamily as perceived by a person with Marfan syndrome and to look for relationships between the characteristics of the system and the overall quality of life of the ill. METHODS: Participants included 33 individuals with Marfan syndrome and 33 individuals without chronic illness. We used the Family Evaluation Scale - the Polish adaptation of the FACES-IVby D.H. Olson and the Satisfaction with Life Scale (SWLS) by Diener, Emmons, Larson and Griffin. RESULTS: People with Marfan syndrome perceive their families as significantly less coherent and significantly more disengaged than people without chronic illness. This family system of people with Marfan syndrome can be characterized by low scores on the "Cohesion" and "Flexibility" and high scores on the other four scales showing the level of imbalance of the family as a system, which makes this family profile similar to an ?unbalanced' system. Life satisfaction of people with Marfan syndrome correlated positively with "Cohesion", "Flexibility" and "Family Satisfaction" as features of family system perceived by them. CONCLUSIONS: The obtained results confirm the importance of supporting families of people with Marfan syndrome and specialist help aimed at dealing with emotional burden related to the health of the patient.