Search Results (10)

Background/Objectives: Paediatric pulmonary embolism (PE) is rare but potentially lethal, and its diagnosis is complicated by non-specific presentations and multiple predisposing risk factors. We describe a 15-year-old girl who presented with features of pulmonary hypertension and was found to have extensive pulmonary embolism with right heart strain. Methods: The diagnosis was established with echocardiography, computed tomography pulmonary angiography (CTPA), and Doppler ultrasonography. Results: Her predisposing risk factors comprised obesity (BMI 33 kg/m²), a family history of thrombosis, and heterozygous Factor V Leiden. In retrospect, a six-week illness treated as bronchitis, with haemoptysis and exertional syncope, was the probable index embolic event; the markedly elevated right-sided pressures tolerated without haemodynamic collapse indicate a right ventricle that had adapted over that interval. Anticoagulation with low-molecular-weight heparin, titrated to anti-factor Xa activity, was followed by a vitamin K antagonist while antiphospholipid syndrome was excluded and then by rivaroxaban, with clinical, biochemical, and radiographic improvement. Conclusions: This report underscores the need for greater awareness of PE in children, the value of revisiting a recent respiratory illness as a possible index embolic event, and the evolving role of direct oral anticoagulants in its management. Full article

Objective: To investigate the changes in T-wave amplitude and Tp-Te interval on supine and standing electrocardiograms (ECGs) in pediatric postural orthostatic tachycardia syndrome (POTS), and to explore their predictive value for the therapeutic effect of metoprolol. Methods: A total of 59 children diagnosed with POTS who presented with syncope or pre-syncopal symptoms were enrolled as the POTS group, and 52 healthy children served as the control group. Supine and standing ECGs were recorded for all subjects, and T-wave amplitude and Tp-Te interval were measured. Children with POTS were followed-up after metoprolol treatment and divided into a therapeutic response group and a non-response group. Results: (1) Comparison of supine vs. standing ECGs: In the POTS group, standing posture (compared with supine posture) was associated with increased heart rate (HR), decreased T-wave amplitude in leads II, III, aVF, V4, V5, and V6, shortened Tp-Te interval in leads I, II, III, aVR, aVF, V1, V3, V4, V5, and V6, and elevated Tp-Te/QT ratio in leads aVL and V5 (all p < 0.05). (2) Comparison with the control group: The POTS group exhibited a greater HR difference (ΔHR), as well as larger differences in T-wave amplitude (ΔT-wave amplitude) between supine and standing positions in leads II, aVR, aVL, aVF, V3, and V5 (all p < 0.05). (3) Follow-up: Compared with the non-response group, the therapeutic response group showed larger ΔT-wave amplitude in leads III, aVF, V2, V3, V4, and V5, larger Tp-Te interval difference (ΔTp-Te interval) in lead V3, and larger Tp-Te/QT ratio difference (ΔTp-Te/QT ratio) in lead V3 (all p < 0.05). (4) Receiver operating characteristic curve: ΔT-wave amplitude in leads III, aVF, V2, V3, V4, and V5, ΔTp-Te interval in lead V3, and ΔTp-Te/QT ratio in lead V3 all had predictive value for the therapeutic effect of metoprolol in pediatric POTS (all p < 0.05). Conclusions: ΔHR and ΔT-wave amplitude in lead V5 between supine and standing positions are independent risk factors for pediatric POTS. A combination of five indicators—ΔT-wave amplitude in leads V2, V3, and V5, ΔTp-Te interval in lead V3, and ΔTp-Te/QT ratio in lead V3 between supine and standing ECGs—exerts a good predictive effect on the therapeutic response of pediatric POTS to metoprolol intervention. Full article

Background: PRKAG2-related disease is an autosomal dominant disorder caused by pathogenic variants in the PRKAG2 gene, leading to glycogen accumulation in cardiomyocytes. It is characterized by left ventricular hypertrophy (LVH), ventricular pre-excitation, and conduction disease. Due to the rarity of the condition and the frequent occurrence of private variants, functional or pathological testing is required for definitive pathogenicity classification. Case Presentation: We describe a 22-year-old male referred for evaluation after experiencing exertional dyspnea and a syncopal episode. Family history revealed sudden cardiac deaths and conduction disease requiring pacemaker implantation. The patient exhibited mild LVH on imaging, conduction abnormalities on electrophysiological study, and a heterozygous PRKAG2 variant (c.1643C>T; p.Ser548Leu), classified as likely pathogenic according to ACMG guidelines. Cascade screening identified the variant in three family members, one of whom exhibited a positive phenotype. Endomyocardial biopsy revealed glycogen accumulation, providing histopathological confirmation of PRKAG2-related disease. Conclusions: This case underscores the importance of integrating genetic, clinical, and histopathological data in variant interpretation. Endomyocardial biopsy can provide definitive evidence to reclassify a PRKAG2 variant as pathogenic, thereby guiding management and family screening. Full article

Background: Long-distance running impacts many organ systems. Aside from musculoskeletal and cardiopulmonary events, the gastrointestinal and renal system as well as metabolic homeostasis and electrolyte balance can be affected. A respective medical support strategy enabling rapid diagnosis, triage, and treatment in the context of large sports events is thus of utmost importance. Incidents can be assessed and graded via point-of-care (POC) blood gas analysis (BGA). We thus aimed to evaluate the feasibility and benefits of its use during a large sports event. Methods: All documented patient contacts during the race of the Vienna City Marathon (VCM) 2023 were retrospectively assessed. Additionally, the BGAs conducted in all patients requiring intravenous access were analyzed. Data are presented in a descriptive manner. Results: There were 39,871 participants at the VCM 2023. Of these, 277 (0.7%) required medical support, localized most commonly in the finishing area of the race (n = 239, 86% of all incidents). Fifty-eight (20.9%) patients had to be hospitalized. The most frequent chief complaints were syncope or collapse (24.9%), followed by general pain (20.6%) and trauma (14.8%). Five patients (1.8%) suffered from seizures, and one experienced (0.4%) from spontaneous pneumothorax. Thirty-one patients (11.2%) received venous blood gas analyses, showing mean creatinine levels of 1.82 (±0.517) mg/dL, mean lactate concentrations of 6.03 (±4.5) mmol/L, mean pH of 7.42 (±0.0721), and a mean base excess of −0.72 (±3.72) mmol/L. No cases of hyponatremia occurred in the documented samples. In eight cases (25.8%), sodium concentrations were above 145 mmol/L, with a maximum of 149 mmol/L. No cardiac arrests occurred. Conclusions: The physical exertion during the assessed long-distance running race resulted in numerous contacts with the medical support teams. The use of POC BGA at a large-scale marathon event was shown to be easy and feasible, allowing for more extensive diagnostics on-site. It can be integrated into a medical support strategy and might be beneficial for decision-making regarding patient triage, treatment, hospitalization, or patient discharge. Full article

Background: Regardless of genetic origin and recommended screening methods, hypertrophic cardiomyopathy (HCM) is commonly diagnosed late in the advanced stages of the disease. The aim of this study was to analyse the case history of patients with HCM in order to obtain an initiation of the diagnostic process. Methods: This study was a retrospective, tertiary, single-centre cohort analysis of 85 consecutive pts with HCM (mean age at the time of HCM diagnosis: 51 ± 15 years; F/M: 42/43) who were hospitalized during the period from 1 January 2013 to 31 December 2022. Type of referral to the hospital, the reason for hospitalization as well as accompanying symptoms, comorbidities, and family history were analysed to obtain an initiation of the diagnostic process. The analysis was limited to hospitalizations in which the diagnosis of HCM was stated for the first time. Results: An analysis of the type of referral to the hospital revealed the following data: 18% of patients were admitted as urgent hospitalizations (UHs) and 82% as elective hospitalizations (EHs). Among the UHs, the majority of patients were transferred from another hospital (13%), and among the EHs, 65% of patients were referred from a specialised outpatient medical care (SMC) facility. The majority of patients in both the UH and EH groups were symptomatic: 84% in the EH group (the most common symptom was exertional dyspnea in 56% of pts) and 93% in the UH group (the most common symptom was syncope in 60% of pts). Among the analysed population, the most frequent comorbidities were systemic hypertension (51%), lipid metabolism disorders (38%) and obesity (23%). Conclusions: A diagnosis of HCM is often made at an advanced age in symptomatic patients, mainly during an EH. Nearly one-fifth of the Polish HCM population is diagnosed during a UH after a sudden event, which suggests the need for improvements in medical care in Poland. Full article

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe hereditary arrhythmia syndrome predominantly affecting children and young adults. It manifests through bidirectional or polymorphic ventricular arrhythmia, often culminating in syncope triggered by physical exertion or emotional stress which can lead to sudden cardiac death. Most cases stem from mutations in the gene responsible for encoding the cardiac ryanodine receptor (RyR2), or in the Calsequestrin 2 gene (CASQ2), disrupting the handling of calcium ions within the cardiac myocyte sarcoplasmic reticulum. Diagnosing CPVT typically involves unmasking the arrhythmia through exercise stress testing. This diagnosis emerges in the absence of structural heart disease by cardiac imaging and with a normal baseline electrocardiogram. Traditional first-line treatment primarily involves β-blocker therapy, significantly reducing CPVT-associated mortality. Adjunctive therapies such as moderate exercise training, flecainide, left cardiac sympathetic denervation and implantable cardioverter-defibrillators have been utilized with reasonable success. However, the spectrum of options for managing CPVT has expanded over time, demonstrating decreased rates of arrhythmic events. Furthermore, ongoing research into potential new therapies including gene therapies has the potential to further enhance treatment paradigms. This review aims to succinctly encapsulate the contemporary understanding of the clinical characteristics, diagnostic approach, established therapeutic interventions and the promising future directions in managing CPVT. Full article

Myocardial bridging (MB) is a congenital coronary anomaly, which is defined as cardiac muscle overlying a portion of a coronary artery. Although traditionally considered benign in nature, increasing attention is being given to specific subsets of MB. Sports medicine recognizes MB as a cause of sudden death among young athletes. We present a case of a 30-year-old man who suddenly collapsed during a marathon running. Diagnostic workup with coronary computed tomography angiography revealed the presence of three simultaneous myocardial bridges in this patient, possibly explaining the exercise-induced syncope. The other diagnostic tests excluded seizures, cranioencephalic lesions, ionic or metabolic disturbances, acute coronary syndromes, cardiomyopathies, myocarditis, or conduction disturbances. Exertional syncope is a high-risk complaint in the marathon runner. In the context of intense physical activity, the increased sympathetic tone leading to tachycardia and increased myocardial contractility facilitates MB ischemia. In this illustrative case, the patient’s syncope might probably be associated with an ischemia-induced arrhythmia secondary to MB and potentiated by dehydration in the context of prolonged stress (marathon running). In conclusion, this case highlights that MB may be associated with dangerous complications (myocardial ischemia and life-threatening ventricular arrhythmias), particularly during intense physical activity and in the presence of a long myocardial bridge. Full article

The atrial septal defect is, after bicuspid aortic valve disease, the most common congenital cardiac disease present in the adult population. The most common atrial septal defects are the ostium secundum type (75–80%), followed by the ostium primum type (15%). The sinus venosus atrial septal defects (SV-ASD), defined as a communication in the posterior part of the interatrial septum, account for about 5 to 10% of atrial septal defects. Approximately 90% of SV-ASDs are associated with partial anomalous pulmonary venous drainage (PAPVD). The minimally invasive approach has gained ground in the treatment of ASDs, especially those of the ostium secundum type. The sinus venosus type is a relatively uncommon form of ASD, which, when associated with a PAPVD, is considered a complex cardiac malformation, and is usually treated in a classical manner, through median sternotomy. We describe the case of a 45-year-old woman diagnosed in adolescence with SV-ASD with PAPVD, who successfully underwent minimally invasive repair with fresh autologous pericardial patch reconstruction through an anterolateral mini-thoracotomy incision. The patient presented with shortness of breath and fatigue after heavy exertions, episodes of paroxysmal nocturnal dyspnea, palpitations during effort and at rest, and had a history of syncope dating from 17 years previously. Echocardiography revealed an SV-ASD with PAPVD in the right atrium and the intraoperative examination discovered that both right pulmonary veins were draining into the superior vena cava. Full article

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is one of causes of sudden cardiac death in the young, especially in athletes. Diagnosis of CPVT may be difficult since all cardiological examinations performed at rest are usually normal, and exercise stress test-induced ventricular tachycardia is not commonly present. The identification of a pathogenic mutation in RYR2 or CASQ2 is diagnostic in CPVT. We report on a 20-year-old athlete who survived two sudden cardiac arrests during swimming. Moreover, he suffered repeated syncopal spells on exercise. The diagnosis was made only following genetic testing using a multi-gene panel, and the p.Arg420Gln RYR2 variant was identified. We present diagnostic and therapeutic issues in this young athlete with CPVT. Full article

Adenosine and its receptors exert a potent control on the cardiovascular system. This review aims to present emerging experimental evidence supporting the existence and implication in cardiovascular disorders of specific adenosinergic pharmacological profiles, conforming to the concept of “receptor reserve”, also known as “spare receptors”. This kind of receptors allow agonists to achieve their maximal effect without occupying all of the relevant cell receptors. In the cardiovascular system, spare adenosine receptors appear to compensate for a low extracellular adenosine level and/or a low adenosine receptor number, such as in coronary artery disease or some kinds of neurocardiogenic syncopes. In both cases, the presence of spare receptors appears to be an attempt to overcome a weak interaction between adenosine and its receptors. The identification of adenosine spare receptors in cardiovascular disorders may be helpful for diagnostic purposes. Full article