Conduction Disorders Research Articles

Prenatally Diagnosed Cardiac Tumors and Tuberous Sclerosis Complex: A Single-Center Experience

Background/Objectives: Cardiac rhabdomyoma (CR), the most frequently occurring fetal cardiac tumor, is often an early marker of tuberous sclerosis complex (TSC). This study evaluates outcomes of fetuses with prenatally diagnosed cardiac tumors managed at a single tertiary center. Methods: Medical records of fetuses diagnosed with cardiac tumors between 2009 and 2024 were retrospectively reviewed. Results: Sixteen cases were identified, with a median follow-up of 6.7 years. TSC was confirmed in 14 cases (88%). Multiple tumors were observed in 13 cases (81%), while 3 cases (19%) had solitary tumors (19%). Both non-TSC cases involved solitary tumors. Cardiac complications (arrhythmias, conduction disorders, and hemodynamic abnormalities) occurred in 38% of cases prenatally and 69% postnatally, with larger tumor diameters significantly associated with complications (p = 0.02). No fetal hydrops or mortality occurred; however, one child died at age five due to a seizure. Postnatal tumor regression occurred in 56% of cases and complete regression in 38% by a median age of 2.3 years (range: 0.6–4.4). One tumor remained stable. Brain MRI revealed TSC-related changes in all TSC-affected patients except one, who had a developmental brain anomaly. Most TSC patients experienced epilepsy (71%) and developmental delays. Conclusion: While CRs are typically benign and regress spontaneously, their strong association with TSC highlights the importance of early diagnosis and family counseling. TSC-related epilepsy and psychomotor delays significantly impair the quality of life. Early mTOR inhibitor therapy offers promise in mitigating TSC-related complications and improving outcomes.

The Prevalence and Predictors of Atrioventricular Blocks in Syrian Patients Reporting to the Emergency Department During the Ongoing Conflict: A Cross-Sectional Study.

Atrioventricular block (AVB) is a cardiac conduction disorder that can lead to significant clinical outcomes, particularly in resource-limited and conflict-affected regions. In Syria, healthcare infrastructure has been severely impacted by ongoing conflict, potentially affecting the prevalence and management of AVB. We conducted a cross-sectional study at Tishreen University Hospital in Latakia, Syria, with patients > 40 who presented to the emergency department (ED) from June 1 to August 1, 2024. Routine 12-lead ECGs were performed, with AVB diagnoses confirmed by two independent cardiology consultants. Exclusion criteria included pre-existing AVB, pacemaker presence, hemodynamic instability, and ECG diagnostic discrepancies. Patient demographics and comorbidities were assessed, and logistic regression analyses identified predictors of AVB. The final analysis included 692 patients, of which AVB was detected in 7% of the cohort. Patients with AVB were significantly older (median age 76 vs. 54 years, p < 0.001) and had higher rates of ischemic heart disease (IHD) (62% vs. 14%, p < 0.001) and diabetes (56% vs. 21%, p = 0.01). Logistic regression showed older age (odds ratio [OR]: 2.8, 95% confidence interval [CI]: 1.6-5.6, p < 0.001), IHD (OR: 1.9, 95% CI: 1.4-4.5, p < 0.001), and DM (OR: 3.9, 95% CI: 2.9-8.3, p < 0.001) were independently associated with AVB. AVB prevalence in the Syrian ED setting is high, with age, IHD, and diabetes as significant predictors. Routine ECG screening in EDs may facilitate early AVB detection in at-risk populations, especially in conflict-affected regions with limited healthcare resources. This approach could improve outcomes by enabling timely intervention in high-risk patients.

High prevalence of atrial conduction abnormalities in Lewy body disease - a marker of cardiac complications?

Increasing evidence suggests that Lewy body disease (LBD) is associated with clinically important cardiac complications, including sick sinus syndrome, atrial fibrillation and sudden cardiac death. The high prevalence of sick sinus syndrome and atrial fibrillation in LBD suggests the presence of disease-related atrial conduction disorders. To explore whether LBD is associated with atrial conduction disorders, electrocardiographic (ECG) P wave parameters were analyzed in a cohort of LBD patients (n = 74), using age-matched Alzheimer's disease (AD) patients (n = 25) as controls. P wave terminal force in V1 and P wave duration were found to be significantly greater in the LBD group than in the AD group. In addition, 43 (58%) individuals in the LBD exhibited pathological P wave terminal force (> 4000µV*ms) vs 3 (12%) in the AD group, and 60 (81%) in the LBD group exhibited pathological P wave duration (≥ 120ms), vs 13 (52%) in the AD group. The difference could not be explained by atrial fibrillation or atrial enlargement on echocardiogram. The clinical significance of pathological P wave parameters in LBD is unknown, but their presence suggests an atrial cardiomyopathy that could be due to cardiac alpha-synuclein deposition, autonomic dysfunction, or a combination thereof. Future research is warranted to elucidate whether this proposed disease-related atrial cardiomyopathy is related to cardiac alpha-synuclein deposition, whether it is causally related to cardiac complications in LBD, and whether pathological P wave parameters hold potential as a screening tool for cardiac complications in LBD.

Optimizing Outcomes in Transcatheter Aortic Valve Replacement Addressing Cerebrovascular Complications and Enhancing Patient Safety.

Transcatheter aortic valve replacement (TAVR) has revolutionized the treatment of severe aortic stenosis, becoming the gold standard for many patients. Despite its advantages over surgical aortic valve replacement, TAVR is associated with significant complications, including paravalvular leakage, conduction disorders, and cerebrovascular events. This review focuses on the pathophysiology, incidence, and management of cerebrovascular complications following TAVR. We explore the mechanisms leading to these events, including embolization of debris from the calcified valve and aortic arch, and the role of procedural factors. The review also discusses the timing of cerebrovascular events, diagnostic approaches, and potential preventive strategies, including embolic protection devices. Understanding these complications is crucial for improving patient outcomes and refining TAVR techniques.

Obstructive sleep apnea syndrome: clinical aspects

Obstructive breathing disorders during sleep have important clinical significance. Currently, there is every reason to believe that they increase the incidence of cardiovascular diseases and mortality. A series of multicenter studies have shown that snoring and obstructive sleep apnea may be risk factors for arterial hypertension, coronary heart disease, heart rhythm and conduction disorders, right ventricular heart failure, and cerebral stroke. The prevalence of obstructive sleep apnea syndrome among the entire population over 30 years of age is 5–7 %. Severe forms of the disease are observed in 1–2 % of this group. In individuals over 60 years of age, its incidence increases significantly and is approximately 30 % in men and 20 % in women.

Clinical and genetic features of AGel amyloidosis caused by novel gelsolin variant and its impact on cardiac function and conduction disorders

Clinical and genetic features of AGel amyloidosis caused by novel gelsolin variant and its impact on cardiac function and conduction disorders

Paradoxical improvement in exercise tolerance and peak VO2 consumption after treatment with ivabradine and beta-blockers in a patient with mild dilated cardiomyopathy and inappropriate sinus tachycardia—a case report

Abstract Background Left bundle branch block (LBBB) is a rare conduction disorder in athletes associated with ventricular dyssynchrony, which can lead to left ventricular systolic dysfunction and exercise intolerance. Inappropriate sinus tachycardia (IST) is characterized by an excessive heart rate (HR) that is not related to physiological needs, often resulting in reduced exercise capacity. Managing these conditions in athletes can be challenging, as standard treatments like beta-blockers and ivabradine, while effective in controlling HR, are described to be associated with a reduction in maximal exercise performance. Case summary A 50-year-old amateur athlete presented with exercise intolerance, LBBB, and mild dilated cardiomyopathy due to ventricular dyssynchrony. Resting electrocardiogram and 24-h monitoring confirmed IST. Initial cardiopulmonary exercise testing (CPET) off-therapy showed rapid HR increase during exertion, an early plateau in oxygen pulse, and reduced peak oxygen consumption (VO2, 22.1 mL/kg/min, 76% of the predicted value). After 1 month of ivabradine 5 mg b.i.d., there was some improvement in these parameters. At the third follow-up, with combined therapy of ivabradine (5 mg b.i.d.) and metoprolol (50 mg b.i.d.), the HR response during exercise normalized, and CPET parameters significantly improved, with peak VO2 reaching 29.2 mL/kg/min (101% of the predicted value). Discussion This case highlights a paradoxical improvement in exercise tolerance and peak VO2 with combined ivabradine and beta-blocker therapy in a patient with IST. The treatment optimized the HR response during exercise, suggesting that individualized strategies can enhance exercise performance in patients with IST and mild cardiomyopathy, despite the expected limitations of these medications.

Deficits in emotional cognition among individuals with conduct disorder: theoretical perspectives

Conduct disorder refers to a persistent and repetitive pattern of problematic behavior, and is usually accompanied by deficits in cognitive processing of emotional stimuli. Behavioral and physiological correlates of these deficits have been the subject of sufficiently many investigations. Meanwhile, several theories concerning conduct disorder have been developed. However, the validity of these theories to explain the emotional processing deficits among conduct-disordered individuals has not been tested. Here we summarized four relevant theories, including “social-cognitive theory and social-information-processing theory”, “violence inhibition model”, “optimal stimulation/arousal theory and stimulation/sensation seeking theory”, and “fearlessness theory”, and discussed their validity in predicting the emotional processing deficits among conduct disordered individuals. Future directions on the theories and evidence were proposed.

Advantages of using T1-mapping in cardiac magnetic resonance imaging in patients with acromegaly

Aim. To determine the incidence of interstitial myocardial fibrosis (MF) in acromegaly, which leads to the development of cardiac arrhythmias and conduction disorders. Materials and methods. A single-center study was conducted, including 70 patients with acromegaly. All patients underwent standard medical examinations, including hormonal blood tests, electrocardiograms, echocardiography, Holter monitoring electrocardiograms and magnetic resonance imaging (MRI) of the heart with gadolinium contrast, additionally 48 patients underwent T1-mapping, which is an MRI method that allows the detection of diffuse changes by measuring the values of myocardial relaxation time – T1. Results. The study revealed a high incidence of MF – 53 (75.7%) cases (21 women, 32 men). The duration of the disease was found to be critical for myocardial remodeling (p=0.006). Compliance criteria for the T1-mapping technique were determined, with reduced T1-mapping values observed in 85.2% of cases. The ROC analysis (Receiver Operator Characteristic) determined the diagnostic value of post-contrast T1-mapping: AUC (Area Under the Curve)=0.906 (95% confidence interval 0.789–1.000), a sensitivity of 90%, and a specificity of 76.5%, indicating high diagnostic efficiency. According to the Youden index, a cut-off point of 372.5 ms was selected. Conclusion. Myocardial T1-mapping is a novel MRI method that allows to assess the degree of MF without the need for myocardial biopsy. The obtained information is crucial for the diagnosis and prognostic assessment of heart diseases, particularly in cases of hypertrophic cardiomyopathy or infiltrative diseases. The T1-mapping method, which is actively developing, can serve as a marker for early diffuse myocardial fibrosis and help determine the prognosis for patients with acromegalic cardiomyopathy.

Incidence and Risk of Cardiovascular Outcomes in Patients With Anorexia Nervosa

Anorexia nervosa (AN) is commonly associated with cardiovascular complications. To investigate the trajectories of the risk of cardiovascular conditions in a nationwide cohort of patients with AN in Taiwan. From a population-based health insurance database from January 1, 2011, to December 31, 2021, this longitudinal cohort study identified patients with AN and controls through propensity score matching at a 1:10 ratio according to sex, age, urbanization level of residence, socioeconomic status, and year of diagnosis. Data were analyzed from June 27, 2023, to February 23, 2024. First-time diagnosis of AN by psychiatrists during the study period. Incidence and risk of composite cardiovascular conditions. Kaplan-Meier curves were used to estimate the cumulative incidence of major adverse cardiovascular events (MACE) and any cardiovascular condition. With adjustment for psychiatric comorbidities, conditional Cox proportional hazards regression analyses were performed to estimate the risk of cardiovascular events, which were presented as hazard ratios (HRs) and 95% CIs, relative to the comparison group. Risks of individual cardiovascular conditions were calculated during 3 follow-up periods after AN diagnosis. The study population included 2081 patients with AN and 20 810 matched controls, for a total of 22 891 participants (mean [SD] age, 24.9 [9.9] years; 91.3% female). In total, 99 patients with AN (4.8%) had MACE vs 175 (0.8%) in controls, and 124 patients with AN (6.0%) had any cardiovascular condition vs 483 controls (2.3%). At the 5-year follow-up, the cumulative incidence rate of MACE was 4.82% (95% CI, 3.85%-6.02%) and of any cardiovascular condition was 6.19% (95% CI, 5.19%-7.53%). Compared with the control group, the AN group had significantly higher risks of MACE (adjusted HR [AHR], 3.78; 95% CI, 2.83-5.05) and any cardiovascular condition (AHR, 1.93; 95% CI, 1.54-2.41). The significantly increased risks of congestive heart failure, conduction disorder, and structural heart disease occurred in the initial follow-up period and disappeared after 60 months of follow-up. Notably, patients with AN did not have an increased risk of ischemic heart disease until after 60 months of follow-up (AHR, 3.01; 95% CI, 1.48-6.13). In this national matched cohort study, increased risk of cardiovascular conditions was found in different periods after AN diagnosis. Clinicians should monitor comorbid cardiovascular conditions among patients with AN at initial presentation, during treatment, and at follow-up.

Early intravenous beta-blockers injection in patients with acute STEMI: the results of the Russian registry REGION-IM

Aim. To study the features of the appointment of beta-blockers (BB) therapy in the early stages of acute myocardial infarction without ST segment elevation (nonSTEMI) in real clinical practice in the Russian Federation according to the REGION registry, to analyze the frequency and use cases of Intravenous forms (IVF).Material and methods. REGION-IM is a multicenter prospective Russian registry of acute myocardial infarction (AMI). The database records demographic, anamnestic, clinical characteristics of patients, results of laboratory and instrumental examinations. The patient’s recruitment was carried out from 01.11.2020 to 30.06.2023. Overall, 10,884 patients with AMI were included in the MI REGION, of which 3252 patients with non-STEMI and 7631 — with acute myocardial infarction with ST segment elevation (STEMI), information on the appointment or refusal of IV therapy on the first day of hospitalization is present for 7597 patients with STEMI.Results. On the first day after hospitalization, 1.2% (n=91) of patients with STEMI received IVF therapy. In all cases, metoprolol was used at an average daily dose of 4.43 mg. The majority of patients (61.5%, n=56) were transferred to oral administration of BB on the first day, another 33% of patients (n=30) — the next day, 4.4% (n=4) received only intravenous BB, one (1.1%) information is missing due to the transfer to another hospital. The most common relative and absolute contraindications to the appointment of BB — acute heart failure (AHF), including Killip II, and systolic blood pressure less than 120 mmHg. They were observed in less than 20% of all patients with STEMI and in 13% and 12% of patients who received IVF. 74% of patients received oral medications on the first day. Oral forms of BB were used to initiate therapy 61 times more often than IVF of BAB (p&lt;0.0001). Hospital mortality among all patients with STEMI was 4.3% (n=328). Of these, 3.3% (n=249) — cardiac death, 0.7% (n=58) — non-cardiac cause of death, 0.3% (n=21) — the cause of death is not specified. In the group of patients who received IVF, 2.2% died (n=2, of which 1 was a cardiac cause, 1 was not indicated), 4.3% did not receive it (n=326, 76% was a cardiac cause). There was no statistically significant difference in hospital mortality in patients treated with IVF and those who did not receive IVF.Conclusion. The results of the REGION-IM registry demonstrate an unreasonably rare frequency of IVF use in the early stages of the disease in patients with STEMI. Intravenous administration of metoprolol at an average total dose of about 4-5 mg on the first day of hospitalization with further transition to oral administration of BAB was safe. There was no significant difference in the frequency of deaths in the hospital, cases of AHF, cardiogenic shock, severe conduction disorders in the form of grade II-III AV block between the groups of patients who received and did not receive IVF.

Factors influencing the use of direct oral anticoagulants among patients with chronic chagas cardiomyopathy

Objective. Chronic Chagas cardiomyopathy (CCC) carries a high risk of embolic events due to structural changes in the left ventricle and frequent conduction disorders. However, there is limited data on anticoagulant prescription patterns and factors influencing the use of direct oral anticoagulants (DOACs) in these patients. This study aims to characterize CCC patients based on the anticoagulant therapy received and identify factors associated with DOACs use. Materials and Methods. A cross-sectional study was conducted at a tertiary-level hospital in Colombia between 2019-2022. Multivariate logistic regression models were used to assess factors associated with anticoagulant therapy and DOACs use. Results. Among 224 CCC patients, 65.7% (n=153) were on anticoagulants, with DOACs being the most prescribed (53%). Notably, 35% of patients at high risk of stroke (CHA2DS2-VASc) were not receiving anticoagulants. Atrial fibrillation (OR 256.08; 95% CI 61.94-1058.72), ventricular aneurysms (OR 4.82; 95% CI 1.54-15.09), and reduced interventricular septal thickness (OR 0.75; 95% CI 0.60-0.92) were associated with anticoagulant use. DOACs were mainly prescribed for patients with atrial fibrillation (OR 13.29; 95% CI 2.47-71.56) and high bleeding risk (HAS-BLED ≥3, OR 11.36; 95% CI 1.15-112.11). Conclusions. A significant proportion of CCC patients were not receiving anticoagulants despite their high risk of stroke and embolic events. The use of anticoagulation was significantly associated with atrial fibrillation, the presence of ventricular aneurysms and reduced interventricular septal thickness. It is crucial to raise awareness among healthcare professionals in endemic areas to improve treatment.

Spinal cord conduction disorders among neurological complications of degenerative dystrophic diseases of the cervical spine

Neurological complications of degenerative dystrophic diseases of the cervical spine depend on the involvement of functionally significant structures of the cervical spine in the pathological process. Current diagnostic techniques do not always accurately diagnose the involvement of these structures in the pathological process. This fact requires constant study and development of the novel methods for diagnosing degenerative dystrophic diseases of the cervical spine. In this regard, the purpose of the study is to identify various clinical and pathogenetic forms of the clinical course of degenerative dystrophic diseases of the cervical spine with the presence of manifestations of spinal cord conduction disorders based on the study of clinical symptoms and neuroimaging data of the cervical spine. The work is based on the study of clinical manifestations and magnetic resonance imaging of the cervical spine in the preoperative period in 457 patients with degenerative diseases of the cervical spine aged from 22 to 64 years. Among the patients, women predominated: 271 cases (59.3 %). Men made up 40.7 % (186 cases). Pathology in the form of a herniated intervertebral disc was detected at the levels of CV–CVI in 192 cases (42.0 %), CVI–CVII in 179 cases (39.2 %), CIV–CV in 45 cases (9.8 %), and CVII — ThI in 41 cases (9.0 %). Disc herniation at two levels simultaneously was diagnosed in 6.7 % (31 cases). The complex of patient examination included general clinical, neurological, and neuroimaging studies using MRI of the cervical spine. Damage to one of the functionally significant anatomical structures of the cervical spine occurred in 48.4 % (221 cases). Simultaneous involvement of two or more of these structures in the pathological process was diagnosed in 51.6 % (236 cases). Comparison of the neurological symptoms of the disease with magnetic resonance imaging data of the cervical spine makes it possible to diagnose five forms of degenerative dystrophic diseases of the cervical spine: 46.8 % — radicular, 1.5 % — myelic, 38.1 % — combined myelo-radicular, 7.5 % — combined radicular angiocerebral, and 6.1 % — combined myelo-radicular and angiocerebral. Notably, symptoms of spinal cord conduction disorders were identified in myelic, combined myelo-radicular, and combined myelo-radicular and angiocerebral forms. Due to the possible presence of a combination of spinal cord conduction disorders with symptoms of compression or irritation of the spinal cord roots and vertebral artery among neurological complications, the clinical manifestations of the disease acquire a significant polymorphism of symptoms, which is always associated with difficulties in diagnosing degenerative dystrophic diseases of the cervical spine. The identified clinical and radiological criteria for myelic, combined myelo-radicular, and combined myelo-radicular and angiocerebral forms of the course of this pathology of the cervical spine are decisive in the differential diagnosis with any other pathology of the spinal cord and for determining the feasibility of individual medical rehabilitation measures.

Holter monitoring results in adolescents with chronic inflammatory pathology of the upper gastrointestinal tract

Background. Upper gastrointestinal tract (GIT) chronic disorders in adolescence may be accompanied by the cardiac complaints and electrophysiological changes in the myocardium. Considering of cardiovascular activity assessment modern methods and new way of gastrointestinal tract disease therapy management, heart functional state needs further clarification. Purpose. Clarifying the nature and frequency of changes in the heart Holter ECG monitoring (HM ECG) in adolescents with chronic inflammatory pathology of the upper gastrointestinal tract and determining the significance of concomitant conditions (benign CSF hypertension syndrome, autonomic dysfunction syndrome, and undifferentiated connective tissue dysplasia) in relation to their occurrence. Materials and methods. 69 adolescents with chronic inflammatory process of the GIT were examined. Control group included 36 children without GIT disorders. Presence of the most common concomitant diseases: benign intracranial hypertension syndrome (BIHS), autonomic dysfunction syndrome (ADS), undifferentiated connective tissue dysplasia (UCTD), were considered. Сardiovascular system examination, standard 12-channel resting ECG (electrocardiography), HM ECG considering the data of the well-being diary, heart echocardiographic examination (EchoCS) was provided for all patients. Results. Тhe frequency of HM ECG changes was more common among adolescents with inflammatory diseases of the GIT patients compared to the peers of the control group (72.46% vs. 52.78, respectively, р &lt; 0,05). Impaired impulse formation was observed in 71.01% of cases, the ST-T interval and T wave abnormalities were present in 60.87% of adolescents, combined rhythm disorders – in 13.04% of cases, cardiac conduction disorders – in 18.84%. Sinus tachycardia and combined rhythm disturbances were significantly more frequently detected among female patients (pj &lt; 0.05). Impaired impulse formation was recorded significantly more often in children with gastroesophageal reflux disease (GERD) than in children with chronic gastritis (85.71% vs 65.91; p &lt; 0.05). Arrhythmias were benign in 85.51% of cases. The frequency of their detection did not depend on the clinical variant of the gastrointestinal tract disease. The analysis results of the influence probability of concomitant diseases or their combination on the development of arrhythmias in patients did not reach the level of statistical significance (p &gt; 0.05). Conclusions. In adolescents with chronic diseases of the gastrointestinal tract, various bioelectrical ECG phenomena are more often registered. Among them, there is a violation of automatism, conduction and repolarization of the myocardium of the ventricles. Sinus tachycardia and combined rhythm disturbances were significantly more common in girls. Violation of the automated heart was more typical for patients with GERD. Unfavorable variants of arrhythmias were registered in 14.49% of teenagers. It was established that such concomitant conditions as benign CSF hypertension, autonomic dysfunction syndrome and undifferentiated connective tissue dysplasia do not have a significantly greater influence on the development of functional heart disorders in children with gastrointestinal tract pathology.

Conduction disorders after rapid deployment AVR compared to conventional AVR.

Objectives We evaluated and compared incidence and evolution of atrioventricular and intraventricular conduction disorders following rapid deployment AVR and conventional AVR. Methods 147 patients who underwent isolated rapid deployment AVR between 2017 and 2021 as well as 128 patients after conventional biological AVR in the same period were included in this study. ECGs recorded at baseline, discharge and 12 months were retrospectively analyzed. Results Patients in both groups had comparable a STS score (2.9 ± 1.6 vs 3.1 ± 2.2 p=0.32) and comparable baseline characteristics. At discharge the mean QRS width in the RDAVR group was significantly increased with 117.4  28.6 ms and a mean  QRS width of 21.7  26.3 ms (p<0.001) compared to baseline. No significant changes of QRS width were found in the AVR group with a mean value of 101.2  24.1 ms and a mean  QRS width of 3.9  23.9 ms at discharge (p=0.193). Left bundle branch block was increased in the RDAVR group after 12 months (19.3% vs 5.1% p<0.001) Permanent pacemaker implantation rates were significantly higher in the RDAVR group after 12months. (HR: 4.68; 95% CI: 2.23 - 7.43 p<0.001) Mortality did not differ in both groups after 12 months (HR: 1.09; 95% CI: 0.46 - 1.83; p = 0.835) Conclusions Patients after RDAVR showed significant higher rates of left bundle branch block with significantly increased QRS width and permanent pacemaker implantation after 12 months. However, higher mortality was not observed in the RDAVR group.

A phenotypic comparison of the Romanian and French ATTRv cohorts: Glu54Gln founder pathogenic variant vs the most common variants in Western Europe

Aim and methodsWe conducted a retrospective observational study of the ATTRv heterozygous mutation frequency, phenotype, and all-cause mortality at two cardiac amyloidosis centers in Romania and France. Results291 patients were included: 26 Glu54Gln (all Romanian), 200 Val122Ile, 47 Val30Met and 18 Ser77Tyr. On diagnosis, Gu54Gln patients were younger than Val122Ile or late-onset Val30Met (median age: 46 [42–50], 76 [71–80] and 70 [61–76], respectively; p < 0.001) and had more autonomic dysfunction (50 %, 6.3 %, and 7.7 %, respectively; p < 0.001) and similar cardiac symptom profiles. They had fewer conduction disorders (11.5 %) than early-onset Val30Met (76.9 %, p < 0.001) and Ser77Tyr group, notably less cardiac pacemaker present on diagnosis: 3.8 % for Glu54Gln vs. 23.5 % for Ser77Tyr; p = 0.014. Glu54Gln, Val122Ile, late-onset Val30Met and Ser77Tyr patients had similar left ventricular mass and systolic function values. Median survival for Glu54Gln patients was 58.7 years (95 %CI 55.9 – upper bound indeterminable), significantly lower than that of Val122Ile (83.6 years 95 %CI 81.6–85.5, log-rank test p < 0.001), late-onset Val30Met (83.4 years 95 %CI 81.9–84.9, log-rank test p < 0.001) and Ser77Tyr (74.8 years 95 %CI 68.7–80.9, log-rank test p = 0.022). Median survival after diagnosis was 5.7 years for Glu54Gln patients (95 %CI 4.7–6.4). ConclusionWe established that the Glu54Gln variant has an aggressive, mixed phenotype, with an early onset of autonomic dysfunction and heart failure symptoms. We emphasize the need for systematic genetic testing in patients with ATTR as understanding genotype-phenotype correlations is key for the management and the counseling of patients and their family members.

CARDIOMYOPATHIES IN CHILDHOOD: CLINICAL COURSE, DIAGNOSIS AND CARE TACTICS

The article examines aspects of the clinical course, diagnostics and treatment of various forms of cardiomyopathy (dilated, hypertrophic, restrictive) in children. Due to the relevance of the problem, the obtained data on the features of the clinical course, diagnostics and tactics of patient management are of interest to cardiologists, general practitioners and pediatricians of family clinics. A total of 37 children aged 0-17 years were examined. Among those examined, the frequency of various forms of cardiomyopathy was: dilated - 62.1%, hypertrophic - 32.4%, restrictive - 5.4%. Anamnestic data, severity of the course, features of ECG, echocardiography, radiography for each form of cardiomyopathy were studied. Latent, mild, but more often moderate and severe course of the disease was noted. Patients with DCM and HCM often have various rhythm and conduction disorders. Outpatient observation and timely (continuous) therapy of CHF are indicated for children with cardiomyopathies. In severe cases of HCM with obstructive forms of HCM, the issue of surgical treatment is considered.

Long-term prognosis of patients with an SCN5A loss-of-function variant and progressive cardiac conduction disorder or Brugada syndrome

BackgroundThe long-term prognosis of patients with a loss-of-function variant in the cardiac sodium channel gene SCN5A is unknown. ObjectiveThis study aimed to evaluate the long-term arrhythmic risk in patients with an SCN5A loss-of-function variant to identify predictors of arrhythmic events. MethodsProbands and family members with (likely) pathogenic SCN5A loss-of-function variants were retrospectively included. Clinical and electrocardiographic data at baseline and last follow-up were collected. Patients with a history of cardiac arrest, sustained ventricular tachycardia, symptomatic or documented atrial tachy- or bradyarrhythmia, or arrhythmogenic syncope were categorized as symptomatic. Arrhythmic events at follow-up were defined as sudden death, aborted cardiac arrest, documented ventricular fibrillation, and/or sustained ventricular tachycardia. ResultsWe included 615 patients (349 men, 242 probands, 157 with a spontaneous type 1 Brugada electrocardiogram, and 111 symptomatic at baseline). During a median follow-up of 9.5 (Q1,Q3 5.0–14.3) years, arrhythmic events occurred in 41 patients (6.7%), equating an overall event rate of 0.7%/y: 2.0%/y in symptomatic and 0.3%/y in asymptomatic patients. In the overall study population, symptoms at baseline, male sex, and QRS prolongation were identified as independent predictors of arrhythmic events. In asymptomatic patients, male sex and QRS prolongation were also identified as predictors. Asymptomatic women with QRS interval < 100 ms did not experience arrhythmic events at follow-up. ConclusionKey predictors of arrhythmic risk in patients with an SCN5A loss-of-function variant, regardless of a Brugada syndrome diagnosis, are symptoms at baseline, male sex, and prolonged QRS interval. Our findings may enable more tailored management strategies in patients with an SCN5A loss-of-function variant based on their individual risk profiles.

Novel technique and assessment of available 3-dimensional delivery sheath for endomyocardial biopsy during cardiac device implantation

BackgroundEarly cardiomyopathy diagnosis allows timely treatment and may help resolve problems that occur after cardiac implantable electronic device (CIED) implantation. ObjectiveThis study aims to describe a novel technique for endomyocardial biopsy (EMB) using a 3-dimensional (3D) delivery sheath during CIED implantation. In addition, we investigated 3D delivery-sheath characteristics using sheath deflection during bioptome insertion. MethodsThis study of 20 patients undergoing CIED implantation analyzed the EMB success rate and pathologic findings. Fluoroscopic images assessed 3D delivery sheath characteristics before and after bioptome insertion in 3 sheaths. CIEDs were implanted for sick sinus syndrome (n =3), atrioventricular conduction disorder (n = 16), and left ventricular dysfunction (n = 1). Fluoroscopic verification was performed using right anterior oblique (RAO) and left anterior oblique (LAO) views. EMB was performed with Selectra 3D (BIOTRONIK, Berlin, Germany), CSP Locator 3D (Abbott, Chicago, IL), and SSPC (Boston Scientific, Marlborough, MA) (12, 4, and 4 patients, respectively). The distance moved toward the right ventricular apex (RVA) in RAO was defined as Dis-RAO (mm) and that moved toward the RVA in LAO was defined as Dis-LAO (mm). ResultsAmong the 3 sheaths, only the CSP Locator 3D and Selectra 3D showed significant differences in Dis-RAO (13.2 ± 2.0 mm vs 19.8 ± 3.8 mm, P < .01) and Dis-LAO (8.1 ± 1.3 mm vs 15.3 ± 3.9 mm, P < .01). A total of 77 EMB samples from 20 patients were collected without any complication, and 4 patients (20%) were diagnosed with cardiac amyloidosis (CA) based on pathologic findings. ConclusionAll 3D delivery sheaths were safe and effective for performing EMB from the RVS during CIED implantation, enabling early CA diagnosis in 20% of patients.

MITRAL STENOSIS PRESENTATION REVEALING ALARGE LEFT ATRIAL MYXOMA

Introduction: Cardiac myxoma (CM) is the most frequent benign primary cardiac tumor. Around 75% of myxomas originate in the left atrium 20% arise from the right atrium while the remaining 5% are born from both the atria and the ventricle. Atrial myxomas can result in many symptoms: heart failure, systemic or pulmonary embolism, arrhythmias, and conductive disorders, or also constitutional symptoms (such as fever, and weight loss). It largely relies on the tumors size, location, and architecture. It can obstruct the blood flow, mimicking mitral stenosis. The surgical management is the cornerstone of this entity. Case Report: A 63-year-old female with a past medical history of diabetes and arterial hypertension was admitted to our department for palpitations and acute heart failure symptoms.The physical examination revealed an irregular pulse with a tachycardia of 150 bpm. The blood pressure was at 118/80 mmHg. It also revealed lower limb edema, lung crackles, and ascites with a mitral stenosis murmur. EKG showed atrial fibrillation at 150HR . Transthoracic echocardiography found dilated atriums with a large mass in the left atrium causing mitral pseudo stenosis . Discussion: Myxomas are primary cardiac tumors that originate from multipotent mesenchymal cells. They can occur at any age but mostly between 30 and 60 years. The incidence of myxoma in women is 2 to 4 times higher than in men. Clinically, atrial myxomas vary from asymptomatic especially with small tumor size, to non-specific symptoms (dyspnea, lower limb and pulmonary oedema, angina, syncope, and palpitation) and constitutional symptoms such as fever, fatigue, and weight loss. The diagnosis of atrial myxoma based on its presentation is challenging. echocardiography is usually the modality of choice which helps identify the location of the mass whether itÂ’s intra or pericardial, its size, attachment and mobility. Furthermore, it differentiates atrial myxoma from any thrombus or vegetation. Once a presumptive diagnosis of myxoma has been made on imaging studies, prompt resection is required because of the risk of embolization or cardiovascular complications, including sudden death. Conclusion: Myxoma continues to be a significant challenge for emergency physicians due to its non-specific symptoms and overlap with other conditions. The discrepancy between mild symptoms and the serious consequences the condition carries, necessitates high index of suspicion and thorough investigation to timely diagnose it among a long list of differentials.