Cardiological Examination Research Articles

Concealed cardiomyopathy as a frequent cause of idiopathic ventricular fibrillation in a representative Czech cohort of survivors of sudden cardiac arrest (SCA)

Abstract Funding Acknowledgements Type of funding sources: Public grant(s) – National budget only. Main funding source(s): Ministry of Health of the Czech Republic Introduction The complex diagnostic work up in SCA survivors often does not yield a concrete cardiological diagnosis. Moreover, there is conflicting evidence whether genetic testing could support or guide clinical diagnostics. Purpose To assess the molecular architecture of idiopathic ventricular fibrillation in cases without apparent evidence of specific structural or arrhythmic cardiac disease at initial diagnostic work up in a representative Czech cohort. Patients and Methods Between 2013 - 2020 we have ascertained 100 SCA survivors (54 M / 46 F; age range at cardiac arrest 5-69 years). Genetic counselling was followed by massively parallel DNA sequencing using custom-made panels comprising 100 cardiac conditions-related genes. Subsequently, thorough cardiological screening examinations in first degree relatives were carried out. Presence of pathogenic variants was validated by Sanger DNA sequencing and through family segregation analyses. Results Highly likely or certain molecular aetiology (i.e. based on the presence of Class 4 or 5 variants) was disclosed in 20/100 (20%) in PKP2 (3x), SCN5A (4x), RYR2 (3x), TTN (2x), PLN, FLNC, PRKAG2, KCNH2, KCNQ1, SLC4A, TNNT2, and DSP. Interestingly, the KCNE1 p.Asp85Asn (LQT 5 lite) variant, was detected in further 3/100 cases, representing a recognized risk factor for ventricular arrhythmias. Conclusions Genetic testing facilitates stratification of the cause of arrhythmia in a substantial portion of SCA survivors. The utility of positive outcomes of genetic testing was substantiated in 10/20 gene positive patients, where the genetic stratification led to diagnosis of concealed arrhythmogenic cardiomyopathy, whose extent of morphological changes was under the diagnostic sensibility of imaging modalities or ECG. Our results enable individualized care in SCA survivors and assure targeted preventive approaches in their relatives.

Outcomes of post mortem genetic diagnosis in SCD victims and primary prevention of cardiac arrest in relatives: a nationwide multidisciplinary and multicentric collaboration in the Czechia

Abstract Funding Acknowledgements Type of funding sources: Public grant(s) – National budget only. Main funding source(s): Supported by Ministry of Health of the Czech Republic Introduction Post mortem genetic analysis in sudden cardiac death (SCD) represents an important diagnostic tool for the primary prevention of cardiac arrest in victim´s relatives. Purpose To assess the underlying molecular pathogenesis of SCD in a representative Czech cohort and to evaluate the effects of primary prevention of SCD in genetic relatives. Patients and Methods Between 2016 and 2020 we have ascertained 100 SCD cases (29 females/71 males; age range 0-52 years). According to autopsy protocols, cases with SCD were divided into categories of sudden arrhythmic death (SADS), sudden unexplained death (in infants; SUD/SUDI), thoracic aortic aneurysm/dissection and cardiomyopathy hypertrophic, arrhythmic, dilated (HCM, ACM, DCM) and sudden infant death syndrome (SIDS). DNA was isolated from post mortem biopsies / relatives blood and subjected to massively parallel sequencing (Illumina, USA) comprising custom-made candidate gene panel (100 genes). Genetic counselling and cardiological examinations were carried out in 245 family members. Results According to post mortem-established diagnosis, we identified 20 victims with SADS and SUD/SUDI, 11 with HCM and DCM, 19 with ACMG, 8 SIDS cases and 9 acute dissection cases. Most of victims died at sleep or at rest, while only 10/100 victims died during strenuous sport activities. About 50% of SCD victims did not report any apparent cardiac complaints. Highly likely or certain molecular etiology (i.e. based on presence of ACMG.net Class 4 to 5 variants) was disclosed in 19/100 (19%) in RYR2, KCNH2, SCN5A, FLNC (stop), TTN, RBM 20, LMNA/C, PRKAG2, MYBPC3, DSC2, FHL1, TGFBR1 and Col3A1 genes (see Tab). Finally, we identified 52/241 phenotype/genotype positive family members who are at risk of cardiac arrest and were offered corresponding cardiological care. Conclusion Multidisciplinary cooperation, together with centralized and standardized molecular genetic testing, enables the primary prevention of cardiac arrest in relatives of SCD victims. Results of post mortem genetic analysis Post mortem diagnosis Nr. Gender Age (years) Nr. of positive cases (DNA variant class IV or V) Gene Nr. examined relatives/phenotype or genotype positive cases SADS 20 8 females12 males 3-52 5/20 (25%) KCNH2 3x RYR2RANGFR 56/11 SUD/SUDI 20 5 females, 15 males 0-50 1/18 (5%, 2 non informative cases) RYR2 45/9 HCM 11 0 females11 males 14-52 3/11 (27%) MYBPC3FHL1PRKAG2 26/9 DCM 11 3 females8 males 8-48 4/11 (36%) TTN (3x)RBM 20FLNC (stop) 24/7 ACM 19 9 females10 males 17 - 49 4/19 (21%) SCN5AFLNC (stop)DSC2LMNA/C 58/9 SIDS 8 3 females5 males < 1 0/8 - 12/0 Acute dissection 9 1 female8 males 16-49 2/9 (22%) TGFBR1Col3A1 24/7

The Psychopathology, Depression, and Anxiety Levels of Children and Adolescents With Vasovagal Syncope: A Case-Control Study.

Vasovagal syncope constitutes 61% to 80% of syncope cases in the pediatric age group. Syncope is frequently associated with psychopathologies such as depressive disorders, anxiety disorders, somatization disorders, etc. Our study aims to evaluate vasovagal syncope cases in terms of additional psychopathologies, depression, and anxiety levels with a control group. A total of 97 people were included in the study (47 cases and 50 controls). After conducting a cardiological examination, the participants were evaluated for psychopathologies using Kiddie-Sads-Present and Lifetime Version, Child Depression Inventory, and Screen for Child Anxiety Related Emotional Disorders. The case group had a higher rate of psychopathology compared with the control group. Depression, social anxiety disorder, generalized anxiety disorder, separation anxiety, and conversion disorder were significantly higher in the case group than in the control group. Syncope in children can be an underlying psychopathology or the clinical manifestation of a psychosomatic condition. Psychological assessment, which could offer beneficial contributions to the diagnosis and treatment of syncope, was considered necessary for a holistic evaluation of patients.

EFFECTIVE DOSE IN PEDIATRIC INTERVENTIONAL CARDIOLOGY.

The aim of this study was to estimate the effective doses (EDs) to children undergoing pediatric interventional cardiology examinations in hospitals of St.-Petersburg, to calculate associated dose conversion coefficients (DCCs) and to investigate their dependence of different parameters of the various procedures. Basic parameters of pediatric cardiology examinations and patient doses were studied in three main pediatric city hospitals. More than 300 examinations were under consideration. The technical, geometrical and dosimetric parameters, as well as patients' parameters, for each individual procedure were collected. All cardiac examinations were divided into five age groups (newborn, 1, 5, 10 and 15 y old). The EDs and the corresponding DCCs from the dose-area product to ED were calculated using PCXMC 2.0 software and based on the collected data. The study included the evaluation of the relations between the DCCs, patient age and parameters of examinations. The results of the study indicated significant dependence of the DCCs on the patients' age and the beam quality. The DCCs for the newborns and 15-year old groups differed by a factor of 10. The maximum estimated ED of 26mSv was found in the newborn age group.

THE ROLE OF “CLINICAL PRACTICE” DISCIPLINE IN PREPARATION OF FUTURE SPECIALISTS OF HIGHER MEDICAL EDUCATIONAL INSTITUTIONS

Резюме. Клінічна практика студентів-медиків одна із найважливіших складових професійної підготовки будь-якого спеціаліста і є центральним елементом викладання і вивчення навчальної програми. Клінічна практика з терапії є процесом закріплення теоретичних знань, практичних умінь і навичок, отриманих в процесі навчання студента, і формування універсальних та професійних компетенцій майбутнього лікаря-терапевта, сімейного лікаря, лікаря загальної практики, тобто набуття досвіду у вирішенні реальних професійних завдань.
 На кафедрі внутрішньої медицини №2 та медсестринства із 2020-2021 навчального року введена вибіркова дисципліна «Клінічна практика в терапії» для студентів 5 курсу медичного факультету (спеціальність «лікувальна справа», «педіатрія»). Клінічна практика в терапії складається із трьох змістових модулів: «Основні методи обстеження та діагностики в кардіології», «Особливості обстеження та діагностики в ревматології, гастроентерології, нефрології. Діагностика основних інфекційних хворіб», «Клінічна практика в пульмонології, ендокринології, гематології».
 На практичних заняттях велика увага приділяється виконанню практичних навичок і умінню розв’язувати ситуаційні задачі. Студенти вдосконалюють свої навички з фізикального обстеження всіх органів і систем та встановлюють ступінь їх порушення, навчаються реєстрації електрокардіограми, проводити серцево-легеневу реанімацію, пікфлуометрію, аспірацію кісткового мозку, інтерпретувати результати лабораторних та інструментальних методів дослідження, обґрунтовувати та формулювати попередній діагноз, призначити лікування і вибрати подальший маршрут пацієнта залежно від діагностованої патології.

Evaluation of dysfunctional high-density lipoprotein levels with myeloperoxidase/paraoxonase-1 ratio in rheumatoid arthritis.

The aim of this study is to evaluate dysfunctional high-density lipoprotein cholesterol (HDL) by measuring myeloperoxidase (MPO)/paraoxonase 1 (PON1) ratio in patients with rheumatoid arthritis (RA) and to investigate the relationship between dysfunctional HDL and cardiovascular disease (CVD) in RA patients. Sixty-seven healthy individuals and 130 RA patients were included in the study. Routine lipid panels (triglyceride (TG), low-density lipoprotein cholesterol (LDL), HDL, total cholesterol (TC), PON1 and MPO levels were measured. Disease activity scores-28 (DAS28) of RA patients were calculated. Cardiological examination records of the patients were assessed to detect patients who also have CVD. There were no significant differences between RA and control groups in routine lipid profiles (P>.05 for all). MPO/PON1 ratios were significantly elevated in the RA group compared with the control group (P<.001). MPO/PON1 ratios were higher in RA patients with CVD history compared with those without CVD (P<.05). MPO/PON1 ratios were correlated with DAS28 scores (rho: 0.357, P<.001). HDL dysfunction determined by the MPO/PON1 ratio may be associated with the pathophysiology of increased CVD in RA. Thus, evaluating dysfunctional HDL levels by measuring the MPO/PON1 ratio in RA patients may allow more detailed patient follow-up, as well as the reduction of CVD events in RA patients with therapeutic agents aiming to increase the functional properties of HDL by decreasing this ratio.

Alterations of Left Ventricular Function Persisting during Post-Acute COVID-19 in Subjects without Previously Diagnosed Cardiovascular Pathology.

(1) Background: Coronavirus infection (Covid-19) has emerged as a severe medical condition, associated with high pulmonary morbidity and often with cardiovascular (CV) complications. This study aims to evidence the persistence of left ventricular (LV) systolic function (LV-SF) alterations and diastolic dysfunction (DD) in COVID-19 patients without history of cardiovascular (CV) diseases by transthoracic echocardiography (TTE). (2) Methods: 125 patients, aged under 55 years, hospitalized during the first outbreak of Covid-19 for moderate pneumonia, underwent a comprehensive cardiologic examination and TTE at 6–10 weeks after discharge. Their initial in-hospital laboratory data and thorax computer tomography (TCT) were accessed from the electronic database of the hospital. (3) Results: with TTE, we documented alterations of LV-SF and DD in 8.8% of patients and in 16.8% only patterns of DD, statistically correlated with the initial levels of creatin-kinase (CK-MB) and inflammatory factors. Multivariate regression analysis evidenced that CK-MB levels, age, and body mass index (BMI) are responsible for 65% of LV-SF decrease. (4) Conclusions: Alterations of LV-SF and DD are frequent in post-acute COVID-19 infection and are responsible for the persistence of symptoms. Elevated myocardial necrosis markers during the acute phase seem to predict subsequent alteration of cardiac performance.

Evidence of Pulmonary Hypertension after SARS-CoV-2 Infection in Subjects without Previous Significant Cardiovascular Pathology.

Background: Coronavirus (Covid-19) infection represents a serious medical condition, often associated with cardiovascular complications, pulmonary hypertension (PH), and right ventricle dysfunction (RVD). The aim of this study is to show, by means of transthoracic echocardiography (TTE), the presence of an increased estimated systolic pressure in the pulmonary artery (esPAP) and altered right ventricular global longitudinal strain (RV-GLS) in patients without history of PH. Methods: In a group of 91 patients, aged under 55 years, hospitalized for a moderate Covid-19 infection, a thorough cardiologic and TTE examination were performed two months after discharge. Their initial thorax computer-tomography (TCT) images and laboratory data were accessed from the electronic data base of the hospital. Results: We observed an increased prevalence of PH (7.69%) and RVD (10.28%), significantly correlated with the initial levels of the TCT score and inflammatory factors (p ˂ 0.001), but borderline changes were observed in more patients. Multivariate regression analysis showed that these factors and RV-GLS explain 89.5% of elevated esPAP. Conclusions: In COVID-19 infection, PH and RVD are common complications, being encountered after the recovery even in moderate cases. It appears to be a connection between their severity and the extent of the initial pulmonary injury and of the inflammatory response.

Cardio-oncology and Oncohematology: Examination Algorithms, Prophylactic and Treatment of Cardiotoxicity, Trends in Rehabilitation

Successful chemotherapy in the treatment of hematological diseases is determined not only by the efficacy of antitumor drugs, but by the timely correction of adverse events, among which especially important are cardiac complications associated with both already existing cardiovascular diseases and cardiotoxicity of cytostatic drugs. Of particular importance is also a frequent lack of systemic cardiological examination of oncohematological patients. The urgency of this issue was the reason for creating cardio-oncological clinics focused on the closest co-operation of cardiologists with drug chemotherapy experts. Hematological patients are a particular group among chemotherapy recipients. Potential curability of an oncohematological disease and achieving durable MRD-negative remission raise the importance of irreversible or long-term cardiac complications directly affecting the quality of life and life expectancy. Besides, in some cases long-term or life-long administration of certain cardiotoxic antitumor drugs requires a particular cardiological follow-up. A broad variety of cardiotoxic effects of antitumor drugs and peculiarities of their clinical manifestations call for the exact algorithms of cardiological examination to be observed for the timely detection and treatment of cardiovascular complications. The now available st udies and interdisciplinary work of cardiologists and oncologists (oncohematologists) can yield such algorithms for examination and the approaches to prophylactic and treatment of cardiotoxicity as well as to rehabilitation of patients.

Erektil Disfonksiyon Tanı ve Tedavisinde Kardiyoloğun Rolü: Klinik Çalışma

Objective: To evaluate the occurrence of erectile dysfunction (ED) in patients who admit to the cardiology clinic and patients' approach to questioning of erectile status by cardiologists. Material and Methods: The present study was conducted from January 2021 to June 2021 in a prospective manner, and male patients who were admitted to the cardiology outpatient clinic were enrolled in the study. To evaluate erectile status of patients, the International Index of Erectile Function (IIEF-5) form was completed by all patients. In addition, patient opinions about discussing their sexual functions with the cardiologist were evaluated with 4 different options and expectations of patients with ED from the cardiologist were analyzed with five questions. Results: Eventually, 210 patients with mean age 58.3 years were enrolled in the study. In total, 128 (60.9%) patients had IIEF score <21, and 82 (39.1%) patients had IEFF score ≥22. As a result of questioning sexual functions by cardiologists, 12 (5.7%) of the patients felt uncomfortable and 17 (8.1%) patients thought that the cardiologist could not help in this regard. However, 98 (46.7%) patients were satisfied with cardiologist's questioning of sexual functions. However, most patients (94 of 128 patients, 73.4%) reported a negative opinion about the participation of a nurse who specialized in sexual problems during cardiology examination. Conclusion: Our study demonstrated that three out of 5 patients admitted to the cardiology clinic had various levels of undiagnosed ED. In addition, the present study found that patients were satisfied with questioning about ED by a cardiologist.

Analysis of the Early Repolarization in Competitive Athletes: Comparison Between the Notch and The Slur

Early repolarization is currently defined by the presence of notch or slur, at the end of QRS complex, greater ≥ than 0.1 mV in two contiguous leads, and the ST-segment elevation is not necessary for diagnosis. Several studies have confirmed that early repolarization on the electrocardiogram has been associated with an increased risk of sudden arrhythmic death either in the general population or in athletes. However, no study has evaluated the prevalence of this anomaly, using the current definition of early repolarization, in the population of Algerian or North African athletes, no study analyzed notches and slurs separately, and no study compared them. The main objective of our study is to determine the prevalence of ER in an Algerian population of competitive athletes. The secondary objective was to compare the end-QRS Notching and Slurring, and to determine the influence on this prevalence of certain clinical and electrocardiographic parameters, to establish an epidemiological profile of this anomaly. Methods: In our study, we used the current definition of early repolarization. The study population is represented by 621 athletes participating in the various sports competitions organized in the region of Sétif, having undergone a cardiological examination, at the level of the cardiology service of Setif university hospital center, as part of the establishment of a medical certificate of no contraindication to the practice of the sport. Athletes also benefited from a clinical examination (weight, height, cardiac auscultation, functional signs (angina, palpitation, loss of awareness and dyspnea), palpation of the pulse, and measurement of the blood pressure). The electrocardiograms were collected at rest and away from any sporting activity. And in addition to the analysis of ER (prevalence, notch, slur, amplitude, and topography), criteria for ventricular hypertrophy (Sokolow-Lyon index and Cornell index), heart rate, and right bundle branch block were sought and analyzed. Results: The ECG was normal in 29.3% of the athletes, while the majority of athletes (66.3%) had adaptative electrocardiographic abnormalities to regular physical training (minimum of 4 h per week) and competition, 4.3% of athletes had abnormal electrocardiographic patterns suggesting underlying heart disease. The prevalence of ER in our athletes according to the new diagnostic criteria is 26.1%, with a clear male predominance. This prevalence increases with age, peaking in the third decade and then declines. The prevalence of ER is higher in bradycardic athletes and those with a Sokolow-Lyon index greater than 35 mm; for the Cornell index, no relationship was found. Moreover, ER is significantly lower in athletes with incomplete right Branch Block. In our series, ER is predominant in the inferior leads (40.7%) than lateral ones (34.6%), and the double location is found in 24.7%. This distribution of topographies is not influenced by age and gender. 31.8% of ER has an amplitude ≥ of 2 mm. 30.9% of ER is associated with ST-segment elevation. Notch is the predominant pattern whatever the topography of ER is (notch, 57.4%; slur, 18.5%; notch+slur, 24.1%); notch predominates in lateral leads (52.3%) while slur is predominant in inferior leads (68.0%).1%); only the notch has a significant relationship with male sex (23.8% vs 5.7%, p&lt;0.001) with bradycardia (41.4% vs 16%, P&lt;0.001) and with physical training. The prevalence of notches and slurs is significantly higher in athletes with a Sokolow-Lyon index greater than 35 mm. Conclusion: The pattern of ER is frequent in athletes; its prevalence is influenced by age, sex, heart rate, left ventricular hypertrophy, and incomplete right bundle branch block, type of sport, and intensity of the dynamic and static component of sports activity. The inferior topography (considered as a criterion of the high risk of ER) is found the most in our athletes; the notch is the most frequent pattern. It has been found that the two patterns "notch" and "slur", which are the basis of the definition of ER, are not influenced in the same way by the other clinical and electrocardiographic parameters.

Health outcomes and experiences of direct-to-consumer high-intensity screening using both whole-body magnetic resonance imaging and cardiological examination.

BackgroundAlongside a clinical and research setting, whole body magnetic resonance imaging (WB-MRI) is increasingly offered as a direct-to-consumer screening service. Data is needed on the clinical relevance of findings and associated psychological impact of such screening. Therefore, we conducted a prospective follow-up study to provide insight in the effectiveness and psychological impact of direct-to-consumer screening using both WB-MRI and cardiological examination.Methods and findingsThe study population consisted of 3603 voluntary, primarily middle-aged participants who underwent commercial WB-MRI and cardiological screening at one of 6 study clinics in Germany or the Netherlands between July 2014 and March 2016. MRI investigation consisted of directed scans of the brain, neck, abdomen and pelvis. Cardiovascular examination included pulmonary function, resting electrocardiogram, transthoracic echocardiogram and a bicycle exercise stress test. Findings were assessed by experienced radiologists and cardiologists. In addition, participants were inquired about several (psychological) domains, including the expectations and consequences of the screening procedure. Out of 3603 individuals, 402 (11.2%) demonstrated abnormal MRI (n = 381) and/or cardiological findings (n = 79) for which they were advised to undergo further consultation <3 months in regular healthcare. In 59.1% of cases of abnormal MRI findings which were consulted, fully completed consultations were available in 87.1%. After consultation, 77.6% of initial MRI outcomes were adopted. In 40.9% of cases of abnormal MRI findings, recommendations for consultation were not adhered to during the study period. 71.1% of adopted MRI-findings required treatment or monitoring, including 19 malignancies. For abnormal cardiological findings, 70.9% of cases were consulted in regular healthcare. Of these, 91.1% had a completed follow-up procedure of which 72.5% of initial findings were adopted and 83.8% of these findings required treatment or monitoring. The most frequently reported psychological consequences of the screening procedure were getting reassurance (72.0%) and insight into one’s own health status (83.0%). 5.0% reported to feel insecure about their health and 6.2% worried more about their health as a consequence of screening. Main limitations of the study were considered the telephonic follow-up of referred clients and the heterogeneity of screening equipment and assessment of radiologists and cardiologists.ConclusionsDirect-to-consumer screening using whole-body MRI and cardiological testing is feasible and effective for the detection of clinically relevant and treatable abnormalities. Psychological harm was not frequently reported in study participants.

Ictal ECG changes and antiepileptic drug therapy

Abstract Purpose Epileptic seizures may cause severe cardiac arrhythmias. Most people with epilepsy die suddenly and whose death is recognized to a sudden unexpected death in epilepsy (SUDEP). There are controversial reports on the association between polytherapy using antiepileptic drugs and SUDEP. First-line drugs include, in particular, carbamazepine, oxcarbazepine, and lamotrigine, which are sodium channel blockers that may impair heart function. Often a patient requires a combination of antiepileptic drugs Methods 204 patients with epilepsy and were on antiepileptic drugs therapy. The ECG cardiac monitor was implanted in all patients (n=204) and was analyzed together with the preclinical data including age, sex, family history, cardiac risk factors (hypertension, dyslipidemia, diabetes mellitus), heart disease, antiepileptic drug type. Results After a follow-up of 12-month ictal ECG changes (rhythm and conduction disturbances, ST segment abnormalities) were observed in 134 (66%) patients, and only in 70 (34%) – without ictal ECG changes, the average age in these groups was 34,4±9,9 and 36,7±11,8 years (p&amp;gt;0,05). In the group with ictal ECG changes among patients receiving as monotherapy antiepileptic drugs, ictal ECG changes were found in 53.7% of cases, with polytherapy antiepileptic drugs significantly more often – in 71.5% of cases (p&amp;lt;0.05). a reliable association between carbamazepine and changes in sinoatrial and atrioventricular conduction (p=0.01) was significant. In the analyzed group of patients, carbamazepine therapy was also associated with the presence of ictal ST-segment abnormalities (depression/elevation) (p=0.013). A positive association was observed between the administration of oxcarbazepine and development of ictal tachycardia (p=0.04) and ictal right and left bundle branch block, which was observed in 71.4% of cases against the background of oxcarbazepine, significantly more often than with other drugs (p=0.005). Conclusion In agreement with previous publications available in the literature, our results confirm the risk of high-frequency rhythm and conduction disturbances, ST segment abnormalities related to antiepileptic drugs, in particular, carbamazepine and oxcarbazepine and indicates the need of not only cardiological examination before prescribing an antiepileptic drugs, but also a thorough follow-up during the therapy. Patients with ictal ECG changes, primarily rhythm and conduction disturbances, should be under the dynamic control of not only neurologists but also cardiologists and require regular cardiological check-up (ECG, Holter monitoring of the electrocardiogram, echocardiography). Funding Acknowledgement Type of funding source: None

Comparison of variant detection rate in genes between two cohorts of Czech living patients versus victims of sudden cardiac death with clinical / post mortem diagnosis of non-ischemic cardiomyopathy

Abstract Introduction Hereditary cardiomyopathy is associated with an increased risk of ventricular arrhythmia and sudden cardiac death (SCD). Genetic stratification substantiates risk assessment and enables the primary prevention of SCD in relatives at risk. We have analyzed the genetic aetiology of SCD in a representative Czech cohort with post mortem diagnosis of various forms of cardiomyopathy and compared it to living cases with these cardiac disorders. Patients and methods Between 2018 and 2019, altogether 47 victims of SCD with post mortem diagnosis of hypertrophic- (HCM; 18/47), arrhythmogenic- (ACM; 19/47) and dilated cardiomyopathy (DCM; 10/47) were identified. Concurrently, genetic testing was performed in 114 living patients (HCM 54/114, ACM 22/114, DCM 38/114). Genetic counselling and cardiologic examination had been carried out in first-degree relatives in all patients/SCD victims. Massively parallel sequencing (MiSeq platform; Illumina.com) was utilized for a custom-made panel comprising 100 candidate genes (Sophia Genetics, Switzerland). The presence of pathogenic variants was validated by Sanger DNA sequencing and through family segregation analyses. Results The causative detection rate (according to ACMG.net classes 4 or 5) in SCD victims with DCM was 60% (6/10) and in living patients with DCM 47.4% (18/38). Variants in TTN, RBM20, DES and FLNC (mainly truncating variants) prevailed in both groups. The detection rate in ACM was 5% (1/19 in SCN5A gene) in SCD victims and 31.8% (7/22) in living patients. Interestingly, the most prevalent mutated gene PKP2 in living patients was not detected in SCD victims. The detection rate in SCD victims with post mortem diagnosis of HCM was 16% (3/18) and in living patients 35% (19/54). The most prevalent gene was MYBPC3 in both groups, while PRKAG2 was detected in one SCD victim and in one living case who survived cardiac arrest. Conclusion Post-mortem genetic analysis in DCM yields a high detection rate and allows potentially effective primary prevention of SCD in relatives at risk. In contrast, the molecular autopsy of HCM and ACM renders a much lower yield which is below the mutation detection rate in living phenotype positive individuals. The results help to improve the genetic counselling in affected families in Czech Republic. Funding Acknowledgement Type of funding source: Public grant(s) – National budget only. Main funding source(s): Ministry of Health of the Czech Republic

Neuromuscular comorbidity, atrial fibrillation and left bundle branch block predict the prognosis of left ventricular hypertrabeculation/noncompaction

Abstract Background The prognosis of patients with left ventricular hypertrabeculation/noncompaction (LVHT) is controversially assessed. LVHT is frequently associated with neuromuscular disorders (NMDs). Aim of the study was to assess cardiac and neurological findings as predictors of mortality in LVHT-patients. Methods Included were patients with LVHT diagnosed between June 1995 and December 2019 in one echocardiographic laboratory. They underwent a baseline cardiologic examination and were invited for a neurological investigation. In January 2020, their survival status was assessed. Results LVHT was diagnosed in 310 patients (93 female, aged 53±18 years) with a prevalence of 0.4%/year. A neurologic investigation was performed in 205 patients (67%). A specific NMD was found in 33 of the investigated patients (16%), NMDs of unknown etiology in 123 (60%) and the neurological investigation was normal in 49 (24%) patients. During 86 months of follow-up, 59 patients received implanted electronic devices (cardioverter/defibrillator n=21, antibradycardic pacemakers n=11, cardiac resynchronization device/defibrillator n=22, cardiac resynchronization device n=4). During follow-up 105 patients died and 6 patients underwent heart transplantation. The mortality was 4.7%/year. By multivariate analysis, the following baseline parameters were identified as predictors of mortality: increased age (p=0.0005), inpatient-status when LVHT was diagnosed (p=0.0050), presence of a specific NMD (p=0.0187) or NMD of unknown etiology (p=0.0052), atrial fibrillation (p=0.0007) and left bundle branch block (p=0.0168). Conclusions LVHT patients should be systematically investigated neurologically since neurological comorbidity has a prognostic impact. Electrocardiographic abnormalities like atrial fibrillation and left bundle branch block should be considered when planning pharmacotherapy and device-therapy. It has to be assessed by prospective studies, which measures improve the prognosis of LVHT. Funding Acknowledgement Type of funding source: None

Syncope at SARS-CoV-2 onset.

We describe clinical and laboratory findings in 35 patients tested positive for SARS-CoV-2 by reverse transcriptase-polymerase chain reaction on nasopharyngeal swab experiencing one or multiple syncope at disease onset. Clinical neurologic and cardiologic examination, and electrocardiographic findings were normal. Chest computed tomography showed findings consistent with interstitial pneumonia. Arterial blood gas analysis showed low pO2, pCO2, and ratio of arterial oxygen partial pressure to fractional inspired oxygen (PaO2/FiO2) indicating hypocapnic hypoxemia. Patients who presented with syncope showed significantly lower heart rate as compared to 68 SARS-CoV-2 positive that did not. Such poorer than expected compensatory heart rate increase may have led to syncope based on individual susceptibility.We speculate that SARS-CoV-2 could have caused angiotensin-converting enzyme-2 (ACE2) receptor internalization in the nucleus of the solitary tract and other midbrain nuclei, impairing baroreflex and chemoreceptor response, and inhibiting the compensatory tachycardia during acute hypocapnic hypoxemia.

Marfan syndrome in children: correlation between musculoskeletal features and cardiac Z-score

We investigated the correlation between the musculoskeletal features and the cardiovascular anomalies in pediatric patients affected by Marfan syndrome, in order to identify possible orthopedic deformities that could be a warning sign for severe aortic dilatation. Moreover, we analyzed the role of the orthopedic aspects in the early diagnosis of the disease in a pediatric population. Seventy-two patients from 3 to 14 years of age, underwent interdisciplinary evaluation that included an orthopedic and cardiological examination. At the orthopedic examination, we analyzed the musculoskeletal features included in the systemic score of the revised Ghent criteria. Cardiological evaluation included a transthoracic echocardiography with definition of the cardiac Z-score, which is an index that evaluates aortic diameter. A statistical analysis was performed. We identified a statistically significant correlation between the presence of pectus excavatum and cardiac Z-score ≥3 (P = 0.022). Clinically, this data means that pectus excavatum is frequently observed in patients with larger aortic root diameter. On the contrary, no statistically significant correlation was found between the other investigated musculoskeletal features and a pathological Z-score. In the pediatric population, the diagnosis of Marfan syndrome remains difficult because many clinical manifestations are age-dependent and the Ghent criteria, usually used for adults, are not reliable in children. Our results show that the presence of pectus excavatum could help in the early identification of patients at greater risk of developing possibly fatal aortic disease. However, it is always indicated to screen all patients with Marfan syndrome for cardiac abnormalities, even in absence of pectus excavatum.

ANMCO POSITION PAPER: The cardiological clinical activities in the transition phase of the COVID-19 pandemic.

Infections by SARS CoV2 - COVID-19 became in a short time a worldwide health emergency. The present SARS-CoV-2 pandemic induced in a short time, an unprecedented impact on public health and on the pre-existing care pathways. In order to appropriately address this epidemiological emergency, urgent solutions were needed, such as remodelling or stopping hospitalization and deferrable clinical activities to avoid spreading the SARS-CoV-2 infection. After the first emergency lockdown phase, care pathways must guarantee healthcare to patients and preserve the safety of the healthcare personnel and of all the other subjects that refer to the cardiological surgeries. Rigorous prescriptive appropriateness of the requested exams with consequent reduction of unnecessary examinations is an essential requirement to preserve prioritized diagnostic and care pathways to patients in need, minimizing the risks connected to the SARS-CoV-2 contagion in hospitals. Telemedicine services represent a valid answer to cardiovascular disease patients’ need for care and assistance, including those in quarantine and voluntary isolation. These services successfully contribute to fight the spread of the virus guaranteeing at the same time therapy and support through remote services that must therefore be considered a resource to be implemented and enhanced. This document has to be used by the healthcare personnel working in hospitals and in district offices, if applicable, and aims at managing patients, in complete safety and considered not suspect/not probable (‘not at risk’) of SARS-CoV-2 infection, eligible for diagnostic activity and subsequent therapy in outpatient surgeries. In particular, this document provides indications for patient evaluation to prevent COVID-19 exposure, gives general indications on managing appointments and waiting rooms, on how to strictly adhere to environmental safety measures, on the proper use of Individual Protective Equipment (IPE). It also provides specific indications for outpatient service procedures, like electrocardiogram, cardiologic examination, cardiologic checkup, Dynamic Holter Electrocardiogram, Transthoracic Echocardiography, Echo Stress, Transoesophageal Echocardiography, Bike Ergometer stress test, Ergospirometry, Outpatient Checkup of implantable electronic cardiac devices.

ARRHYTHMIAS, PACING, ABLATIONC1 A DEPENDENT SYNCOPE

Abstract A 33-year-old man, ex drug addict on methadone therapy. He arrives to emergency department for syncope, reported by his wife reversion of the eyeballs and fine tremors with subsequent recovery of consciousness. A similar episode had happened a year ago. It was performed ECG: sinus bradycardia , 45 bpm, QT 600 msec, QTc 554 msec . Neurological examination performed: no motor deficits, negative Romberg. At brain CT no parenchymal tomodensitometric changes. Median line structures in axis. At the EEG: slight diffuse slow intercritical changes. Prescribed therapy with levetiracetam 500 mg. Cardiological examination and echocardiogram performed within the limits. Laboratory tests showed Trop HS 80 pg / ml. On the basis of the ECG and the slight increase of the troponin he was hospitalized in Cardiology and monitored. The following day, cardiac arrest due to torsade de pointes degenerated into ventricular fibrillation, DC shock was performed with the restoration of electrical and mechanical activity. Urgent coronary angiography was performed with evidence of coronary artery free from angiographically significant stenosis. SERT has been contacted: the patient had not been treated by them for some time and was using excessive doses of self-procuring methadone. In consideration of cardiac arrest from methadone long QT ventricular arrhythmia, ICD implantation was proposed, refused by the patient because he wanted to start detoxification therapy. During the hospitalization, progressive reduction of QT up to normalization in discharge. After a month new access to emergency department for presynopal episode, ECG showed sinus bradycardia with QTC 552 msec; the patient reports continuing to take excessive methadone doses and refuses treatment at a recovery center; considering that the ICD can be life-saving in this typ77e of patient (intractable addiction), we have re-proposed the ICD implant, rejected by the patient.

Better adherence with out-of-hospital healthcare improved long-term prognosis of acute coronary syndromes: Evidence from an Italian real-world investigation

BackgroundPatients who experience a hospital admission for acute coronary syndromes (ACS) exhibit poor prognosis over the years. The purposes of this study were to evaluate the real-world patterns of out-of-hospital practice in the management of ACS patients and to assess their impact on the risk of selected outcomes. MethodsThe cohort of 87,530 residents in the Lombardy Region (Italy) who were newly hospitalised for ACS during 2011–2015 was followed until 2018. Exposure to medical treatment including use of selected drugs, diagnostic procedures and laboratory tests was recorded. The main outcome of interest was re-hospitalisation for cardiovascular (CV) outcomes. Proportional hazards models were fitted to estimate hazard ratio, and 95% confidence intervals (CI), for the exposure-outcome association. Analyses were stratified according to the ACS type. ResultsThe cumulative incidence of re-hospitalisation for CV disease was 33%, 42% and 38% at 5 years after index discharge among STEMI, NSTEMI and unstable angina patients. Within one year from index discharge, between 70% and 80% of patients had at least a prescription of statins, beta-blockers and renin–angiotensin-system blocking agents, underwent ECG and lipid profile examination, and had a cardiologic examination. One patient in five underwent cardiac rehabilitation. Compared with patients who did not adhere to healthcare recommendations, the risk of CV hospital readmission was reduced from 10% (95% CI: 4%–10%) to 23% (12%–32%) among patients who underwent lipid profile examinations and who experienced cardiac rehabilitation. ConclusionClose out-of-hospital healthcare must be considered the cornerstone for improving the long-term prognosis of ACS patients.