Rare Cardiovascular Disease Research Articles

The diagnostic value of electrocardiogram-based machine learning in long QT syndrome: a systematic review and meta-analysis.

To perform a meta-analysis to discover the performance of ML algorithms in identifying Congenital long QT syndrome (LQTS). The searched databases included Cochrane, EMBASE, Web of Science, and PubMed. Our study considered all English-language studies that reported the detection of LQTS using ML algorithms. Quality was assessed using QUADAS-2 and QUADAS-AI tools. The bivariate mixed effects models were used in our study. Based on genotype data for LQTS, we performed a subgroup analysis. Out of 536 studies, 8 met all inclusion criteria. The pooled area under the receiving operating curve (SAUROC) for detecting LQTS was 0.95 (95% CI: 0.31-1.00); sensitivity was 0.87 (95% CI: 0.83-0.90), and specificity was 0.91 (95% CI: 0.88-0.93). Additionally, diagnostic odd ratio (DOR) was 65 (95% CI: 39-109). The positive likelihood ratio (PLR) was 9.3 (95% CI: 7.0-12.3) and the negative likelihood ratio (NLR) was 0.14 (95% CI: 0.11-0.20), with very low heterogeneity (I2 = 16%). We found that machine learning can be used to detect features of rare cardiovascular disease like LQTS, thus increasing our understanding of intelligent interpretation of ECG. To improve ML performance in the classification of LQTS subtypes, further research is required. identifier PROSPERO CRD42022360122.

Testosterone is positively associated with coronary artery calcium in a low cardiovascular disease risk population.

In industrialized populations, low male testosterone is associated with higher rates of cardiovascular mortality. However, coronary risk factors like obesity impact both testosterone and cardiovascular outcomes. Here, we assess the role of endogenous testosterone on coronary artery calcium in an active subsistence population with relatively low testosterone levels, low cardiovascular risk and low coronary artery calcium scores. In this cross-sectional community-based study, 719 Tsimane forager-horticulturalists in the Bolivian Amazon aged 40+ years underwent computed tomography (49.8% male, mean age 57.6 years). Coronary artery calcium levels were low; 84.5% had no coronary artery calcium. Zero-inflated negative binomial models found testosterone was positively associated with coronary artery calcium for the full sample (Incidence Rate Ratio [IRR] = 1.477, 95% Confidence Interval [CI] 1.001-2.170, P = 0.031), and in a male-only subset (IRR = 1.532, 95% CI 0.993-2.360, P = 0.053). Testosterone was also positively associated with clinically relevant coronary atherosclerosis (calcium >100 Agatston units) in the full sample (Odds Ratio [OR] = 1.984, 95% CI 1.202-3.275, P = 0.007) and when limited to male-only sample (OR = 2.032, 95% CI 1.118-4.816, P = 0.024). Individuals with coronary artery calcium >100 had 20% higher levels of testosterone than those with calcium <100 (t = -3.201, P = 0.007). Among Tsimane, testosterone is positively associated with coronary artery calcium despite generally low normal testosterone levels, minimal atherosclerosis and rare cardiovascular disease (CVD) events. Associations between low testosterone and CVD events in industrialized populations are likely confounded by obesity and other lifestyle factors.

Sinus of Valsalva Aneurysm in Females.

Sinus of Valsalva aneurysm (SVA) is a rare cardiovascular disease with male predominance. Recently, an association with aortic aneurysm and SVA has been revealed in periventricular nodular heterotopia patients with loss-of-function Filamin A (FLNA) mutations, which were located on chromosome X and almost exclusively affect females.Among patients hospitalized for aortic surgery with aortic root diameter over 4.0 cm, next-generation sequencing was performed to investigate 30 candidate genes related to inherited aortic aneurysm syndromes and familial thoracic aortic aneurysm and dissection. The present report reviewed an electronic case database and identified two female cases of unruptured SVA with heterozygous FLNA truncating mutations.Case 1 displaying a rare SVA phenotype involving left and noncoronary sinus harbored a nonsense variant p.Tyr1720Ter/c.5160C > G. Case 2 displayed right and noncoronary SVA with predominantly enlarged right coronary sinus, posterior mitral valve prolapse, and harbored a frameshift variant p.Val1724fs*68/c.5171_5172delTG. Both novel mutations resulted in the premature termination of filamin A with the loss of functional Rod 2 and dimerization region.The present report raised the possibility of the presence of a cardiovascular onset form in the spectrum of FLNA hereditary diseases. The association between SVA and loss-of-function FLNA mutations indicates a unique etiology and pathogenesis among female patients, which requires further investigation to establish the linkage between FLNA variants and a wide spectrum of phenotypes.

Is There a Role for Genetic Testing in Patients With Myocarditis?

HomeCirculation: Genomic and Precision MedicineVol. 15, No. 5Is There a Role for Genetic Testing in Patients With Myocarditis? No AccessArticle CommentaryRequest AccessFull TextAboutView Full TextView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissionsDownload Articles + Supplements ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toSupplemental MaterialNo AccessArticle CommentaryRequest AccessFull TextIs There a Role for Genetic Testing in Patients With Myocarditis? Emanuele Monda and Giuseppe Limongelli Emanuele MondaEmanuele Monda https://orcid.org/0000-0001-9304-988X Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Naples, Italy (E.M., G.L.). Search for more papers by this author and Giuseppe LimongelliGiuseppe Limongelli Correspondence to: Giuseppe Limongelli, MD, PhD, FESC Inherited and Rare Cardiovascular Disease Clinic Department of Translational Medical Sciences University of Campania “Luigi Vanvitelli” Via L. Bianchi 1 c/o Monaldi Hospital, AORN Colli Naples, 80131 Italy. Email E-mail Address: [email protected] https://orcid.org/0000-0002-8291-9517 Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Naples, Italy (E.M., G.L.). Institute of Cardiovascular Sciences, University College of London and St. Bartholomew’s Hospital, London, United Kingdom (G.L.). Search for more papers by this author Originally published29 Sep 2022https://doi.org/10.1161/CIRCGEN.122.003824Circulation: Genomic and Precision Medicine. 2022;15FootnotesThe opinions expressed in this article are not necessarily those of the editors or of the American Heart Association.Supplemental Material is available at https://www.ahajournals.org/doi/suppl/10.1161/CIRCGEN.122.003824For Sources of Funding and Disclosures, see page 478.Correspondence to: Giuseppe Limongelli, MD, PhD, FESC Inherited and Rare Cardiovascular Disease Clinic Department of Translational Medical Sciences University of Campania “Luigi Vanvitelli” Via L. Bianchi 1 c/o Monaldi Hospital, AORN Colli Naples, 80131 Italy. Email [email protected]it

Cardiovascular disease detection from high utility rare rule mining

We propose a method to search rare cardiovascular disease symptom rules from historical health examination records according to its hazard ratio utility and further detect the disease given new medical record data. Further, we aim to assist both medical experts and patients by alerting the current symptoms and preparing the early treatments. In general, the proposed method first deals with the uncertainty of age and other continuous features using a fuzzy set. Next, we define the hazard ratio utility of each item set to assist the mining process. Based on the utility, we discover the rare cardiovascular disease patterns employing High Utility Rare Itemset Mining. At last, we add a prediction step to check the given health record data whether diagnosed cardiovascular. Subsequently, we can obtain rare symptoms of cardiovascular disease, which are later applied to detect the new related record data. The rare symptoms that are confirmed by their utility risk for cardiovascular disease can assist the medical experts' decision better than the common symptoms as it is often hard to be recognized at a glance. The proposed method evaluated on a public cardiovascular dataset. The experimental results showed that the generated rare cardiovascular disease patterns successfully applied to detect the cardiovascular given the symptoms data.

Cluster-Based Ensemble Learning Model for Aortic Dissection Screening.

Aortic dissection (AD) is a rare and high-risk cardiovascular disease with high mortality. Due to its complex and changeable clinical manifestations, it is easily missed or misdiagnosed. In this paper, we proposed an ensemble learning model based on clustering: Cluster Random under-sampling Smote–Tomek Bagging (CRST-Bagging) to help clinicians screen for AD patients in the early phase to save their lives. In this model, we propose the CRST method, which combines the advantages of Kmeans++ and the Smote–Tomek sampling method, to overcome an extremely imbalanced AD dataset. Then we used the Bagging algorithm to predict the AD patients. We collected AD patients’ and other cardiovascular patients’ routine examination data from Xiangya Hospital to build the AD dataset. The effectiveness of the CRST method in resampling was verified by experiments on the original AD dataset. Our model was compared with RUSBoost and SMOTEBagging on the original dataset and a test dataset. The results show that our model performed better. On the test dataset, our model’s precision and recall rates were 83.6% and 80.7%, respectively. Our model’s F1-score was 82.1%, which is 4.8% and 1.6% higher than that of RUSBoost and SMOTEBagging, which demonstrates our model’s effectiveness in AD screening.

Solving the class imbalance problem using ensemble algorithm: application of screening for aortic dissection

BackgroundImbalance between positive and negative outcomes, a so-called class imbalance, is a problem generally found in medical data. Despite various studies, class imbalance has always been a difficult issue. The main objective of this study was to find an effective integrated approach to address the problems posed by class imbalance and to validate the method in an early screening model for a rare cardiovascular disease aortic dissection (AD).MethodsDifferent data-level methods, cost-sensitive learning, and the bagging method were combined to solve the problem of low sensitivity caused by the imbalance of two classes of data. First, feature selection was applied to select the most relevant features using statistical analysis, including significance test and logistic regression. Then, we assigned two different misclassification cost values for two classes, constructed weak classifiers based on the support vector machine (SVM) model, and integrated the weak classifiers with undersampling and bagging methods to build the final strong classifier. Due to the rarity of AD, the data imbalance was particularly prominent. Therefore, we applied our method to the construction of an early screening model for AD disease. Clinical data of 523,213 patients from the Institute of Hypertension, Xiangya Hospital, Central South University were used to verify the validity of this method. In these data, the sample ratio of AD patients to non-AD patients was 1:65, and each sample contained 71 features.ResultsThe proposed ensemble model achieved the highest sensitivity of 82.8%, with training time and specificity reaching 56.4 s and 71.9% respectively. Additionally, it obtained a small variance of sensitivity of 19.58 × 10–3 in the seven-fold cross validation experiment. The results outperformed the common ensemble algorithms of AdaBoost, EasyEnsemble, and Random Forest (RF) as well as the single machine learning (ML) methods of logistic regression, decision tree, k nearest neighbors (KNN), back propagation neural network (BP) and SVM. Among the five single ML algorithms, the SVM model after cost-sensitive learning method performed best with a sensitivity of 79.5% and a specificity of 73.4%.ConclusionsIn this study, we demonstrate that the integration of feature selection, undersampling, cost-sensitive learning and bagging methods can overcome the challenge of class imbalance in a medical dataset and develop a practical screening model for AD, which could lead to a decision support for screening for AD at an early stage.

A complex unit for a complex disease: the HCM-Family Unit.

Hypertrophic cardiomyopathy (HCM) is a group of heterogeneous disorders that are most commonly passed on in a heritable manner. It is a relatively rare disease around the globe, but due to increased rates of consanguinity within the Kingdom of Saudi Arabia, we speculate a high incidence of undiagnosed cases. The aim of this paper is to elucidate a systematic approach in dealing with HCM patients and since HCM has variable presentation, we have summarized differentials for diagnosis and how different subtypes and genes can have an impact on the clinical picture, management and prognosis. Moreover, we propose a referral multi-disciplinary team HCM-Family Unit in Saudi Arabia and an integrated role in a network between King Faisal Hospital and Inherited and Rare Cardiovascular Disease Unit-Monaldi Hospital, Italy (among the 24 excellence centers of the European Reference Network (ERN) GUARD-Heart). Graphical Abstract.

Integrated Bioinformatics Analysis Reveals Marker Genes and Potential Therapeutic Targets for Pulmonary Arterial Hypertension.

Pulmonary arterial hypertension (PAH) is a rare cardiovascular disease with very high mortality rate. The currently available therapeutic strategies, which improve symptoms, cannot fundamentally reverse the condition. Thus, new therapeutic strategies need to be established. Our research analyzed three microarray datasets of lung tissues from human PAH samples retrieved from the Gene Expression Omnibus (GEO) database. We combined two datasets for subsequent analyses, with the batch effects removed. In the merged dataset, 542 DEGs were identified and the key module relevant to PAH was selected using WGCNA. GO and KEGG analyses of DEGs and the key module indicated that the pre-ribosome, ribosome biogenesis, centriole, ATPase activity, helicase activity, hypertrophic cardiomyopathy, melanoma, and dilated cardiomyopathy pathways are involved in PAH. With the filtering standard (|MM| > 0.95 and |GS| > 0.90), 70 hub genes were identified. Subsequently, five candidate marker genes (CDC5L, AP3B1, ZFYVE16, DDX46, and PHAX) in the key module were found through overlapping with the top thirty genes calculated by two different methods in CytoHubb. Two of them (CDC5L and DDX46) were found to be significantly upregulated both in the merged dataset and the validating dataset in PAH patients. Meanwhile, expression of the selected genes in lung from PAH chicken measured by qRT-PCR and the ROC curve analyses further verified the potential marker genes’ predictive value for PAH. In conclusion, CDC5L and DDX46 may be marker genes and potential therapeutic targets for PAH.

Promise and Peril of Population Genomics for the Development of Genome-First Approaches in Mendelian Cardiovascular Disease.

The rich tradition of cardiovascular genomics has placed the field in prime position to extend our knowledge toward a genome-first approach to diagnosis and therapy. Population-scale genomic data has enabled exponential improvements in our ability to adjudicate variant pathogenicity based on allele rarity, and there has been a significant effort to employ these sizeable data in the investigation of rare disease. Certainly, population genomics data has great potential to aid the development of a genome-first approach to Mendelian cardiovascular disease, but its use in the clinical and investigative decision making is limited by the characteristics of the populations studied, and the evolutionary constraints on human Mendelian variation. To truly empower clinicians and patients, the successful implementation of a genome-first approach to rare cardiovascular disease will require the nuanced incorporation of population-based discovery with detailed investigation of rare disease cohorts and prospective variant evaluation.

An early aortic dissection screening model and applied research based on ensemble learning.

BackgroundAs a particularly dangerous and rare cardiovascular disease, aortic dissection (AD) is characterized by complex and diverse symptoms and signs. In the early stage, the rate of misdiagnosis and missed diagnosis is relatively high. This study aimed to use machine learning technology to establish a fast and accurate screening model that requires only patients’ routine examination data as input to obtain predictive results.MethodsA retrospective analysis of the examination data and diagnosis results of 53,213 patients with cardiovascular disease was conducted. Among these samples, 802 samples had AD. Forty-two features were extracted from the patients’ routine examination data to establish a prediction model. There were five ensemble learning models applied to explore the possibility of using machine learning methods to build screening models for AD, including AdaBoost, XGBoost, SmoteBagging, EasyEnsemble and XGBF. Among these, XGBF is an ensemble learning model that we propose to deal with the imbalance of the positive and negative samples. The seven-fold cross validation method was used to analyze and verify the performance of each model. Due to the imbalance of the samples, the evaluation indicators were sensitivity and specificity.ResultsComparative experiments showed that the sensitivity of XGBF was 80.5%, which was better than the 16.1% of AdaBoost, 15.7% of XGBoost, 78.0% of SmoteBagging and 77.8% of EasyEnsemble. Additionally, XGBF had relatively high specificity, and the training time consumption was short. Based on these three indicators, XGBF performed best, and met the application requirements, which means through careful design, we can use machine learning technology to achieve early AD screening.ConclusionsThrough reasonable design, the ensemble learning method can be used to build an effective screening model. The XGBF has high practical application value for screening for AD.

Resolution of post-anaesthesia aortic regurgitation by repair of a ruptured sinus of Valsalva aneurysm: 5 case reports

BackgroundRuptured sinus of Valsalva aneurysm (SVA) is a rare cardiovascular disease in which some patients exhibit aortic valve insufficiency. SVA repair and valve replacement are usually required for treatment. Here, we report 5 cases of ruptured SVA with severe post-anaesthesia aortic regurgitation (AR). To the best of our knowledge, this is the first report of ruptured SVA with severe post-anaesthesia AR.Case presentation:From 2018 to 2020, there were 5 cases of ruptured SVA with severe AR after anaesthesia in our hospital. The main symptoms were palpitation and shortness of breath. Transthoracic echocardiography (TTE) with colour-flow Doppler showed ruptured aortic sinus aneurysms without AR. Post-anaesthesia echocardiography showed severe AR. Direct patch closure of the ruptured aneurysm resolved the left-to-right shunt and AR, and the aortic valve was not replaced.ConclusionsPost-anaesthesia AR without obvious structural defects may occur in patients with ruptured SVAs. Valve replacement may not be necessary.

CASE REPORT ON THE SUCCESSFUL USE OF A NEW SELECTIVE PROSTACYCLIN IP RECEPTOR AGONIST, SELEXIPAG, IN A PATIENT WITH IDIOPATHIC PULMONARY HYPERTENSION

Idiopathic pulmonary arterial hypertension (IPAH) is a rather rare cardiovascular disease of unknown origin and, at the same time, the most common form of pulmonary arterial hypertension (PAH). It is characterized by increased mean pulmonary artery pressure of ≥ 25 mm Hg and increased pulmonary vascular resistance of &gt; 3 Wood units. One of the key components of IPH pathogenesis is the disorder in the prostacyclin pathway leading to hypertrophy of the smooth muscle and endothelial cells, fibrotic changes, inflammatory response and vasoconstriction, which results in small artery and arteriole remodeling. For severe cases of PAH, in Russia only used one drug acting on the prostacyclin pathway, i.e., iloprost for inhalation. However, this therapy has a number of restrictions on the use. Selexipag is the first selective oral prostacyclin IP-receptor agonist intended for the treatment of patients with PAH. The efficacy and safety of Selexipag in patients with PAH were investigated in GRIPHON study, the largest-scale clinical trial ever conducted in patients with pulmonary hypertension. The publication presents a case of successful use of Selexipag as a part of the combination therapy in a patient with IPAH.

Research progress of infant pulmonary artery sling

The pulmonary artery sling (PAS) is a rare congenital cardiovascular disease and usually associated with airway stenosis and cardiovascular anomalies.Abnormal left pulmonary artery oppress trachea and esophagus can cause respiratory tract obstruction or esophageal compression symptoms, such as recurrent wheezing, cough, lung infections, difficulty of breathing or swallowing.Once diagnosed, the patients has surgical indications, but due to the lack of specific clinical manifestations, missed diagnosis or misdiagnosis for other respiratory diseases may occur.The surgical method of PAS is mainly the left pulmonary transplantation, whether perform tracheoplasty remains controversial. Key words: Pulmonary artery sling; Tracheal stenosis; Progress

CLINICAL CASE OF COMBINATION THERAPY INCLUDING AMBRIZENTAN IN THE PATIENT WITH SEVERE IDIOPATHIC PULMONARY ARTERIAL HYPERTENSION

Idiopathic pulmonary hypertension (IPAH) is a rare cardiovascular disease of unknown etiology, but the most common form of pulmonary arterial hypertension, defined as mean pulmonary arterial pressure &gt;25 mmHg and pulmonary vascular resistance &gt;3 Wood Units. Endothelial dysfunction seems to play an integral role in the pathogenesis of IPAH: the activation of endothelin-1 causes the hypertrophy of smooth muscle cells and endothelial cells, fibrotic changes, immune inflammation and vasoconstriction which leads to small pulmonary arteries and arterioles remodeling. The endothelial system activation is the reason for using endothelin receptor antagonists (ERA) to block the endothelin receptors type A (ETA) or both types (ETA, ETB). ERA, as the main class of PAH-specific therapy, is presented by bosentan and macitentan, dual endothelin receptor antagonists, and ambrisentan, non-sulfonamide, ETA-selective ERA. This clinical case demonstrates the successful treatment with ambrisentan as the part of combination therapy in the patient with severe IPAH.

CLINICAL CASE OF SUCCESSFUL 10-YEAR AMBRIZENTAN TREATMENT OF THE PATIENT WITH IDIOPATHIC PULMONARY ARTERIAL HYPERTENSION

Idiopathic pulmonary arterial hypertension (IPAH) is a rare cardiovascular disease of unknown etiology, characterized by pulmonary vascular resistance (PVR) and pulmonary artery pressure (PAP) increase due to pronounced remodeling of small pulmonary arteries and arterioles, with progressive deterioration and the rapid development of right ventricle failure. The key pathogenetic feature is the endothelial dysfunction, which leads to the development of vasoconstriction, thrombosis in situ, proliferative and inflammatory changes in the lung microvasculature. Optimization of drug therapy is associated with the clinical implementation of highly effective pathogenetic drugs which act on the main disease targets - activation of endothelin-1 (ET-1) system, the lack of endogenous prostacyclin and nitric oxide. The role of ET-1 as a powerful vasoconstrictor that induces cell proliferation and differentiation, production of cytokines, growth factors, biologically active substances. Endothelin receptor antagonists (ERA) represents the important class of PAH-specific therapy, including two non-selective ERAs-nonselective bosentan and selective ambrizentan. Presented clinical case demonstrates the long-term reliable efficacy and safety of ambrizentan for 10 years in the IPAH patient with the baseline functional class III (WHO).

Missed Connections; A High Pressure Situation

SESSION TITLE: Pediatrics and Congenital Cases SESSION TYPE: Affiliate Case Report Slide PRESENTED ON: Tuesday, October 27, 2015 at 07:30 AM - 08:30 AM INTRODUCTION: Congenital heart defects (CHD) may be diagnosed in utero, in the neonatal period, childhood, and less commonly in adulthood. We present a rare case manifesting in the fourth decade of life. CASE PRESENTATION: A 31 year-old athletic female with no significant past medical history presented with an insidious onset of symptoms including dyspnea on exertion in unusual situations like eating and being at high altitudes. She was an avid runner and recently ran a half marathon. An abnormal cardiac examination prompted an echocardiogram (ECHO) which suggested pulmonic valve stenosis, right ventricular (RV) dilatation and, mildly elevated RV pressure. PFT was normal and cardio-pulmonary exercise testing was inconclusive. Further evaluation with Cardiac MRI revealed severely dilated RV and a superior sinus venosus - atrial septal defect (ASD) with partial anomalous pulmonary venous return (PAPVR) of the right upper and middle lobe veins into the right superior vena cava (SVC) and a persistent left SVC. The shunt fraction was elevated at 2.0. While relatively asymptomatic, the high cardiac risk with planned pregnancy led to referral for surgical correction. She underwent closure of ASD and repair of PAPVR and left SVC. DISCUSSION: PAPVR is an extremely rare cardiovascular disease with abnormal return of one or more pulmonary veins directly or indirectly to the right atrium with an incidence of 0.7%. It is commonly associated with other defects like ASD (~80%) and Turner syndrome. Right upper or middle pulmonary veins are more commonly involved. Most patients are symptomatic with dyspnea on exertion and fatigue and present earlier in life. Some patients with PAPVC presents late as they eventually develop right-sided volume overload that leads to PAH and RV failure. Diagnostic workup includes ECHO which suggests unexpected right atrial or ventricular enlargement and sometimes less than 4 pulmonary veins seen entering the left atrium. Cardiac MRI is being increasingly used for diagnosis for visualization of defect and estimating shunt fraction. Elevated shunt fraction (>2) predisposes patient's to symptoms and recurrent infection. Surgical correction is the definitive treatment and is often recommended for select patients. CONCLUSIONS: This specific case highlights a rare and late presentation of CHD, attributable to our patient's superb physical conditioning and illustrates evaluation and indications for definitive surgical management of PAPVR. Reference #1: Tourmousoglou et al. Right upper lobe PAPVR Case Rep Vasc Med Feb 2014 DISCLOSURE: The following authors have nothing to disclose: Michael Warner, Puneet Agarwal, Daniel Fitelson, Ajeet Vinayak No Product/Research Disclosure Information

Clinical efficacy and safety of transcatheter closure of ruptured sinus of valsalva aneurysm

To evaluate the clinical efficacy and safety of transcatheter closure (TCC) in patients with ruptured sinus of Valsalva aneurysm (RSVA). RSVA is a rare cardiovascular disease with a varied clinical presentation. The clinical efficacy and safety of TCC for RSVA still remain an ongoing concern. From January 2009 to March 2013, 22 patients with RSVA were selected for TCC. Intracardiac pressure and size of cardiac chamber were measured before and post TCC. All patients were followed up by transthoracic echocardiography at 1, 3, 6, 12 months after procedure. RSVA was successfully occluded in 20 patients (19 cases with Amplatzer duct occluder and one with muscular ventricular septal defect occluder). Aortic root angiography showed no shunt in 18 cases and a small residual shunt in two cases. The pressures in the right atrium, right ventricle, and pulmonary artery were significantly decreased after the procedure (P < 0.01), and the aortic pressure was elevated (P < 0.001). The internal diameters of the right atrium, left atrium, and left ventricle were also significantly declined after the procedure (P < 0.05). No complications were found after 18.5 ± 6.5 (range 3-35) months follow-up. Two patients underwent acute surgical aortic valve replacement because of procedure-related aortic valve regurgitation. Our results indicate that TCC is a promising alternative therapy to surgery in appropriate patients with RSVA. However, rare but severe procedure-related complications should be considered in the risk assessment.

Journal of Rare Cardiovascular Diseases: All that glitters is not gold. Randomized Controlled Trails versus real‑life patients: Challenges of a maturing Journal

Journal of Rare Cardiovascular Diseases: All that glitters is not gold. Randomized Controlled Trails versus real‑life patients: Challenges of a maturing Journal

Journal of Rare Cardiovascular Diseases: Another exciting quarter in the ‘usual’ life of the Journal

Dear Friends and Colleagues, Our Dear Readers and Supporters of the Journal, It is an extreme pleasure to deliver at your hand the 7th issue of the Journal of Rare Cardiovascular Diseases. Our two‑year anniversary has not arrived yet, so one might consider this a ‘usual’ issue. The list of the topics covered, however, shows clearly that our every‑day‘usual’ continues to be, as you will see, unusual. In contrast to the (mostly) well‑explored fields of common cardiovascular disease, in rare cardiovascular disease (RCD) patients nothing is ever ‘typical’ or ‘usual’. This issue brings, again, an exciting mixture of the advancements in rare cardiovascular disease research and reports on everyday clinical issues that the physician taking care of RCD patients is faced with. I would like to encourage you to start with reading a brief review on type 2 Long QT Syndrome, under the seemingly strange title: ‘Can an alarm clock really kill?’ (yes, it can – you will learn through what particular mechanism and how this can be prevented). The original paper in this issue provides new data on the different biochemical profile of patients presenting with heart failure of different aetiologies. This work indicates novel potential mechanisms of heart failure worsening, leading to the acute admissions in different patient groups. It will no doubt be of interest to heart failure clinicians and researchers. This issue of the Journal brings also four, very different, RCD patient reports. Dr Nelya Oryshchyn and colleagues from the Lviv Medical University discuss in detail a rare cause of the left ventricular outflow tract obstruction caused by accessory mitral valve tissue. Dr Dziedzic‑Oleksy and colleagues share with us the diagnostic and decision‑making pathway in an unusual patient with aortic stenosis. Dr Karch and colleagues, on the basis of a young asymptomatic professional football player referred to their attention, discuss management of athletes with isolated left ventricular noncompaction. Finally, Dr Drabik and colleagues present views on how to manage a young female patient with significant left‑to‑right shunt at the ventricular septal level and severe pulmonary regurgitation in a young woman many years after tetralogy of Fallot surgical correction. The final item in this issue is a report from the annual Conference of the Polish Society of Cardiology Working Group on Congenital Heart Diseases, with a strong presence of the Krakow RCD Centre. Let me close this note from Editor by thanking you again for your work with us, not only as Readers but also as contributors to the Journal. Please feel free to agree and (equally) disagree with what you read in the Journal (NB. we shall soon include a ‘Letters to Editor’ column). Hardly anything can be more constructive that an exchange of informed views and experiences. Feel free to submit an Original Paper, Review, or a Case Report. I am pleased to inform you that the Journal is on the right path towards receiving recognition with an impact factor. Piotr Podolec Editor‑in‑Chief Journal of Rare Cardiovascular Diseases