Atrioventricular Nodal Reentrant Tachycardia in a Patient With Superior-Inferior Ventricles and Dextrocardia Treated With Cryoablation

A 19-year-old female underwent repair of complex congenital heart disease (atrial and ventricular septal defect with a criss-cross atrioventricular relationship) in infancy. Because or recurrent palpitations she underwent an electrophysiology study. Atypical atrioventricular nodal reentrant tachycardia was diagnosed. Catheter ablation was performed successfully using cryothermal energy. The diagnostic and therapeutic approach is discussed

Application of next generation sequencing in cardiology: current and future precision medicine implications

Inherited cardiovascular diseases are highly heterogeneous conditions with multiple genetic loci involved. The application of advanced molecular tools, such as Next Generation Sequencing, has facilitated the genetic analysis of these disorders. Accurate analysis and variant identification are required to maximize the quality of the sequencing data. Therefore, the application of NGS for clinical purposes should be limited to laboratories with a high level of technological expertise and resources. In addition, appropriate gene selection and variant interpretation can result in the highest possible diagnostic yield. Implementation of genetics in cardiology is imperative for the accurate diagnosis, prognosis and management of several inherited disorders and could eventually lead to the realization of precision medicine in this field. However, genetic testing should also be accompanied by an appropriate genetic counseling procedure that clarifies the significance of the genetic analysis results for the proband and his family. In this regard, a multidisciplinary collaboration among physicians, geneticists, and bioinformaticians is imperative. In the present review, we address the current state of knowledge regarding genetic analysis strategies employed in the field of cardiogenetics. Variant interpretation and reporting guidelines are explored. Additionally, gene selection procedures are accessed, with a particular emphasis on information concerning gene-disease associations collected from international alliances such as the Gene Curation Coalition (GenCC). In this context, a novel approach to gene categorization is proposed. Moreover, a sub-analysis is conducted on the 1,502,769 variation records with submitted interpretations in the Clinical Variation (ClinVar) database, focusing on cardiology-related genes. Finally, the most recent information on genetic analysis's clinical utility is reviewed

Risk stratification and management of women with cardiomyopathy/heart failure planning pregnancy or presenting during/after pregnancy: a position statement from the Heart Failure Association of the European Society of Cardiology Study Group on Peripartum Cardiomyopathy.

This position paper focusses on the pathophysiology, diagnosis and management of women diagnosed with a cardiomyopathy, or at risk of heart failure (HF), who are planning to conceive or present with (de novo or previously unknown) HF during or after pregnancy. This includes the heterogeneous group of heart muscle diseases such as hypertrophic, dilated, arrhythmogenic right ventricular and non-classified cardiomyopathies, left ventricular non-compaction, peripartum cardiomyopathy, Takotsubo syndrome, adult congenital heart disease with HF, and patients with right HF. Also, patients with a history of chemo-/radiotherapy for cancer or haematological malignancies need specific pre-, during and post-pregnancy assessment and counselling. We summarize the current knowledge about pathophysiological mechanisms, including gene mutations, clinical presentation, diagnosis, and medical and device management, as well as risk stratification. Women with a known diagnosis of a cardiomyopathy will often require continuation of drug therapy, which has the potential to exert negative effects on the foetus. This position paper assists in balancing benefits and detrimental effects

Global Longitudinal Strain of the Systemic Ventricle Is Correlated with Plasma Galectin-3 and Predicts Major Cardiovascular Events in Adult Patients with Congenital Heart Disease

Backround and Objective: We sought to assess in adult congenital heart disease (ACHD) patients the prognostic value of plasma galectin-3 (Gal-3) levels and systemic ventricular global longitudinal strain (SV GLS) as well as their association with NTproBNP and arrhythmogenesis. Materials and Methods: We studied 58 patients (26 men, mean age 37 ± 16.8 years) with various congenital heart diseases. Patients underwent echocardiogram, 24 h ambulatory ECG monitoring, while NTproBNP and Gal-3 were measured. They were followed up (median of 790.5 days -IQR 350.3 days) and major cardiovascular events (MACE) were recorded. Results. Mean Gal-3 levels were 17.07 ± 6.38 ng/m. Plasma Gal-3 was correlated with LogNTproBNP (r = 0.456, p = 0.001).Gal-3 levels associated with supraventricular tachycardia (SVT) (p < 0.001) and ventricular tachycardia (VT) (p < 0.001), but was not associated with MACE (HR 1.018, 95% CI 0.944–1.098, p = 0.641).Mean SVGLS in patients with systemic left ventricle was −15.91% ± 4.09%, which was significantly lower compared to patients with systemic right ventricle and patients with single ventricle (−11.42% ± 3.37% and −11.9% ± 5.06%, respectively, p = 0.021).SV GLS correlated with plasma Gal-3 (r = 0.313, p = 0.027) and logNTproBNP (r = 0.479, p < 0.001). SVGLS correlated with VT arrhythmias (p = 0.004). NTproBNP predicted MACE (AUC 0.750, p = 0.03). SVGLS also predicted MACE (AUC 0.745, p = 0.03. In multivariate analysis, SVGLS and logNTproBNP maintained their predictive value (p = 0.004 and p = 0.009, respectively) Conclusion: In ACHD patients, SV GLS was found to predict MACE independently from NTproBNP and correlated with VT. Gal-3 correlated with NTproBNP and SVGLS as well as SVT and VT, but has not been shown to bear significant prognostic potential

Η αθηρωμάτωση της θωρακικής αορτής στην πρόβλεψη των αθηρωματικών αποφρακτικών βλαβών του στεφανιαίου αγγειακού δικτύου: μελέτη με διοισοφαγικό υπερηχοκαρδιογράφημα

Η σοβαρότητα της αθηρωμάτωσης της θωρακικής αορτής σχετίζεται με την έκταση της στεφανιαίας νόσου. Σκοπός της μελέτης ήταν η ποσοτικοποίηση της παραπάνω σχέσης. Μέθοδος: Μελετήθηκαν 246 ασθενείς που υποβλήθηκαν σε στεφανιογραφία και διαθωρακικό υπερηχοκαρδιογράφημα. Η θωρακική αορτή χωρίστηκε σε 3 τμήματα. Χρησιμοποιήθηκε νέο σύστημα βαθμονόμησης της έκτασης και της σοβαρότητας της αθηρωμάτωσης θωρακικής αορτής. Ο δείκτης φορτίου αθηρωμάτωσης της θωρακικής αορτής ορίστηκε ως το άθροισμα των βαθμών του κάθε τμήματος της θωρακικής αορτής. Είχε πολύ μεγάλη ειδικότητα (88%) και ευαισθησία (81%) στην πρόβλεψη της στεφανιαίας νόσου. Η θετική προγνωστική αξία του δείκτη ήταν 77% και η αρνητική προγνωστική αξία του δείκτη ήταν 90%. Αύξηση του δείκτη κατά 1 (ένα) βαθμό συσχετίζονταν με 16πλάσια πιθανότητα ύπαρξης στεφανιαίας νόσου. Συμπέρασμα: Τιμές δείκτη φορτίου αθηρωμάτωσης θωρακικής αορτής μεγαλύτερες από 6 προβλέπει με ακρίβεια την ύπαρξη στεφανιαίας νόσου. Ασθενείς χωρίς ή με ήπια αθηρωμάτωση θωρακικής αορτής έχουν μικρή πιθανότητα να υποφέρουν από στεφανιαία νόσο

Late Takayasu Arteritis Diagnosis in a Female Patient With Prior Coronary Artery Bypass Grafting.

Takayasu arteritis is a rare cause of cardiovascular morbidity in the Western world. As consequence, vasculitis may be misdiagnosed and treated as atherosclerotic cardiovascular disease. We present a case of late Takayasu arteritis diagnosis, in a female patient with peripheral artery disease and previous coronary artery bypass grafting. (Level of Difficulty: Intermediate.)

Shortness of breath and lower limb edema in a 54-year-old woman, is there any cure?

Introduction: Pulmonary hypertension is common among patients with hyperthyroidism, and Graves’ disease constitutes the most common cause of thyrotoxicosis. Case Presentation: We report the case of a female patient admitted to the cardiology department with shortness of breath and pretibial myxedema. The diagnostic work-up revealed combined pre- and post-capillary pulmonary hypertension due to Graves’ disease superimposed on left ventricular diastolic dysfunction. Restoration of thyroid function led to normalization of the pulmonary pressure and symptom resolution. Conclusions: Thyroid disease is a cause of reversible pulmonary hypertension and thus should be appropriately considered in the diagnostic algorithm in patients with dyspnea, clinical signs of hyperthyroidism and elevated pulmonary pressure