scholarly journals Arrhythmogenic Cardiomyopathy: Electrical and Structural Phenotypes

2016 ◽  
Vol 5 (2) ◽  
pp. 90 ◽  
Author(s):  
Deniz Akdis ◽  
Corinna Brunckhorst ◽  
Firat Duru ◽  
Ardan M Saguner ◽  
◽  
...  
Keyword(s):  
Heart Failure ◽  
Molecular Mechanisms ◽  
Task Force ◽  
Sudden Cardiac Arrest ◽  
Clinical Manifestations ◽  
Right Ventricular Outflow Tract ◽  
Ventricular Outflow Tract ◽  
Implantable Cardioverter Defibrillators ◽  
Arrhythmogenic Cardiomyopathy ◽  
Genes Encoding

This overview gives an update on the molecular mechanisms, clinical manifestations, diagnosis and therapy of arrhythmogenic cardiomyopathy (ACM). ACM is mostly hereditary and associated with mutations in genes encoding proteins of the intercalated disc. Three subtypes have been proposed: the classical right-dominant subtype generally referred to as ARVC/D, biventricular forms with early biventricular involvement and left-dominant subtypes with predominant LV involvement. Typical symptoms include palpitations, arrhythmic (pre)syncope and sudden cardiac arrest due to ventricular arrhythmias, which typically occur in athletes. At later stages, heart failure may occur. Diagnosis is established with the 2010 Task Force Criteria (TFC). Modern imaging tools are crucial for ACM diagnosis, including both echocardiography and cardiac magnetic resonance imaging for detecting functional and structural alternations. Of note, structural findings often become visible after electrical alterations, such as premature ventricular beats, ventricular fibrillation (VF) and ventricular tachycardia (VT). 12-lead ECG is important to assess for depolarisation and repolarisation abnormalities, including T-wave inversions as the most common ECG abnormality. Family history and the detection of causative mutations, mostly affecting the desmosome, have been incorporated in the TFC, and stress the importance of cascade family screening. Differential diagnoses include idiopathic right ventricular outflow tract (RVOT) VT, sarcoidosis, congenital heart disease, myocarditis, dilated cardiomyopathy, athlete’s heart, Brugada syndrome and RV infarction. Therapeutic strategies include restriction from endurance and competitive sports, β-blockers, antiarrhythmic drugs, heart failure medication, implantable cardioverter-defibrillators and endocardial/epicardial catheter ablation.

scholarly journals P1804 Phenotypic overlap between Brugada syndrome and arrhythmogenic cardiomyopathy

2020 ◽  
Vol 21 (Supplement_1) ◽  
Author(s):  
E Scheirlynck ◽  
S Droogmans ◽  
J Sieira ◽  
C De Asmundis ◽  
A Motov ◽  
...  
Keyword(s):  
High Risk ◽  
Brugada Syndrome ◽  
Cardiac Death ◽  
Task Force ◽  
Right Ventricular Outflow Tract ◽  
Ventricular Outflow Tract ◽  
Cardiac Diseases ◽  
Arrhythmogenic Cardiomyopathy ◽  
T Wave ◽  
The Right

Abstract Background Brugada syndrome (BrS) and arrhythmogenic cardiomyopathy (AC) are genetic cardiac diseases characterized by high risk for sudden cardiac death. Although BrS and AC are different clinical entities, experimental research and clinical cases suggest a phenotypic overlap. Purpose We aimed to assess the prevalence of structural and electrical AC diagnostic criteria in BrS patients. Methods In this multicentre study we acquired electrocardiograms (ECG) and transthoracic echocardiography in BrS patients between May and September 2018. We assessed the right ventricular outflow tract (RVOT) diameter, fractional area change (FAC) from echocardiography, and depolarization and repolarization criteria from ECG using parameter cut offs and definitions according to 2010 AC Task Force criteria. Results We included 123 BrS patients [54 (40-62) years old, 63 (51%) women]. Although, by definition, no akinesia, dyskinesia or aneurisms were present, 61 (50%) BrS patients had major criteria for dilated RVOT and/or reduced FAC, and 39 (32%) had at least one minor RVOT or FAC criterion (Figure). ECG showed minor repolarization and/or depolarization criteria in 30 (24%) BrS patients. No epsilon waves or major T-wave inversions were observed. Conclusion Half of BrS patients had evident major RVOT dilation and/or reduced FAC and one quarter had minor electrical features of AC. These findings suggest a significant phenotypical continuum between BrS and AC. Abstract P1804 Figure.

scholarly journals Metastatic adenocarcinoma involving the right ventricle and pulmonary artery leading to right heart failure: case report

2017 ◽  
Vol 136 (3) ◽  
pp. 262-265 ◽  
Author(s):  
Turgut Karabag ◽  
Caner Arslan ◽  
Turab Yakisan ◽  
Aziz Vatan ◽  
Duygu Sak
Keyword(s):  
Heart Failure ◽  
Case Report ◽  
Pulmonary Artery ◽  
Right Ventricle ◽  
Right Ventricular ◽  
Right Ventricular Outflow Tract ◽  
Right Heart Failure ◽  
Ventricular Outflow Tract ◽  
Right Heart ◽  
The Right

ABSTRACT CONTEXT: Obstruction of the right ventricular outflow tract due to metastatic disease is rare. Clinical recognition of cardiac metastatic tumors is rare and continues to present a diagnostic and therapeutic challenge. CASE REPORT: We present the case of a patient who had severe respiratory insufficiency and whose clinical examinations revealed a giant tumor mass extending from the right ventricle to the pulmonary artery. We discuss the diagnostic and therapeutic options. CONCLUSION: In patients presenting with acute right heart failure, right ventricular masses should be kept in mind. Transthoracic echocardiography appears to be the most easily available, noninvasive, cost-effective and useful technique in making the differential diagnosis.

scholarly journals P234 Giant right atrial myxoma presenting as right heart failure

2020 ◽  
Vol 21 (Supplement_1) ◽  
Author(s):  
G Carazo Vargas ◽  
J A Fuentes Mendoza ◽  
M E Ruiz Esparza
Keyword(s):  
Heart Failure ◽  
Emergency Department ◽  
Right Atrium ◽  
Clinical Case ◽  
Right Ventricular Outflow Tract ◽  
Right Heart Failure ◽  
Ventricular Outflow Tract ◽  
Atrial Myxoma ◽  
Right Heart ◽  
The Right

Abstract Introduction Myxomas are the most frequent primary cardiac neoplasms. It is currently believed that myxomas are derived from multipotent mesenchymal cells capable of both neural and epithelial differentiation Histologically, these tumors are composed of dispersed cells within a stroma of mucopolysaccharides Myxomas produce vascular endothelial growth factor, which probably contributes to the growth induction at the initial stages of tumor growth. Tumors vary widely in size, ranging from 1 to 15 cm in diameter and weighing between 15 and 180 g. About 35 percent of myxomas are friable, and they tend to present emboli. The clinical characteristics of these tumors are closely related to their location, size, and mobility; there are no specific signs and symptoms that suggest the presence of a myxoma. There are several mechanisms by which cardiac tumors can cause symptoms. The blockage of circulation through the heart or heart valves produces symptoms of heart failure. Atrial myxoma can interfere with the valves of the heart and cause regurgitation. They can also produce systemic embolisms and constitutional signs. Clinical Case We present a 29-year-old female patient who started with fatigue, weight loss, increased abdominal perimeter and dyspnea of one month"s effort that progressed to dyspnea at rest in the last week associated with syncope, so she decided to go to the emergency department of our institution. Upon arrival at the emergency room, the patient was found with vital signs within normal parameters, however with dyspnea at rest, jugular plethora and important lower limb edema. On auscultation, a systolic-diastolic murmur was found with an increase in the Rivero Carvallo maneuver, with reinforcement of the pulmonary component of the second noise and parasternal high-left rise. In clinical analysis, NT-proBNP 5698pg/mL, AST 34, INR 1.65 and serum lactate of 4.2 was found. A Transthoracic Echocardiogram (TTE) was performed, where a 10cm mass effusion was documented that occupied the entire right atrium and protruded into the right ventricular outflow tract. With these findings, medical treatment was started for right heart failure and it was to cardiac surgery for resection of the right atrium where it had been performed, however during the immediate postoperative state, presented biventricular failure and later asystole without achieving a return of spontaneous circulation despite resuscitation maneuvers. Conclusion In this case, it is an unusual presentation of a rare cardiac pathology that started with symptoms of right heart failure due to the obstruction of the right ventricular outflow tract. We consider that it is an interesting clinical case and with important educational aspects to take into consideration the differential clinical diagnoses of a patient presenting to the emergency department with right heart failure. Abstract P234 Figure. Giant Myxoma

scholarly journals Giant Unruptured Sinus of Valsalva Aneurysm: An Unusual Cause of Right Heart Failure

2015 ◽  
Vol 5 ◽  
pp. 64 ◽  
Author(s):  
Tejeshwar Singh Jugpal ◽  
Rashmi Dixit ◽  
Samta Lohchab ◽  
Anju Garg
Keyword(s):  
Heart Failure ◽  
Right Ventricular Outflow Tract ◽  
Right Heart Failure ◽  
Ventricular Outflow Tract ◽  
Unruptured Aneurysm ◽  
Outflow Tract ◽  
Sinus Of Valsalva ◽  
Right Heart ◽  
Sinus Of Valsalva Aneurysm ◽  
The Right

Aneurysm of sinus of Valsalva is a rare cardiac abnormality. Unruptured aneurysm of sinus of Valsalva is usually asymptomatic and often discovered incidentally. However, a large aneurysm can, in rare cases, cause compression of the ventricular outflow tract. We report a case of 17-year-old male with congestive right heart failure with a large, partially thrombosed unruptured aneurysm of the right sinus of Valsalva. The aneurysmal sac was compressing the right ventricular outflow tract causing marked dilatation of the right ventricle and atrium that was confirmed on contrast-enhanced computed tomography imaging. Unruptured sinus of Valsalva aneurysm causing right heart failure in adolescence has been rarely reported in literature.

scholarly journals Tetralogy of Fallot with Absent Pulmonary Valve - A Case Report

1970 ◽  
Vol 6 (1) ◽  
pp. 48-50
Author(s):  
Md Mazibur Rahman
Keyword(s):  
Heart Failure ◽  
Tetralogy Of Fallot ◽  
Septal Defect ◽  
Pulmonary Valve ◽  
Right Ventricular Outflow Tract ◽  
Ventricular Outflow Tract ◽  
Absent Pulmonary Valve ◽  
Transannular Patch ◽  
Patch Closure ◽  
Successful Repair

A 25 years male patient of Tetralogy of Fallot (TOF) with congenital absent of pulmonary valve (APV) presented with symptoms of palpitation and exertional respiratory distress without congestive heart failure. He underwent successful repair of intracardiac defects. The procedures consisted of patch closure of ventricular septal defect and right. ventricular outflow tract reconstruction with a monocusp transannular patch. Resection or plication of dilated pulmonary artery was not required. The patient is doing well without any symptoms. Key words: Tetralogy of Fallot; Absent pulmonary valve DOI: 10.3329/uhj.v6i1.7197University Heart Journal Vol.6(1) 2010 pp.48-50

Mid-Term Experience with Valved Bovine Jugular Vein Conduits

2005 ◽  
Vol 13 (4) ◽  
pp. 361-365 ◽  
Author(s):  
Malgorzata Pawelec-Wojtalik ◽  
Wojciech Mrówczyński ◽  
Andrzej Wodziński ◽  
Michal Wojtalik ◽  
Jacek Henschke ◽  
...  
Keyword(s):  
Balloon Dilatation ◽  
Jugular Vein ◽  
Heart Defects ◽  
Sudden Cardiac Arrest ◽  
Right Ventricular Outflow Tract ◽  
Ventricular Outflow Tract ◽  
Good Alternative ◽  
Percutaneous Balloon ◽  
Bovine Jugular Vein

From June 1999 to January 2004, 43 children underwent implantation of a valved bovine jugular vein conduit and correction of complex congenital heart defects. Median age was 1.98 years (range, 11 days – 13.3 years). There were 7 early deaths (16.3%) unrelated to conduit failure or thrombosis. Median follow-up of 36 survivors was 24 months (range, 1–48 months, quartile range, 12–48 months), total follow-up was 78 patient-years. There were 3 late deaths (8.3%) due to infection, pulmonary thromboembolism, and sudden cardiac arrest after re-operation to repair a right ventricular outflow tract aneurysm. There were 2 conduit explantations due to dysfunction and suspected endocarditis. Three patients underwent balloon dilatation of distal stenoses. The mean peak gradient through the pulmonary anastomosis was 15 mm Hg (range, 3–42 mm Hg) among patients free from re-intervention. No severe valve regurgitation was observed. Freedom from re-intervention was 72% at 48 months. This conduit remains a good alternative to homografts. Causes of distal stenosis must be clarified, guidelines for prophylactic anticoagulation must be created, and the role of percutaneous balloon dilatation established.

scholarly journals Established and Emerging Mechanisms in the Pathogenesis of Arrhythmogenic Cardiomyopathy: A Multifaceted Disease

2020 ◽  
Vol 21 (17) ◽  
pp. 6320
Author(s):  
Shanshan Gao ◽  
Deepa Puthenvedu ◽  
Raffaella Lombardi ◽  
Suet Nee Chen
Keyword(s):  
Molecular Mechanisms ◽  
Molecular Genetic ◽  
Autoimmune Response ◽  
Arrhythmogenic Cardiomyopathy ◽  
Cellular Mechanisms ◽  
Paracrine Factors ◽  
Epicardial Cells ◽  
Genes Encoding ◽  
Advanced Stages ◽  
Canonical Wnt

Arrhythmogenic cardiomyopathy (ACM) is a heritable myocardial disease that manifests with cardiac arrhythmias, syncope, sudden cardiac death, and heart failure in the advanced stages. The pathological hallmark of ACM is a gradual replacement of the myocardium by fibroadiposis, which typically starts from the epicardium. Molecular genetic studies have identified causal mutations predominantly in genes encoding for desmosomal proteins; however, non-desmosomal causal mutations have also been described, including genes coding for nuclear proteins, cytoskeleton componentsand proteins involved in excitation-contraction coupling. Despite the poor prognosis, currently available treatments can only partially control symptoms and to date there is no effective therapy for ACM. Inhibition of the canonical Wnt/β-catenin pathway and activation of the Hippo and the TGF-β pathways have been implicated in the pathogenesis of ACM. Yet, our understanding of the molecular mechanisms involved in the development of the disease and the cell source of fibroadiposis remains incomplete. Elucidation of the pathogenesis of the disease could facilitate targeted approaches for treatment. In this manuscript we will provide a comprehensive review of the proposed molecular and cellular mechanisms of the pathogenesis of ACM, including the emerging evidence on abnormal calcium homeostasis and inflammatory/autoimmune response. Moreover, we will propose novel hypothesis about the role of epicardial cells and paracrine factors in the development of the phenotype. Finally, we will discuss potential innovative therapeutic approaches based on the growing knowledge in the field.

Molecular mechanisms underlying K+ current downregulation in canine tachycardia-induced heart failure

2005 ◽  
Vol 288 (6) ◽  
pp. H2887-H2896 ◽  
Author(s):  
Fadi G. Akar ◽  
Richard C. Wu ◽  
George J. Juang ◽  
Yanli Tian ◽  
Mirka Burysek ◽  
...  
Keyword(s):  
Heart Failure ◽  
Molecular Mechanisms ◽  
Canine Model ◽  
Delayed Rectifier ◽  
Interacting Protein ◽  
Altered Expression ◽  
Protein Levels ◽  
Delayed Rectifier Current ◽  
Repolarization Reserve ◽  
Genes Encoding

Heart failure (HF) is characterized by marked prolongation of action potential duration and reduction in cellular repolarization reserve. These changes are caused in large part by HF-induced K+ current downregulation. Molecular mechanisms underlying these changes remain unclear. We determined whether downregulation of K+ currents in a canine model of tachycardia-induced HF is caused by altered expression of underlying K+ channel α- and β-subunits encoding these currents. K+ channel subunit expression was quantified in normal and failing dogs at the mRNA and protein levels in epicardial (Epi), midmyocardial (Mid), and endocardial (Endo) layers of left ventricle. Analysis of mRNA and protein levels of candidate genes encoding the transient outward K+ current ( Ito) revealed marked reductions in canine cKv4.3 expression in HF in Epi (44% mRNA, 39% protein), Mid (52% mRNA, 34% protein), and Endo (49% mRNA, 73% protein) layers and a paradoxical enhancement (41% Epi, 97% Mid, 113% Endo) in cKv1.4 protein levels, without significant changes in Kv channel-interacting protein cKChIP2 expression. Expression of cKir2.1, the gene underlying inward rectifier K+ current ( IK1), was unaffected by HF at mRNA and protein levels despite significant reduction in IK1, whereas canine ether-à-go-go-related gene (cERG), which encodes the rapidly activating component of the delayed rectifier current ( IK), exhibited increased protein expression. HF was not accompanied by significant changes in cKvLQT1 or cMinK mRNA and protein levels. These data indicate that 1) downregulation of Ito in HF is associated with decreased cKv4.3 and not cKv1.4 or cKChIP2, and 2) alterations in both the rapidly activating and slowly activating components of IK as well as IK1 in nonischemic dilated cardiomyopathy are not caused by changes in either transcript or immunoreactive protein levels of relevant channel subunits, which suggests posttranslational modification of these currents by HF.

scholarly journals Buccal Mucosa Cells as a Potential Diagnostic Tool to Study Onset and Progression of Arrhythmogenic Cardiomyopathy

2021 ◽  
Vol 23 (1) ◽  
pp. 57
Author(s):  
Helen E. Driessen ◽  
Stephanie M. van der Voorn ◽  
Mimount Bourfiss ◽  
Freyja H. M. van Lint ◽  
Ferogh Mirzad ◽  
...  
Keyword(s):  
Buccal Mucosa ◽  
Cardiac Tissue ◽  
Task Force ◽  
Arrhythmogenic Cardiomyopathy ◽  
Cardiac Tissues ◽  
Protein Levels ◽  
Pathogenic Variants ◽  
Buccal Mucosa Cells ◽  
Genes Encoding ◽  
The Individual

In arrhythmogenic cardiomyopathy (ACM) pathogenic variants are found in genes encoding desmosomal proteins and in non-desmosomal genes, such as phospholamban (PLN, p.Arg14del variant). Previous research showed that plakoglobin protein levels and localization in the cardiac tissue of ACM patients, and PLN p.Arg14del patients diagnosed with an ACM phenotype, are disturbed. Moreover, the effects of pathogenic variants in desmosomal genes are reflected in non-cardiac tissues like buccal mucosa cells (BMC) which could serve as a promising new and non-invasive tool to support diagnosis. We collected the BMC of 33 ACM patients, 17 PLN p.Arg14del patients and 34 controls, labelled the BMC with anti-plakoglobin antibodies at different concentrations, and scored their membrane labelling. We found that plakoglobin protein levels were significantly reduced in BMC obtained from diagnosed ACM patients and preclinical variant carriers when compared to controls. This effect was independent from age and sex. Moderate to strong correlations were found with the revised 2010 Task Force Criteria score which is commonly used for ACM diagnosis (rs = −0.67, n = 64, p < 0.0001 and rs = −0.71, n = 64, p < 0.0001). In contrast, plakoglobin scores in PLN p.Arg14del patients were comparable to controls (p > 0.209), which suggests differences in underlying etiology. However, for the individual diagnosis of the ‘classical’ ACM patient, this method might not be discriminative enough to distinguish true patients from variant carriers and controls, because of the high interindividual variability.

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