arrhythmogenic dysplasia

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PURPOSE: To evaluate a cardiac MRI feature tracking (FT)-derived parameter that combines right ventricular (RV) longitudinal and radial motions in detecting arrhythmogenic right ventricular cardiomyopathy (ARVC). MATERIALS AND METHODS: Patients with ARVC ( n = 47; median age, 46 [IQR, 30-52] years; 31 men) were compared with controls ( n = 39; median age, 46 [IQR, 33-53] years; 23 men) and separated into two groups based on fulfillment of major structural 2020 International criteria...

Arrhythmogenic right ventricular dysplasia (ARVD) is a genetically predisposed form of cardiomyopathy that mainly affects young individuals resulting in fatal ventricular arrhythmias leading to sudden cardiac death. ARVD has 50% of cases that involve both the right ventricle (RV) and left ventricle (LV), but only a small number of cases involve an isolated left ventricle. In this case series, five patients (four males and one female) with a diagnosis of ARVD presented to our center with varied clinical presentations across a wide range of age groups...

BACKGROUND: Multicenter ventricular tachycardia (VT) ablation studies have shown poorer outcomes compared with single-center experiences. This difference could be related to heterogeneous mapping and ablation strategies. OBJECTIVES: This study evaluated a homogenous simplified catheter ablation strategy for different substrates and compared the results with those of a single referral center. METHODS: This was a multicenter prospective VT ablation registry of patients with the following 4 causes of VT: previous myocardial infarction; previous myocarditis; arrhythmogenic right ventricular dysplasia; or idiopathic dilated cardiomyopathy...

The relations between endocardial voltage mapping and the genetic background of patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) have not been investigated so far. A total of 97 patients with proved or suspected ARVC who underwent 3-dimensional endocardial mapping and genetic testing have been retrospectively included. Presence, localization, and size of scar areas were correlated to ARVC diagnosis and the presence of a pathogenic variant. A total of 78 patients (80%) presented with some bipolar or unipolar scar on endocardial voltage mapping, whereas 43 carried pathogenic variants (44%)...

BACKGROUND: Few data exist on the characteristics and outcomes of patients with arrhythmogenic right ventricular cardiomyopathy and advanced heart failure who undergo heart transplantation. AIM: To explore the pretransplant course and outcomes of patients with arrhythmogenic right ventricular cardiomyopathy after heart transplantation. METHODS: This observational retrospective monocentric study included all consecutive patients with arrhythmogenic right ventricular cardiomyopathy who underwent heart transplantation during a 13-year period (2006-2019) at Pitié-Salpêtrière University Hospital (Paris)...

Arrhythmogenic right ventricular cardiomyopathy (ARVC), formerly called arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/ARVC), is a myocardial structural abnormality disease with clinical presentation of cardiac arrhythmia. It is characterized by the replacement of the myocardium with fibrofatty tissue. We present a case of a young male who met two major criteria for definite diagnosis of ARVC: early transition inverted t waves in lead V1-V4 and MRI showed right ventricle (RV) dyskinesia with RV ejection fraction (EF) < 40%, both satisfying the two major criteria of EKG and MRI required for definitive diagnosis...

Sudden cardiac death (SCD) describes the unexpected natural death from a cardiac cause within a short time period, generally 1 hour or lesser from the onset of symptoms, often due to a cardiac dysrhythmia. Overall, the most common cause of SCD is coronary artery disease but for patients aged younger than 35 years, the most common cause of SCD is a dysrhythmia in the setting of a structurally normal heart. This article will review the background, diagnosis, and management of the common hereditary channelopathies and cardiomyopathies associated with an increased risk of SCD in patients without ischemic heart disease...

Arrhythmogenic right ventricular cardiomyopathy is an inherited desmosomal myopathy characterized by progressive fibrofatty replacement of the myocardium, right ventricular enlargement, and malignant ventricular arrhythmias. Ventricular tachycardias is one of the most common initial presentation of ARVC. This manuscript addresses invasive VT ablation options for the managmenet of VT in patients with ARVC.

Arrhythmogenic cardiomyopathy is a rare hereditary structural heart disease, with various phenotypes, which mostly affects the right ventricle of the heart, resulting in fibrofatty replacement of the heart muscles and a proclivity to create spontaneous malignant cardiac arrhythmias that may lead to sudden death. Most previous reports were noted on young people. We report a case of its biventricular phenotype in a 61-year-old heavy truck driver who has a current medical history of diabetes mellitus and smoking and was incidentally diagnosed based on the Padua criteria after presenting to the hospital with complaints of lightheadedness and syncope...

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A previous study found that transmembrane protein 43 (TMEM43) was highly associated with arrhythmogenic right ventricular dysplasia/cardiomyopathy. However, as a transmembrane protein, TMEM43 may be involved in ferroptosis in cardiovascular disease. In this study, we aimed to explore the role of TMEM43 in lipopolysaccharide (LPS)-induced cardiac injury and the underlying mechanism. Mice were injected with LPS (10 mg/kg) for 12 h to generate experimental sepsis. Mice were also subjected to AAV9-shTMEM43 to knock down TMEM43 or AAV9-TMEM43 to overexpress TMEM43 in hearts...

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by high propensity to life-threatening arrhythmias and progressive loss of heart muscle. More than 40% of reported genetic variants linked to ARVC reside in the PKP2 gene, which encodes the PKP2 protein (plakophilin-2). METHODS: We describe a comprehensive characterization of the ARVC molecular landscape as determined by high-resolution mass spectrometry, RNA sequencing, and transmission electron microscopy of right ventricular biopsy samples obtained from patients with ARVC with PKP2 mutations and left ventricular ejection fraction >45%...

In recent years a phenotypic variant of Arrhythmogenic cardiomyopathy has been described, characterized by predominant left ventricular (LV) involvement with no or minor right ventricular abnormalities, referred to as Arrhythmogenic left ventricular cardiomyopathy (ALVC). Different disease-genes have been identified in this form, such as Desmoplakin (DSP), Filamin C (FLNC), Phospholamban (PLN) and Desmin (DES). The main purpose of this critical systematic review was to assess the level of knowledge on genetic background and clinical features of ALVC...

Arrhythmogenic cardiomyopathy (ACM) is a genetically determined heart muscle disease characterized by fibro-fatty myocardial replacement, clinically associated with malignant ventricular arrhythmias and sudden cardiac death. Originally described a disease with a prevalent right ventricular (RV) involvement, subsequently two other phenotypes have been recognized, such as the left dominant and the biventricular phenotypes, for which a recent International Expert consensus document provided upgrade diagnostic criteria (the 2020 "Padua Criteria")...

Arrhythmogenic right ventricular dysplasia (ARVD) is a progressive degeneration and replacement of the right ventricular (RV) myocardial tissue by fat and fibrosis and produce clinical condition. Desmosome gene mutations are only the causative state for ARVD hereditary disorder. The arrhythmogenic right ventricular cardiomyopathy incidence is about 1/1000-5000. Mostly young people and athletes are bearing the clinical presentations include presyncope, syncope, ventricular tachycardias or ventricular fibrillation leading to cardiac arrest...

The phospholamban (PLN) R14del mutation is associated with arrhythmogenic right ventricular dysplasia (ARVD/C). ARVD/C is a cardiac disease characterized by arrhythmias and structural abnormalities in the right ventricle. Because PLN is a regulator of calcium release, this mutation can have deleterious effects on tissue integrity and contraction. This mutation is a trinucleotide (AGA) deletion that leads to an arginine deletion at position 14 of the PLN structure. Here we show two lines carrying this mutation with typical iPSC morphology, pluripotency, karyotype, ability to differentiate into the three germ layers in vitro, and readily availability for studying pathological mechanisms or ARVD/C...

Arrhythmogenic right ventricular dysplasia (ARVD) is a heart muscle disease that predominantly affects the right ventricle; however, biventricular involvement is increasingly being recognized. Fibrofatty tissue replacement is a central feature of ARVD. The majority of the identified genes, including protein plakophilin-2 (PKP-2), involved in cell-to-cell adhesion, can be seen in most genetic cases. Clinically, affected individuals present with palpitations, syncope, or sudden death due to ventricular arrhythmias, such as ventricular tachycardia (VT) or fibrillation, with symptomatic heart failure usually only in later stages...

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by risk of malignant ventricular arrhythmias (VA). ARVC is diagnosed using an array of clinical tests in the consensus-based task force criteria (TFC), one of which is genetic testing. OBJECTIVE: To investigate the value of genetic testing in diagnosing ARVC and its relation to the occurrence of first malignant VA. METHODS: A multicenter cohort of ARVC patients was scored using the revised 2010 TFC with and without genetic criterion, analyzing any resulting loss or delay of diagnosis...

The ryanodine receptors (RyRs) are large cation-selective ligand-gated channels that are expressed in the sarcoplasmic reticulum (SR) membrane. They mediate the controlled release of Ca2+ from SR and play an important role in many cellular processes. The mutations in RyRs are associated with several skeletal muscle and cardiac conditions, including malignant hyperthermia (MH), central core disease (CCD), catecholaminergic polymorphic ventricular tachycardia (CPVT), and arrhythmogenic right ventricular dysplasia (ARVD)...