scholarly journals The 2020 “Padua Criteria” for Diagnosis and Phenotype Characterization of Arrhythmogenic Cardiomyopathy in Clinical Practice

2022 ◽  
Vol 11 (1) ◽  
pp. 279
Author(s):  
Francesca Graziano ◽  
Alessandro Zorzi ◽  
Alberto Cipriani ◽  
Manuel De Lazzari ◽  
Barbara Bauce ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Diagnostic Criteria ◽  
Tissue Characterization ◽  
Task Force ◽  
Positive Family History ◽  
Standard Test ◽  
Arrhythmogenic Cardiomyopathy ◽  
Increased Risk ◽  
Criteria For Diagnosis ◽  
The Right

Arrhythmogenic Cardiomyopathy (ACM) is a heredo-familial cardiac disease characterized by fibro-fatty myocardial replacement and increased risk of sudden cardiac death. The diagnosis of ACM can be challenging due to the lack of a single gold-standard test: for this reason, it is required to satisfy a combination of multiple criteria from different categories including ventricular morpho-functional abnormalities, repolarization and depolarization ECG changes, ventricular arrhythmias, tissue characterization findings and positive family history/molecular genetics. The first diagnostic criteria were published by an International Task Force (ITF) of experts in 1994 and revised in 2010 with the aim to increase sensitivity for early diagnosis. Limitations of the 2010 ITF criteria include the absence of specific criteria for left ventricle (LV) involvement and the limited role of cardiac magnetic resonance (CMR) as the use of the late gadolinium enhancement technique for tissue characterization was not considered. In 2020, new diagnostic criteria (“the Padua criteria”) were proposed. The traditional organization in six categories of major/minor criteria was maintained. The criteria for identifying the right ventricular involvement were modified and a specific set of criteria for identifying LV involvement was created. Depending on the combination of criteria for right and LV involvement, a diagnosis of classic (right dominant) ACM, biventricular ACM or left-dominant ACM is then made. The article reviews the rationale of the Padua criteria, summarizes the main modifications compared to the previous 2010 ITF criteria and provides three examples of the application of the Padua criteria in clinical practice.

scholarly journals The Italian Society of Rheumatology clinical practice guidelines for the diagnosis and management of gout

Reumatismo ◽  
2019 ◽  
Vol 71 (S1) ◽  
pp. 50-79
Author(s):  
N. Ughi ◽  
I. Prevete ◽  
R. Ramonda ◽  
L. Cavagna ◽  
G. Filippou ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Task Force ◽  
Grey Literature ◽  
Italian Society ◽  
Clinical Expertise ◽  
Level Of Evidence ◽  
Diagnosis And Management ◽  
Increased Risk

Gout is a chronic disease with an increased risk of premature death related to comorbidities. Treatment of gout has proved suboptimal and clinical practice guidelines (CPGs) are expected to have a key role in achieving improvement. Since new evidence has become available, the Italian Society for Rheumatology (SIR) has been prompted to update the 2013 recommendations on the diagnosis and management of gout. The framework of the Guidelines International Network Adaptation Working Group was adopted to identify, appraise (AGREE II), synthesize, and customize the existing gout CPGs to the needs of the Italian healthcare context. The task force consisting of rheumatologists from the SIR Epidemiology Unit and a committee with experience on gout identified key health questions to guide a systematic literature review. The target audience includes physicians and health professionals who manage gout in practice, and the target population includes adult patients suspected or diagnosed as having gout. These recommendations were finally rated by an external multi-disciplinary commission. From a systematic search in databases (Medline, Embase) and grey literature, 8 CPGs were selected and appraised by two independent raters. Combining evidence and statements from these CPGs and clinical expertise, 14 recommendations were developed and graded according to the level of evidence. The statements and potential impact on clinical practice were discussed and assessed. These revised recommendations are intended to provide guidance for the diagnosis and the treatment of gout and to disseminate the best evidence-based healthcare for this disease.

scholarly journals The Italian Society for Rheumatology clinical practice guidelines for rheumatoid arthritis

Reumatismo ◽  
2019 ◽  
Vol 71 (S1) ◽  
pp. 22-49 ◽  
Author(s):  
S. Parisi ◽  
A. Bortoluzzi ◽  
G.D. Sebastiani ◽  
F. Conti ◽  
R. Caporali ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Clinical Practice ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Functional Disability ◽  
Task Force ◽  
Grey Literature ◽  
Italian Society ◽  
Clinical Practices ◽  
Increased Risk

Rheumatoid arthritis (RA) is a chronic inflammatory autoimmune disorder characterised by chronic joint inflammation, leading to functional disability and increased risk of premature death. Clinical practice guidelines (CPGs) are expected to play a key role in improving management of RA, across the different phases of the disease course. Since new evidence has become available, the Italian Society for Rheumatology (SIR) has been prompted to update the 2011 recommendations on management of RA. The framework of the Guidelines International Network Adaptation Working Group was adopted to identify, appraise (AGREE II), synthesize, and customize the existing RA CPGs to the Italian healthcare context. The task force consisting of rheumatologists from the SIR Epidemiology Research Unit and a committee with experience in RA identified key health questions to guide a systematic literature review. The target audience includes physicians and health professionals who manage RA in practice, and the target population includes adult patients diagnosed as having RA. An external multi-disciplinary committee rated the final version of the CPGs. From the systematic search in databases (Medline, Embase) and grey literature, 6 CPGs were selected and appraised by two independent raters. Combining evidence and statements from these CPGs and clinical expertise, 8 (Management) +6 (Safety) recommendations were developed and graded according to the level of evidence. The statements and potential impact on clinical practice were discussed and assessed. These revised recommendations are intended to provide guidance for the management of RA and to disseminate the best evidence-based clinical practices for this disease.

scholarly journals Arrhythmogenic Cardiomyopathy

2019 ◽  
Vol 87 (11-12) ◽  
pp. 599-618
Author(s):  
Blaž Podgoršek ◽  
Gregor Poglajen ◽  
Andraž Cerar ◽  
Matjaž Šinkovec ◽  
Bojan Vrtovec
Keyword(s):  
Task Force ◽  
Current Knowledge ◽  
Diagnostic Yield ◽  
Treatment Strategies ◽  
Arrhythmogenic Cardiomyopathy ◽  
Icd Implantation ◽  
Fatty Replacement ◽  
Current Task ◽  
Advanced Stages ◽  
The Right

Arrhythmogenic cardiomyopathy (AC) is a genetic disease of the myocardium characterized by fibro-fatty replacement of the apoptotic myocardium. It primarily affects the right ventricle, however in advanced stages of the disease the left ventricle can also be significantly affected. AC is a challenging diagnosis, especially in the early stages of the disease, and should be considered in all patients presenting with palpitations, syncope or sudden cardiac death when other, more common causes of these symptoms/signs are excluded. In patients with suspected AC, evaluation according to the current Task Force Criteria should be applied to achieve optimal diagnostic yield. The main therapeutic concern in AC patients is the prevention of SCD, and thus all patients with established diagnosis have to be evaluated for potential ICD implantation, which is indicated in the majority of symptomatic patients. In this narrative review we aim to outline current knowledge on the pathophysiology, diagnosis and treatment strategies of AC.

scholarly journals DESIGNING DRUG TRIALS FOR SARCOPENIA IN OLDER ADULTS WITH HIP FRACTURE – A TASK FORCE FROM THE INTERNATIONAL CONFERENCE ON FRAILTY AND SARCOPENIA RESEARCH (ICFSR)

2014 ◽  
pp. 1-6
Author(s):  
B. VELLAS ◽  
R. FIELDING ◽  
R. MILLER ◽  
Y. ROLLAND ◽  
S. BHASIN ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Hip Fracture ◽  
Diagnostic Criteria ◽  
Task Force ◽  
National Institutes Of Health ◽  
Pharmaceutical Companies ◽  
Working Definition ◽  
Age Related ◽  
Increased Risk ◽  
Definition Of

In May 2012, a Sarcopenia Consensus Summit was convened by the Foundation of the National Institutes of Health (FNIH), National Institute of Aging (NIA), and the U.S. Food and Drug Administration (FDA); and co-sponsored by five pharmaceutical companies. At this summit, sarcopenia experts from around the world worked to develop agreement on a working definition of sarcopenia, building on the work of previous efforts to generate a consensus. With the ultimate goal of improving function and independence in individuals with sarcopenia, the Task Force focused its attention on people at greatly increased risk of muscle atrophy as a consequence of hip fracture. The rationale for looking at this population is that since hip fracture is a recognized condition, there is a clear regulatory path forward for developing interventions. Moreover, patients with hip fracture may provide an appropriate population to advance understanding of sarcopenia, for example helping to define diagnostic criteria, develop biomarkers, understand the mechanisms that underlie the age-related loss of muscle mass and strength, and identify endpoints for clinical trials that are reliable, objective, and clinically meaningful. Task Force members agreed that progress in treating sarcopenia will require strengthening of partnerships between academia, industry, and government agencies, and across continents to reach consensus on diagnostic criteria, optimization of clinical trials design, and identification of improved treatment and preventive strategies. In this report, the main results of the Task Force discussion are presented.

scholarly journals Evolution of diagnostic criteria for arrhythmogenic right ventricular cardiomyopathy and their application in clinical practice

2021 ◽  
Vol 26 (11) ◽  
pp. 4593
Author(s):  
Yu. A. Lutokhina ◽  
O. B. Blagova ◽  
A. G. Shestak ◽  
E. V. Zaklyazminskaya ◽  
S. A. Alexandrova ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Right Ventricular ◽  
Diagnostic Criteria ◽  
Clinical Performance ◽  
Case Reports ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
High Sensitivity ◽  
Arrhythmogenic Right Ventricular Dysplasia ◽  
The Novel ◽  
Arrhythmogenic Cardiomyopathy

This article describes evolution of criteria for arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). The novel diagnostic criteria for ARVD/C published in 2020 are analyzed in detail, among which biventricular and leftdominant arrhythmogenic cardiomyopathy are identified for the first time. The need to develop novel criteria was fed on the accumulation of new data on ARVD/C, in particular, significant advances in magnetic resonance imaging technologies. The novel criteria retained high sensitivity and specificity in relation to traditional right ventricular disease form and became more sensitive in relation to the biventricular and left-dominant arrhythmogenic cardiomyopathy.Nevertheless, the addition of left-dominant disease forms reduces the criteria specificity in general, since left ventricle involvement with a similar clinical performance can have different etiology that goes beyond the ARVD/C, even when mutations are detected in typical genes, which is demonstrated by case reports described in the article. Like the previous two versions, the novel criteria will be fully assessed only with a large sample of patients after their introduction into the routine cardiology clinical practice.

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 Tissue-resident Sca1+ PDGFRα+ mesenchymal progenitors are the cellular source of fibrofatty infiltration in arrhythmogenic cardiomyopathy

F1000Research ◽  
2013 ◽  
Vol 2 ◽  
pp. 141 ◽  
Author(s):  
Ben Paylor ◽  
Justin Fernandes ◽  
Bruce McManus ◽  
Fabio Rossi
Keyword(s):  
Ventricular Arrhythmias ◽  
Pathological Process ◽  
Mesenchymal Progenitor Cells ◽  
Arrhythmogenic Cardiomyopathy ◽  
Mesenchymal Progenitors ◽  
Increased Risk ◽  
Cellular Source ◽  
Myocardial Dystrophy ◽  
The Right

Arrhythmogenic cardiomyopathy (AC) is a disease of the heart involving myocardial dystrophy leading to fibrofatty scarring of the myocardium and is associated with an increased risk of both ventricular arrhythmias and sudden cardiac death. It often affects the right ventricle but may also involve the left. Although there has been significant progress in understanding the role of underlying desmosomal genetic defects in AC, there is still a lack of data regarding the cellular processes involved in its progression. The development of cardiac fibrofatty scarring is known to be a principal pathological process associated with ventricular arrhythmias, and it is vital that we elucidate the role of various cell populations involved in the disease if targeted therapeutics are to be developed. The known role of mesenchymal progenitor cells in the reparative process of both the heart and skeletal muscle has provided inspiration for the identification of the cellular basis of fibrofatty infiltration in AC. Here we hypothesize that reparative processes triggered by myocardial degeneration lead to the differentiation of tissue-resident Sca1+ PDGFRα+ mesenchymal progenitors into adipocytes and fibroblasts, which compose the fibrofatty lesions characteristic of AC.

scholarly journals Ultrastructural analysis of cardiomyocytes shows that loss of left ventricular desmosomes leads to shortening of ST segment time in patients with arrhythmogenic cardiomyopathy

2020 ◽  
Author(s):  
Yuan Chang ◽  
Xiumeng Hua ◽  
Yiqing Hu ◽  
Wendao Liu ◽  
Xiao Chen ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Task Force ◽  
Pearson Correlation ◽  
Left Ventricular ◽  
Normal Donor ◽  
Arrhythmogenic Cardiomyopathy ◽  
Clinical Genetic ◽  
Transmission Electron ◽  
St Segment ◽  
The Right

Abstract Background: Arrhythmogenic cardiomyopathy (AC) is an inherited myocardial disease affecting the both ventricles. It shows large heterogeneity on its clinical, genetic, and pathological manifestations. The intercalated disc remodeling has been investigated in right ventricle (RV) of AC, however, the ultrastructural features in left ventricle (LV) and among different genotypes remain unknown.Methods: The ultrastructure characters of both ventricles from 24 AC who fulfilled the international Task Force diagnostic and 10 normal donor hearts were studied by transmission electron microscope. We applied Pearson correlation analysis to identify the relationship between D structure and electrocardiogram changes.Results: These 24 patients were divided into two subtypes based on whether they carried desmosome (D) gene mutation. We found that more D structures in LV than that in the right ventricles (RV) in the normal hearts (LV vs. RV, 10.82 ± 3.12% vs. 6.75 ± 1.11%, p=0.001), but the density (AC vs. Control, 3.77 ± 1.58 per 10 μm vs. 4.21 ± 1.76 per 10 μm, p=0.001) and proportion (AC vs. Control, 6.65 ± 2.77% vs. 10.82 ± 3.12%, p=0.001) of D was declined in LV of AC compared with that in normal hearts. The width (AC vs. Control, 21.38 ± 2.31 nm vs. 18.09 ± 0.98 nm, p=0.001) and length (AC vs. Control, 0.17 ± 0.05 μm vs. 0.14 ± 0.01 μm, p=0.002) of D was increased in RV of AC compared with that in normal hearts. Destroyed D structures were found in all AC patients, regardless of carrying a D gene mutation or not. The proportion of D in LV are positively correlated with ST segment time in AC patients. The ultrastructure of mitochondria was not different between AC and normal hearts.Conclusions: The D remodeling patterns had no correlation with the type of mutation. The D of LV mainly showed a decrease in density and proportion, but the D of RV were mainly manifested as compensatory widening and lengthening. The D loss in LV may cause ST segment shortening. From the perspective of ultrastructure, we concluded that increased output power of heart may accelerate the desmosome remodeling or disintegration.

scholarly journals 430 Diagnosis and management of a case of biventricular arrhythmogenic cardiomyopathy: a case report

2021 ◽  
Vol 23 (Supplement_G) ◽  
Author(s):  
Luigia Gionti ◽  
Livio Imparato ◽  
Aniello Viggiano ◽  
Maria Angela Losi ◽  
Giuseppe Gargiulo ◽  
...  
Keyword(s):  
Tissue Characterization ◽  
Young Patients ◽  
Arrhythmogenic Cardiomyopathy ◽  
Icd Implantation ◽  
Electrophysiologic Study ◽  
Premature Ventricular Contractions ◽  
Variant Of Uncertain Significance ◽  
Fatty Replacement ◽  
History Of ◽  
The Right

Abstract Arrhythmogenic cardiomyopathy (ACM) is a genetically determined heart muscle disorder characterized by fibro-fatty replacement of myocardium which may affect the right ventricle (‘dominant right’ variant), the left ventricle (‘dominant left’ variant) or both (‘biventricular disease’ variant). Despite of ACM is one of the main causes of sudden cardiac death (SCD) in young people and athletes as well, the diagnosis of this complex clinical entity still remains a challenge. We report on a case of a 29 years old non-athletic woman with family history of SCD and a long-standing personal history of palpitations leading to frequent accesses to the Accident & Emergency Department. Her echocardiogram was normal while twelve leads ECG revealed negative T waves in the right precordial leads (V1–V3) and post-excitation epsilon waves. ECG Holter monitoring recorded frequent (up to 17 000 in 24 h) polymorphic premature ventricular contractions (PVCs) seldom organized in couplets or triplets. She was followed-up in our clinic and started on Propanolol 40 mg bid with slight relief of symptoms and reduction of PVCs. Cardiac magnetic resonance (CMR) showed regional dyskinesia of both ventricles and RV dilatation. Moreover, tissue characterization findings revealed the presence of diffuse subepicardial late gadolinium enhancement (LGE) of the LV. Genetic analysis was performed and a variant of uncertain significance (VUS) in Desmoplakin was identified. Non sustained monomorphic ventricular tachycardia was induced during electrophysiologic study by programmed ventricular stimulation. In light of these results, we diagnosed biventricular ACM and, after carefully discussion with the patient, a subcutaneous implantable cardioverter defibrillator (ICD) was implanted. The present case should be a persisting reminder that must be considered more than just a single diagnostic tool when dealing with arrhythmic presentations especially in young patients and the importance of contrast CMR along with genetic testing in order to aid clinicians in the demanding selection of the best candidates for ICD implantation.

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