Arrhythmogenic cardiomyopathy in children according to “Padua criteria”: Single pediatric center experience

Cicenia, Marianna; Cantarutti, Nicoletta; Adorisio, Rachele; Silvetti, Massimo Stefano; Secinaro, Aurelio; Ciancarella, Paolo; Mambro, Corrado Di; Magliozzi, Monia; Novelli, Antonio; Amodeo, Antonio; Baban, Anwar; Drago, Fabrizio

doi:10.1016/j.ijcard.2022.01.008

Cited by 14 publications

(14 citation statements)

References 27 publications

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“…CMPs are a heterogeneous group of diseases, which may lead to progressive heart failure or sudden cardiac death (SCD). They are rare conditions in the pediatric population: DCM is observed in 1:5000 children, HCM in 1:30,000, whereas RCM and ACM are considered extremely rare forms [ 24 , 25 , 26 ]. Familial cases are often autosomal dominant and are characterized by incomplete penetrance and variable expressivity.…”

Section: Discussionmentioning

confidence: 99%

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Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients

Baban

Alesi

Magliozzi

et al. 2022

JCDD

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Filamin C is a protein specifically expressed in myocytes and cardiomyocytes and is involved in several biological functions, including sarcomere contractile activity, signaling, cellular adhesion, and repair. FLNC variants are associated with different disorders ranging from striated muscle (myofibrillar distal or proximal) myopathy to cardiomyopathies (CMPs) (restrictive, hypertrophic, and dilated), or both. The outcome depends on functional consequences of the detected variants, which result either in FLNC haploinsufficiency or in an aberrant protein, the latter affecting sarcomere structure leading to protein aggregates. Cardiac manifestations of filaminopathies are most often described as adult onset CMPs and limited reports are available in children or on other cardiac spectrums (congenital heart defects—CHDs, or arrhythmias). Here we report on 13 variants in 14 children (2.8%) out of 500 pediatric patients with early-onset different cardiac features ranging from CMP to arrhythmias and CHDs. In one patient, we identified a deletion encompassing FLNC detected by microarray, which was overlooked by next generation sequencing. We established a potential genotype–phenotype correlation of the p.Ala1186Val variant in severe and early-onset restrictive cardiomyopathy (RCM) associated with a limb-girdle defect (two new patients in addition to the five reported in the literature). Moreover, in three patients (21%), we identified a relatively frequent finding of long QT syndrome (LQTS) associated with RCM (n = 2) and a hypertrabeculated left ventricle (n = 1). RCM and LQTS in children might represent a specific red flag for FLNC variants. Further studies are warranted in pediatric cohorts to delineate potential expanding phenotypes related to FLNC.

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Section: Discussionmentioning

confidence: 99%

“…FLNC missense variants were also associated with HCM with a prevalence of 1.3–8.7% [ 8 ]. FLNC variants in RCM [ 7 , 22 ], ACM [ 24 ], and LVNC [ 12 , 36 ] have been reported less frequently.…”

Section: Discussionmentioning

confidence: 99%

Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients

Baban

Alesi

Magliozzi

et al. 2022

JCDD

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“…Следует отметить, что лишь в 1 исследовании представлены клинические особенности леводоминантой и БВ форм [24], в 4 -ПЖ. Авторами коллегиально было принято решение о включении 2 работ [21,26] [29].…”

Section: Discussionunclassified

Clinical characteristics of various arrhythmogenic cardiomyopathy phenotypes in the pediatric population: a systematic review and meta-analysis

Alekseeva¹,

Kofeynikova

Marapov

et al. 2022

Russ J Cardiol

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Arrhythmogenic cardiomyopathy (ACM) is a progressive disease with a high risk of sudden cardiac death (SCD), which is very rare in the pediatric population. Aim. To study the clinical course, outcomes and prognosis in various ACM phenotypes in pediatric patients.Material and methods. During the initial selection, 144 publications were found in the PubMed database. From the initially identified results, an analysis of 7 works was carried out.Results. Positive family history for ACM was revealed in 90% of cases. Every second patient had symptoms of the disease (49,2% (95% confidence interval (CI): 19,3-79,1)). Frequent clinical manifestations of ACM were palpitations, heart failure symptoms, and syncope. The incidence of SCD and sudden cardiac arrest was 7,1% (95% CI: 1,7-12,4) and 5,1% (95% CI: 1,5-8,7), respectively. Implantation of an implantable-cardioverter defibrillator was performed in 40% of cases. Conclusion. We did not reveal any specificity of clinical signs depending on ACM phenotype. However, an earlier onset and an unfavorable course are characteristic of non-classical ACM types. ACM is characterized by a high risk of SCD, so it is extremely important to make a timely diagnosis.

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“…Overall, the number of patients reaching a definite diagnosis raised from 32 to 49 patients by using the 2020 Padua criteria compared with the 2010 ITF criteria. Moreover, Cicenia et al [45] demonstrated that the application of the Padua criteria increased the sensitivity for ACM compared to the 2010 ITF criteria also in a small pediatric cohort, by demonstrating LV in half of the study sample.…”

Section: Preliminary Clinical Experiences With the Use Of Padua Crite...mentioning

confidence: 99%

New Diagnostic Approach to Arrhythmogenic Cardiomyopathy: The Padua Criteria

Graziano¹,

Zorzi²,

Cipriani³

et al. 2022

Rev. Cardiovasc. Med.

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Arrhythmogenic cardiomyopathy (ACM) is a rare heart muscle disease characterized by a progressive fibro-fatty myocardial replacement, ventricular arrhythmias, and increased risk of sudden cardiac death. The first diagnostic criteria were proposed by an International Task Force of experts in 1994 and revised in 2010. At that time, ACM was mainly considered a right ventricle disease, with left ventricle involvement only in the late stages. Since 2010, several pathological and clinical studies using cardiac magnetic resonance (CMR) imaging have allowed to understand the phenotypic expression of the disease and to reach the current idea that ACM may affect both ventricles. Indeed, left ventricular involvement may parallel or exceed right ventricular involvement. The main limitations of the 2010 criteria included the poor sensitivity for left ventricular involvement and the lack of inclusion of tissue characterization by CMR. The 2020 International criteria (the Padua criteria) were developed to overcome these shortcomings. The most important innovations are the introduction of a set of criteria for identifying left ventricular variants and the use of CMR for tissue characterization. Moreover, criteria for right ventricular involvement were also updated taking into account new evidence. According to the number of criteria for right and/or left ventricular involvement, the 2020 Padua criteria allows diagnosing three ACM phenotypic variants: right-dominant, biventricular and left-dominant. This review discusses the evolving approach to diagnosis of ACM, from the 1994 International Criteria to the 2020 Padua criteria.

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Arrhythmogenic cardiomyopathy in children according to “Padua criteria”: Single pediatric center experience

Cited by 14 publications

References 27 publications

Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients

Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients

Clinical characteristics of various arrhythmogenic cardiomyopathy phenotypes in the pediatric population: a systematic review and meta-analysis

New Diagnostic Approach to Arrhythmogenic Cardiomyopathy: The Padua Criteria

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