Cardiac Magnetic Resonance Imaging Macroscopic Fibro-Fatty Infiltration of the Myocardium in Pediatric Patients with Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

Slesnick, Timothy; Parks, W. James; Poulik, Janet; Al-Haddad, Eman; Vickery, Jasmine; Eskarous, Hany; Youssef, Lara; Mangal, Ruchi; Shehata, Bahig M.

doi:10.1080/15513815.2019.1675108

Cited by 5 publications

(2 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In 2015, Etoom et al showed that conventional CMR criteria were the strongest contributor to TFC fulfillment in children with ARVC, with almost half of the study population relying on CMR criteria for diagnosis (21). While fatty infiltration and delayed enhancement were rare in this Canadian cohort, a subsequent case series by Slesnick et al showed that CMR can be highly valuable in determining fibrofatty replacement in pediatric ARVC subjects (22). Similar findings were observed by Steinmetz et al who showed that any TFC fulfillment on imaging was associated with definite ARVC diagnosis in children with an odds ratio of 8.68 (23).…”

Section: Arrhythmiasmentioning

confidence: 89%

Arrhythmogenic Right Ventricular Cardiomyopathy in Pediatric Patients: An Important but Underrecognized Clinical Entity

et al. 2021

View full text Add to dashboard Cite

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by fibrofatty infiltration of predominantly the right ventricular (RV) myocardium. Affected patients typically present as young adults with hemodynamically stable ventricular tachycardia, although pediatric cases are increasingly recognized. These young subjects often have a more severe phenotype with a high risk of sudden cardiac death (SCD) and progression toward heart failure. Diagnosis of ARVC is made by combining multiple sources of information as prescribed by the consensus-based Task Force Criteria. The description of Naxos disease, a fully penetrant autosomal recessive disorder that is associated with ARVC and a cutaneous phenotype of palmoplantar keratoderma and wooly hair facilitated the identification of the genetic cause of ARVC. At present, approximately 60% of patients are found to carry a pathogenic variant in one of five genes associated with the cardiac desmosome. The incomplete penetrance and variable expressivity of these variants however implies an important role for environmental factors, of which participation in endurance exercise is a strong risk factor. Since there currently is no definite cure for ARVC, disease management is directed toward symptom reduction, delay of disease progression, and prevention of SCD. This clinically focused review describes the spectrum of ARVC among children and adolescents, the genetic architecture underlying this disease, the cardio-cutaneous syndromes that led to its identification, and current diagnostic and therapeutic strategies in pediatric ARVC subjects.

show abstract

Section: Arrhythmiasmentioning

confidence: 89%

Arrhythmogenic Right Ventricular Cardiomyopathy in Pediatric Patients: An Important but Underrecognized Clinical Entity

et al. 2021

View full text Add to dashboard Cite

show abstract

“…Ventricular dysfunction often develops with progression of the disease leading to heart failure in some cases ( Sen-Chowdhry and McKenna, 2010 ). ACM is frequently associated with fibro-fatty replacement of the myocardium ( Slesnick et al, 2019 ). For a long time, the disease was referred to as arrhythmogenic right ventricular cardiomyopathy (ARVC) because the phenotype description was more focused on features of the right ventricle; however, increasing awareness of left ventricular and biventricular involvement led to the term “ACM” ( Sen-Chowdhry et al, 2010 ).…”

Section: Introductionmentioning

confidence: 99%

Genetic Animal Models for Arrhythmogenic Cardiomyopathy

Gerull

Brodehl

2020

Front. Physiol.

View full text Add to dashboard Cite

Arrhythmogenic cardiomyopathy has been clinically defined since the 1980s and causes right or biventricular cardiomyopathy associated with ventricular arrhythmia. Although it is a rare cardiac disease, it is responsible for a significant proportion of sudden cardiac deaths, especially in athletes. The majority of patients with arrhythmogenic cardiomyopathy carry one or more genetic variants in desmosomal genes. In the 1990s, several knockout mouse models of genes encoding for desmosomal proteins involved in cell–cell adhesion revealed for the first time embryonic lethality due to cardiac defects. Influenced by these initial discoveries in mice, arrhythmogenic cardiomyopathy received an increasing interest in human cardiovascular genetics, leading to the discovery of mutations initially in desmosomal genes and later on in more than 25 different genes. Of note, even in the clinic, routine genetic diagnostics are important for risk prediction of patients and their relatives with arrhythmogenic cardiomyopathy. Based on improvements in genetic animal engineering, different transgenic, knock-in, or cardiac-specific knockout animal models for desmosomal and nondesmosomal proteins have been generated, leading to important discoveries in this field. Here, we present an overview about the existing animal models of arrhythmogenic cardiomyopathy with a focus on the underlying pathomechanism and its importance for understanding of this disease. Prospectively, novel mechanistic insights gained from the whole animal, organ, tissue, cellular, and molecular levels will lead to the development of efficient personalized therapies for treatment of arrhythmogenic cardiomyopathy.

show abstract