Prenatal Echocardiographic Appearance of Arrhythmogenic Right Ventricle Dysplasia: A Case Report

Rustico, Maria Angela; Benettoni, Alessandra; Fontaliran, F; Fontaine, G.

doi:10.1159/000053954

Cited by 11 publications

(4 citation statements)

References 17 publications

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“…Prenatal onset has been reported in some desmosomal mouse models of ARVC. 13 In human ARVC, the diagnosis might be difficult before the age of 10 years, 1 although cases of ARVC in infants, 43 and even in the embryo, 44 have also been reported. In the present study, we have demonstrated that Rho-kinase deficiency in the embryonic heart resulted in abnormal cardiac development, involving ventricular thinning and reduced cardiac proliferation.…”

Section: Rho-kinase Signaling and Arvc 2181mentioning

confidence: 99%

Rho-Kinase Inhibition During Early Cardiac Development Causes Arrhythmogenic Right Ventricular Cardiomyopathy in Mice

Ellawindy

Satoh

Sunamura

et al. 2015

ATVB

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Objective— Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by fibrofatty changes of the right ventricle, ventricular arrhythmias, and sudden death. Though ARVC is currently regarded as a disease of the desmosome, desmosomal gene mutations have been identified only in half of ARVC patients, suggesting the involvement of other associated mechanisms. Rho-kinase signaling is involved in the regulation of intracellular transport and organizes cytoskeletal filaments, which supports desmosomal protein complex at the myocardial cell–cell junctions. Here, we explored whether inhibition of Rho-kinase signaling is involved in the pathogenesis of ARVC. Approach and Results— Using 2 novel mouse models with SM22α- or αMHC-restricted overexpression of dominant-negative Rho-kinase, we show that mice with Rho-kinase inhibition in the developing heart (SM22α-restricted) spontaneously develop cardiac dilatation and dysfunction, myocardial fibrofatty changes, and ventricular arrhythmias, resulting in premature sudden death, phenotypes fulfilling the criteria of ARVC in humans. Rho-kinase inhibition in the developing heart results in the development of ARVC phenotypes in dominant-negative Rho-kinase mice through 3 mechanisms: (1) reduction of cardiac cell proliferation and ventricular wall thickness, (2) stimulation of the expression of the proadipogenic noncanonical Wnt ligand, Wnt5b, and the major adipogenic transcription factor, PPARγ (peroxisome proliferator activated receptor-γ), and inhibition of Wnt/β-catenin signaling, and (3) development of desmosomal abnormalities. These mechanisms lead to the development of cardiac dilatation and dysfunction, myocardial fibrofatty changes, and ventricular arrhythmias, ultimately resulting in sudden premature death in this ARVC mouse model. Conclusions— This study demonstrates a novel crucial role of Rho-kinase inhibition during cardiac development in the pathogenesis of ARVC in mice.

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Section: Rho-kinase Signaling and Arvc 2181mentioning

confidence: 99%

Rho-Kinase Inhibition During Early Cardiac Development Causes Arrhythmogenic Right Ventricular Cardiomyopathy in Mice

Ellawindy

Satoh

Sunamura

et al. 2015

ATVB

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“…In retrospective studies, primary CMs were categorized either as hypertrophic or nonhypertrophic/dilated phenotypes, with some further differentiating a mixed phenotype, suggesting that a simplifying classification appears to be more accurate and reproducible [ 5 , 6 , 8 ]. However, increased sophistication in ultrasound technologies has proposed a more detailed classification encompassing RCM and isolated NCCM, taking varying prognostic parameters and adapted prenatal genetic testing into account [ 7 , 24 , 25 ]. Consequently, in the absence of standardized guidelines and multiple definitions in use, the distribution of fetal phenotypes remains unclear with a prevalence of HCM varying from 18.0% to 60.0% and of DCM from 11.0% to 72.0%, as the most common subgroups [ 5 , 6 , 8 ].…”

Section: Discussionmentioning

confidence: 99%

Spectrum and Outcome of Prenatally Diagnosed Fetal Primary Cardiomyopathies—A Twenty-Year Overview

Walter

Calite

Geipel

et al. 2023

JCM

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Objective: to assess the course and outcome of fetuses affected by primary cardiomyopathy (CM). Methods: Retrospective study of 21 cases with prenatal diagnosis of a primary CM in one tertiary center over a period of 20 years. Charts were reviewed for echocardiographic findings, pregnancy outcome, and postnatal course. The utility of prenatal evaluation was discussed. Results: The mean gestational age (GA) at diagnosis was 26.7 (±5.1) weeks. A total of 33.3% (7/21) had associated anomalies. Genetic etiology was confirmed in 50.0% (10/20, with one case lost to follow up). The overall survival rate of the entire study population was 40% (8/20) including termination of pregnancy in 20% (4/20) and an intrauterine mortality rate of 5% (1/20). Of the initial survivors (n = 15), a neonatal and early infant mortality rate of 46.7% (7/15) was calculated. Prenatal isolated right ventricular involvement was the only identified significant parameter for survival (p = 0.035). Four phenotypical groups were identified: 42.9% (9/21) hypertrophic (HCM), 38.1% (8/21) dilated (DCM), 14.3% (3/21) isolated noncompaction (NCCM), and 4.8% (1/21) restrictive CM (RCM). Fetuses assigned to isolated NCCM revealed a 100% survival rate. Conclusion: Prenatal detection is feasible but needs to a introduce classification method for better consulting and management practices. A poor outcome is still observed in many cases, but an increase in examiners’ awareness may influence optimal multispecialized care.

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“…Even though our patient had some of the cardinal features of ARVD 6 (RV dilation/dysfunction and arrhythmia), the diagnosis was only confirmed after the histological findings, as fetal presentation of this disease is rare and literature covering this scope is scarce. 2 …”

Section: Discussionmentioning

confidence: 99%

“… 1 In 30-90% of cases, it is an inherited condition, with an autosomal dominant form of transmission. 2 Disease expression is variable. In this article, we discuss a rare case of fetal ARVD and its difficult prenatal diagnosis, only confirmed at post-natal autopsy.…”

Section: Introductionmentioning

confidence: 99%

A Prenatal Case of Arrhythmogenic Right Ventricular Dysplasia

Lopes¹,

Pacheco²,

Schultz³

et al. 2018

Arquivos Brasileiros De Cardiologia

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Prenatal Echocardiographic Appearance of Arrhythmogenic Right Ventricle Dysplasia: A Case Report

Cited by 11 publications

References 17 publications

Rho-Kinase Inhibition During Early Cardiac Development Causes Arrhythmogenic Right Ventricular Cardiomyopathy in Mice

Rho-Kinase Inhibition During Early Cardiac Development Causes Arrhythmogenic Right Ventricular Cardiomyopathy in Mice

Spectrum and Outcome of Prenatally Diagnosed Fetal Primary Cardiomyopathies—A Twenty-Year Overview

A Prenatal Case of Arrhythmogenic Right Ventricular Dysplasia

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