Left Ventricular Involvement in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Assessed by Echocardiography Predicts Adverse Clinical Outcome
“…Later it was recognized that ACM is not limited to the RV and that the LV is frequently involved not only in end stage disease, but also in early stages. 12,13 In addition, desmosomal ACM may show predominant LV involvement, particularly in desmoplakin mutation carriers. 14 In the present study patients with desmosomal mutations revealed RV fibrofatty changes and fibrosis with fatty changes in the outer part of the LV wall, predominantly in the posterolateral part.…”
“…Later it was recognized that ACM is not limited to the RV and that the LV is frequently involved not only in end stage disease, but also in early stages. 12,13 In addition, desmosomal ACM may show predominant LV involvement, particularly in desmoplakin mutation carriers. 14 In the present study patients with desmosomal mutations revealed RV fibrofatty changes and fibrosis with fatty changes in the outer part of the LV wall, predominantly in the posterolateral part.…”
“…In advanced stages of ARVC, the left ventricle is commonly involved (123). The characteristic pathological feature of ARVC is excess fibro-adipocytes in the ventricle replacing cardiac myocytes (Figure 4) (124–127). …”
Section: Genetic Basis Of Hereditary Cardiomyopathiesmentioning
This is the first of 2 review papers on genetics and genomics appearing as part of the series on “omics.” Genomics pertains to all components of an organism’s genes, whereas genetics involves analysis of a specific gene(s) in the context of heredity. The paper provides introductory comments, describes the basis of human genetic diversity, and addresses the phenotypic consequences of genetic variants. Rare variants with large effect sizes are responsible for single-gene disorders, whereas complex polygenic diseases are typically due to multiple genetic variants, each exerting a modest effect size. To illustrate the clinical implications of genetic variants with large effect sizes, 3 common forms of hereditary cardiomyopathies are discussed as prototypic examples of single-gene disorders, including their genetics, clinical manifestations, pathogenesis, and treatment. The genetic basis of complex traits is discussed in a separate paper.
“…In a recent study including 69 patients with ARVC, the presence of abnormalities on CMR (right ventricular dilatation, wall motion abnormalities, LGE or LV, and biventricular involvement) was associated with development of ventricular arrhythmias; specifically, the presence of right ventricular LGE was only observed in patients presenting with arrhythmic events 65. Assessment of global LV longitudinal strain with speckle tracking echocardiography has demonstrated that LV involvement in ARVC patients demonstrated by impaired global LV longitudinal strain was independently associated with the occurrence of ventricular tachycardia, SCD, and appropriate ICD therapies 66. If confirmed in larger studies, the results may have important implications, since in many ARVC patients LV involvement occurs at a late stage of the disease, and earlier detection of LV dysfunction may identify the patients who may potentially benefit from an ICD.Figure 5Cardiac magnetic resonance in arrhythmogenic right ventricular cardiomyopathy.…”
Accurate prediction of sudden cardiac death due to ventricular arrhythmia remains challenging. Left ventricular ejection fraction has shown an association with increased risk of ventricular arrhythmias and is included in the recommendations for implantable cardioverter defibrillator as primary prevention. However, left ventricular ejection fraction may be normal in a large number of patients who are at risk of ventricular arrhythmias. Echocardiography remains the imaging technique of first choice to rule out the presence of structural heart disease and assess left and right ventricular function. Advances in strain echocardiography and cardiac magnetic resonance have provided important insights into the mechanisms of ventricular arrhythmias, and will be summarized in this review.
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