Review on the genetics of arrhythmogenic right ventricular dysplasia

Moric-Janiszewska, Ewa; Markiewicz-Łoskot, Grażyna

doi:10.1093/europace/eum034

Cited by 35 publications

(21 citation statements)

References 45 publications

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“…Although it is often sporadic, in 35% to 50% of cases a family history is apparent. Thus far, mutations in 6 genes have been implicated in the pathogenesis of the disorder 97 (Table 3). Five of the genes encode cell-cell adhesion proteins (plakoglobin, 98 -100 desmoplakin, 101,102 plakophilin-2, 103 desmocolin-2, 104,105 and desmoglein-2 106 ).…”

Section: Arrhythmogenic Right Ventricular Dysplasia: a Disorder Of Thmentioning

confidence: 99%

Genetic Determinants of Sudden Cardiac Death

Noseworthy

Newton‐Cheh

2008

Circulation

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Sudden cardiac death (SCD) is the final common end point of multiple disease processes. It results from a complex interplay of structural, metabolic, and genetic determinants. Although epidemiological risk factors such as age, prior myocardial infarction, and low ejection fraction are well established, this syndrome also has a strong genetic component. An understanding of the genetic contributions to risk could add substantially to the prediction and prevention of SCD. In this review, we explore the epidemiology, heritability, and allelic architecture of SCD and provide a detailed overview of the genetics of inherited electrophysiological and structural heart diseases that are potent risk factors for SCD. At the population level, the conventional cardiac risk factors are powerful risk factors for SCD. For example, diabetes mellitus is associated with a marked increase in risk of SCD (odds ratioϭ1.7 without microvascular disease; odds ratioϭ2.7 with microvascular disease). 3 Among subjects with known coronary artery disease, smoking is linked to an increase in risk of SCD (hazard ratioϭ2.5). 4 In a multivariate analysis from the Paris Prospective Study, a 42-mg/dL increase in total cholesterol (1 SD of the sample variation) was associated with a 23% increased risk of SCD. In the same analysis, an increase of 20 mm Hg in systolic blood pressure was associated with a 23% increase in the risk of SCD. 5 Furthermore, data from the Framingham Heart Study demonstrate that left ventricular hypertrophy is a risk factor for ventricular arrhythmias 6 and SCD. 7 Regular high-intensity exercise appears to be associated with a lower rate of SCD, 8 although the risk is transiently increased in the 30 minutes immediately after vigorous exercise. 8 -10 Advances in the treatment of these risk factors may be partly responsible for the decline in cardiovascular mortality over the past 20 years, 11,12 but the burden of SCD remains high. The primary challenge to reducing the rate of SCD is that the bulk of events occur without warning and in patients with few identifiable risk factors (Figure 1). 13 For example, although an ejection fraction of Ͻ35% is a powerful risk factor for SCD and a current indication for implantable cardioverter-defibrillator implantation, only one third of SCD victims have a low ejection fraction. 14 The conventional coronary risk factors and presence of congestive heart failure are associated with SCD in the general population but have poor ability to predict SCD at the individual level because of their prevalence and comparatively modest effects on risk. Epidemiology of SCDAt the individual level, separating risk factors for all-cause cardiovascular mortality from risk factors for primary arrhythmia has been challenging. Among post-myocardial infarction patients who are known to be at risk of SCD, electrophysiological evaluation has been the most powerful tool in current clinical use to refine individual risk stratification. 15 Current measures that have been examined with varying predictive power include ...

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Section: Arrhythmogenic Right Ventricular Dysplasia: a Disorder Of Thmentioning

confidence: 99%

Genetic Determinants of Sudden Cardiac Death

Noseworthy

Newton‐Cheh

2008

Circulation

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“…Some authors have suggested an inflammatory theory about cardiotropic viruses [7]. Others have proposed a dystrophic theory according to which myocyte death could be due to some genetic defects [8]. To support this theory some altered genes have been described [9][10][11][12][13][14][15][16][17][18][19].…”

Section: Discussionmentioning

confidence: 99%

“…In addition, there was no familial history of cardiac disease to support a diagnosis of RV cardiomyopathy considering the fact that ARVD has a familial occurrence in about 50% of cases, with autosomal dominant inheritance and variable penetrance as well as a polymorphic phenotypic expression [8].…”

Section: Two Unusual Cases Of Sudden Death In Children 71mentioning

confidence: 99%

Two Unusual Cases of Sudden Death in Children

Osterheld

Perez²

2013

OJPathology

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We report two unusual cases of sudden unexpected death in children. Histopathologic examination showed intimal fibroplasias, a variant of fibromuscular dysplasia of the right coronary artery associated in both cases with fatty infiltration of the right ventricular myocardium. The significance of this particular combination of two lesions known to induce a sudden death in young people is discussed.

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“…To date, almost 50 different mutations in PKP-2 have been reported [4,37]. Meanwhile, autosomal dominant mutations in other desmosomal genes have also been described [4,64,85], e.g., desmoplakin [80], desmoglein [75], desmocollin [91], and plakoglobin [3]. ARVC is now recognized mainly as a "disease of the desmosome" [4,9,58,95].…”

Section: Arrhythmogenic Right Ventricular Cardiomyopathy (Arvc) Diagnmentioning

confidence: 99%

Genes Causing Inherited Forms of Cardiomyopathies

Paul

Zumhagen

Stallmeyer

et al. 2009

Herz

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Cardiomyopathies (diseases of the heart muscle) are a relevant but heterogeneous group of cardiac diseases. The underlying structural myocardial alterations, detectable with contemporary cardiac imaging modalities and also on twelve-lead surface ECG, embody both linkage and differentiation of the respective clinical forms. Most of these are defined to the heart, however, cardiac involvement is also known in the presence of specific metabolic or muscular systemic diseases. In many of the known cardiomyopathies, a genetic background has been elucidated thus indicating a potential familial disease. This, in turn, also harbors the risk that more family members may be affected besides the index patient.

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Review on the genetics of arrhythmogenic right ventricular dysplasia

Cited by 35 publications

References 45 publications

Genetic Determinants of Sudden Cardiac Death

Genetic Determinants of Sudden Cardiac Death

Two Unusual Cases of Sudden Death in Children

Genes Causing Inherited Forms of Cardiomyopathies

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