Arrhythmogenic cardiomyopathies (ACs): diagnosis, risk stratification and management

Protonotarios, Alexandros; Elliott, Perry

doi:10.1136/heartjnl-2017-311160

Cited by 16 publications

(20 citation statements)

References 93 publications

(51 reference statements)

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“…Initial description of the disease supported the hypothesis of a right ventricle (RV) condition. LV involvement was then described as the disease progressed, and lately, typical primary LV forms have been recognized [32,33]. When LV function is preserved, the cardiac output is maintained and predominant symptoms are secondary to life threatening ventricular arrhythmia.…”

Section: Genetic Causes Of Cardiomyopathiesmentioning

confidence: 99%

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Genetic Factors Involved in Cardiomyopathies and in Cancer

Sabater-Molina

Navarro-Peñalver

Muñoz‐Esparza

et al. 2020

JCM

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Cancer therapy-induced cardiomyopathy (CCM) manifests as left ventricular (LV) dysfunction and heart failure (HF). It is associated withparticular pharmacological agents and it is typically dose dependent, but significant individual variability has been observed. History of prior cardiac disease, abuse of toxics, cardiac overload conditions, age, and genetic predisposing factors modulate the degree of the cardiac reserve and the response to the injury. Genetic/familial cardiomyopathies (CMY) are increasingly recognized in general populations with an estimated prevalence of 1:250. Association between cardiac and oncologic diseases regarding genetics involves not only the toxicity process, but pathogenicity. Genetic variants in germinal cells that cause CMY (LMNA, RAS/MAPK) can increase susceptibility for certain types of cancer. The study of mutations found in cancer cells (somatic) has revealed the implication of genes commonly associated with the development of CMY. In particular, desmosomal mutations have been related to increased undifferentiation and invasiveness of cancer. In this article, the authors review the knowledge on the relevance of environmental and genetic background in CCM and give insights into the shared genetic role in the pathogenicity of the cancer process and development of CMY.

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Section: Genetic Causes Of Cardiomyopathiesmentioning

confidence: 99%

“…ACM is the most inflammatory idiopathic cardiomyopathy that can develop in the crisis of myocarditis [32,34]. ACM is a disease characterized by the loss of myocardial tissue and subsequent fibro-fatty replacement [32]. Initial description of the disease supported the hypothesis of a right ventricle (RV) condition.…”

Section: Genetic Causes Of Cardiomyopathiesmentioning

confidence: 99%

Genetic Factors Involved in Cardiomyopathies and in Cancer

Sabater-Molina

Navarro-Peñalver

Muñoz‐Esparza

et al. 2020

JCM

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“…13 Finally, dysfunctional Ca 2+ dynamics appears to be a key pathological mechanism observed in hiPSC-CM models of HCM, although this is not consistently reflected in changes to contractile force or kinetics. 53,54 Finally, although ACM was initially believed to be a disease affecting just the right ventricle and was characterized by ventricular arrhythmias and fibrofatty tissue deposits in the myocardium, 55 the identification of its genetic basis as well as the phenotyping of large patient cohorts determined that both ventricles could be affected. 56 The predominantly hereditary disease affects~1:5000 individuals and is associated with genetic mutations mainly in desmosomal proteins.…”

Section: Cardiomyopathiesmentioning

confidence: 99%

“…56 The predominantly hereditary disease affects~1:5000 individuals and is associated with genetic mutations mainly in desmosomal proteins. 55 As a consequence of late disease onset and the involvement of epicardial cells in mediating the fibrofatty tissue infiltration, 57 investigating the ACM phenotype and pathophysiology in hiPSC-CM models has been challenging. However, by metabolically maturing the hiPSC-CMs, increased lipogenesis and apoptosis plus abnormal Ca 2+ handling were detected in the cardiomyocytes with PKP2 mutations.…”

Section: Cardiomyopathiesmentioning

confidence: 99%

Inherited cardiac diseases, pluripotent stem cells, and genome editing combined—the past, present, and future

et al. 2019

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Research on mechanisms underlying monogenic cardiac diseases such as primary arrhythmias and cardiomyopathies has until recently been hampered by inherent limitations of heterologous cell systems, where mutant genes are expressed in noncardiac cells, and physiological differences between humans and experimental animals. Human-induced pluripotent stem cells (hiPSCs) have proven to be a game changer by providing new opportunities for studying the disease in the specific cell type affected, namely the cardiomyocyte. hiPSCs are particularly valuable because not only can they be differentiated into unlimited numbers of these cells, but they also genetically match the individual from whom they were derived. The decade following their discovery showed the potential of hiPSCs for advancing our understanding of cardiovascular diseases, with key pathophysiological features of the patient being reflected in their corresponding hiPSC-derived cardiomyocytes (the past). Now, recent advances in genome editing for repairing or introducing genetic mutations efficiently have enabled the disease etiology and pathogenesis of a particular genotype to be investigated (the present). Finally, we are beginning to witness the promise of hiPSC in personalized therapies for individual patients, as well as their application in identifying genetic variants responsible for or modifying the disease phenotype (the future). In this review, we discuss how hiPSCs could contribute to improving the diagnosis, prognosis, and treatment of an individual with a suspected genetic cardiac disease, thereby developing better risk stratification and clinical management strategies for these potentially lethal but treatable disorders.

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“…The Education in Hea rt article in this issue7 provides a concise overview for the diagnosis, risk stratification and management of arrhythmogenic cardiomyopathies, including indications for placement of an implantable defibrillation and family screening (figure 3). A second review article provides a simple approach to the standard ECG to identify the anatomic origin of idiopathic ventricular arrhythmias 8…”

mentioning

confidence: 99%

Heartbeat: Balance of safety and efficacy of antihypertensive treatment in elderly patients

Otto

2019

Heart

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Arrhythmogenic cardiomyopathies (ACs): diagnosis, risk stratification and management

Cited by 16 publications

References 93 publications

Genetic Factors Involved in Cardiomyopathies and in Cancer

Genetic Factors Involved in Cardiomyopathies and in Cancer

Inherited cardiac diseases, pluripotent stem cells, and genome editing combined—the past, present, and future

Heartbeat: Balance of safety and efficacy of antihypertensive treatment in elderly patients

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