Arrhythmogenic Right Ventricular Cardiomyopathy: A Review of Living and Deceased Probands

Blusztein, David; Zentner, Dominica; Thompson, T.; Jayadeva, P.; Liang, Degang; Wang, Ray; Winship, Ingrid; James, Paul; Trainer, Alison H.; Kalman, Jonathan M.; Vohra, Jitendra K.

doi:10.1016/j.hlc.2018.07.017

Cited by 6 publications

(3 citation statements)

References 39 publications

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“…ALVC caused by desmoplakin variants can also be present with absent to severe LV dysfunction and may present with sudden death. 81 Preliminary experience indicates that LGE on CMR can be present in the absence of LV dysfunction and may provide an early diagnostic feature when LV arrhythmia appears to have occurred in isolation. 31…”

Section: Cardiac Imagingmentioning

confidence: 99%

2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy

et al. 2019

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This international consensus statement is intended to help cardiologists and other health care professionals involved in the care of adult and pediatric patients with arrhythmogenic cardiomyopathy (ACM), which encompasses a broad range of disorders, by providing recommendations for evaluation and management and supporting shared decision making between health care providers and patients in a document format that is also useful at the point of care.This consensus statement was written by experts in the field chosen by the Heart Rhythm Society (HRS) and collaborating organizations.

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Section: Cardiac Imagingmentioning

confidence: 99%

2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy

et al. 2019

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“…DSP mutation is associated with LV involvement and may be indicative of worse prognosis and elevated SCD risk [39] . Docekal et al [40] identified a novel DSP gene mutation ( c.3735_3741dupAAATCGA ) in a 54-year-old male patient who suffered unheralded syncope and SCD while running.…”

Section: Dsp Cardiomyopathy Clinical Manifestationsmentioning

confidence: 99%

“…[37] DSP mutation is associated with LV involvement and may be indicative of worse prognosis and elevated SCD risk. [39] Docekal et al [40] identified a novel DSP gene mutation (c.3735_3741dupAAATCGA) in a 54-year-old male patient who suffered unheralded syncope and SCD while running. After coronary angiography had excluded any epicardial coronary artery disease, cardiac magnetic resonance (CMR) revealed severe LV global hypokinesis, LV dilation, and mid-myocardial delayed enhancement in the basal to apical inferoseptal wall.…”

Section: Left-dominant Acmmentioning

confidence: 99%

Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy

Yuan

Cheng

Wang

et al. 2021

Chinese Medical Journal

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Desmoplakin (DSP), encoded by the DSP gene, is the main desmosome component and is abundant in the myocardial tissue. There are three DSP isoforms that assume the role of supporting structural stability through intercellular adhesion. It has been found that DSP regulates the transcription of adipogenic and fibrogenic genes, and maintains appropriate electrical conductivity by regulating gap junctions and ion channels. DSP is essential for normal myocardial development and the maintenance of its structural functions. Studies have suggested that DSP gene mutations are associated with a variety of hereditary cardiomyopathy, such as arrhythmia cardiomyopathy, dilated cardiomyopathy (DCM), left ventricular noncompaction, and is also closely associated with the Carvajal syndrome, Naxos disease, and erythro-keratodermia-cardiomyopathy syndrome with skin and heart damage. The structure and function of DSP, as well as the clinical manifestations of DSP-related cardiomyopathy were reviewed in this article.

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Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents

DeWitt

Chandler

Hylind

et al. 2019

Journal of the American College of Cardiology

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Arrhythmogenic Right Ventricular Cardiomyopathy: A Review of Living and Deceased Probands

Cited by 6 publications

References 39 publications

2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy

2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy

Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy

Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents

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