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Publisher’s Note: We Changed Page Numbers to Article Numbers for Articles Published in Cardiogenetics Volume 1–Volume 10, Issue 1
Review

Clinical and Molecular Characteristics of Patients with PLN R14del Cardiomyopathy: State-of-the-Art Review

Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, AORN Ospedali dei Colli–Monaldi Hospital, 80131 Naples, Italy
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Academic Editor: Dominique P. Germain
Cardiogenetics 2022, 12(1), 112-121; https://doi.org/10.3390/cardiogenetics12010012
Received: 2 January 2022 / Revised: 23 February 2022 / Accepted: 1 March 2022 / Published: 2 March 2022
The deletion of the arginine 14 codon (R14del) in the phospholamban (PLN) gene is a rare cause of arrhythmogenic cardiomyopathy (ACM) and is associated with prevalent ventricular arrhythmias, heart failure, and sudden cardiac death. The pathophysiological mechanism which culminates in the ACM phenotype is multifactorial and mainly based on the alteration of the endoplasmic reticulum proteostasis, mitochondrial dysfunction and compromised Ca2+ cytosolic homeostasis. The symptoms of this condition are usually non-specific and consist of arrhythmia-related or heart failure-related manifestation; however, some peculiar diagnostic clues were detected, such as the T-wave inversion in the lateral leads, low QRS complexes voltages, mid-wall or epicardial fibrosis of the inferolateral wall of the left ventricle, and their presence should raise the suspicion of this condition. The risk stratification for sudden cardiac death is mandatory and several predictors were identified in recent years. However, the management of affected patients is often challenging due to the absence of specific prediction tools and therapies. This review aims to provide the current state of the art of PLN R14del cardiomyopathy, focusing on its pathophysiology, clinical manifestation, risk stratification for sudden cardiac death, and management. View Full-Text
Keywords: arrhythmogenic cardiomyopathy; phospholamban; sudden cardiac death arrhythmogenic cardiomyopathy; phospholamban; sudden cardiac death
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MDPI and ACS Style

Monda, E.; Blasi, E.; De Pasquale, A.; Di Vilio, A.; Amodio, F.; Caiazza, M.; Diana, G.; Lioncino, M.; Perna, A.; Verrillo, F.; Martucci, M.L.; Munciguerra, O.; Vergara, A.; Limongelli, G. Clinical and Molecular Characteristics of Patients with PLN R14del Cardiomyopathy: State-of-the-Art Review. Cardiogenetics 2022, 12, 112-121. https://doi.org/10.3390/cardiogenetics12010012

AMA Style

Monda E, Blasi E, De Pasquale A, Di Vilio A, Amodio F, Caiazza M, Diana G, Lioncino M, Perna A, Verrillo F, Martucci ML, Munciguerra O, Vergara A, Limongelli G. Clinical and Molecular Characteristics of Patients with PLN R14del Cardiomyopathy: State-of-the-Art Review. Cardiogenetics. 2022; 12(1):112-121. https://doi.org/10.3390/cardiogenetics12010012

Chicago/Turabian Style

Monda, Emanuele, Ettore Blasi, Antonio De Pasquale, Alessandro Di Vilio, Federica Amodio, Martina Caiazza, Gaetano Diana, Michele Lioncino, Alessia Perna, Federica Verrillo, Maria L. Martucci, Orlando Munciguerra, Andrea Vergara, and Giuseppe Limongelli. 2022. "Clinical and Molecular Characteristics of Patients with PLN R14del Cardiomyopathy: State-of-the-Art Review" Cardiogenetics 12, no. 1: 112-121. https://doi.org/10.3390/cardiogenetics12010012

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