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33 pages, 15086 KiB

Open AccessReview

Broad Electrocardiogram Syndromes Spectrum: From Common Emergencies to Particular Electrical Heart Disorders—Part II

by Alexandr Ceasovschih, Anastasia Balta, Victorița Șorodoc, Krishnaraj Rathod, Ahmed El Gohary, Serghei Covantsev, Richárd Masszi, Yusuf Ziya Şener, Alexandru Corlăteanu, Syed Haseeb Raza Naqvi, Alexandra Grejdieru, Nicholas G. Kounis and Laurențiu Șorodoc

Diagnostics 2025, 15(12), 1568; https://doi.org/10.3390/diagnostics15121568 - 19 Jun 2025

Viewed by 2664

Abstract

The electrocardiogram (ECG) remains a cornerstone of modern cardiology, providing rapid, non-invasive, and widely accessible diagnostic insights. While ECG interpretation is an essential skill for clinicians, certain patterns can be subtle or atypical, posing diagnostic challenges. In our previous review (doi.org/10.3390/jpm12111754), we explored several uncommon ECG syndromes with significant clinical implications. However, the spectrum of electrocardiographic abnormalities extends far beyond those initially discussed. In this second installment, we expand our discussion of rare and underrecognized ECG syndromes, including Long QT, Jervell and Lange-Nielsen, Romano–Ward, Andersen–Tawil, Timothy, Short QT, and Twiddler’s syndromes, as well as Noonan, Barlow’s, Bundgaard, BRASH, Carvajal, Naxos, and Danon disease. We highlight their clinical context, characteristic findings, and implications for diagnosis and management. These conditions range from acute, life-threatening emergencies requiring immediate intervention to chronic electrical disorders necessitating long-term monitoring and risk stratification. By broadening our focus, we aim to enhance awareness and recognition of these entities, ultimately improving patient outcomes through timely and accurate diagnosis. Full article

(This article belongs to the Special Issue New Radiological, Electrocardiographic and Biochemical Cardiovascular Risk Factors in 2025)

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11 pages, 1048 KiB

Open AccessReview

Desmoplakin Cardiomyopathy: Comprehensive Review of an Increasingly Recognized Entity

by Mariana Brandão, Riccardo Bariani, Ilaria Rigato and Barbara Bauce

J. Clin. Med. 2023, 12(7), 2660; https://doi.org/10.3390/jcm12072660 - 3 Apr 2023

Cited by 23 | Viewed by 5660

Abstract

Desmoplakin (DSP) is a desmosomal protein that plays an essential role for cell-to-cell adhesion within the cardiomyocytes. The first association between DSP genetic variants and the presence of a myocardial disease referred to patients with Carvajal syndrome. Since then, several reports have linked the DSP gene to familial forms of arrhythmogenic (ACM) and dilated cardiomyopathies. Left-dominant ACM is the most common phenotype in individuals carrying DSP variants. More recently, a new entity—“Desmoplakin cardiomyopathy”—was described as a distinct form of cardiomyopathy characterized by frequent left ventricular involvement with extensive fibrosis, high arrhythmic risk, and episodes of acute myocardial injury. The purpose of this review was to summarize the available evidence on DSP cardiomyopathy and to identify existing gaps in knowledge that need clarification from upcoming research. Full article

(This article belongs to the Section Cardiovascular Medicine)

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13 pages, 2679 KiB

Open AccessReview

Diagnostic Challenges in Rare Causes of Arrhythmogenic Cardiomyopathy—The Role of Cardiac MRI

by Simona Manole, Roxana Pintican, George Popa, Raluca Rancea, Alexandra Dadarlat-Pop, Romana Vulturar and Emanuel Palade

J. Pers. Med. 2022, 12(2), 187; https://doi.org/10.3390/jpm12020187 - 31 Jan 2022

Cited by 5 | Viewed by 3696

Abstract

Arrhythmogenic right ventricular dysplasia (ARVD) is a rare genetic condition of the myocardium, with a significantly high risk of sudden death. Recent genetic research and improved understanding of the pathophysiology tend to change the ARVD definition towards a larger spectrum of myocardial involvement, which includes, in various proportions, both the right (RV) and left ventricle (LV), currently referred to as ACM (arrhythmogenic cardiomyopathy). Its pathological substrate is defined by the replacement of the ventricular myocardium with fibrous adipose tissue that further leads to inadequate electrical impulses and translates into varies degrees of malignant ventricular arrythmias and dyskinetic myocardium movements. Particularly, the cardio-cutaneous syndromes of Carvajal/Naxos represent rare causes of ACM that might be suspected from early childhood. The diagnostic is sometimes challenging, even with well-established rTFC or Padua criteria, especially for pediatric patients or ACM with LV involvement. Cardiac MRI gain more and more importance in ACM diagnostic especially in non-classical forms. Furthermore, MRI is useful in highlighting myocardial fibrosis, fatty replacement or wall movement with high accuracy, thus guiding not only the depiction, but also the patient’s stratification and management. Full article

(This article belongs to the Special Issue Cardiomyopathy and Precision Medicine)

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