Endomyocardial Biopsy: The Forgotten Piece in the Arrhythmogenic Cardiomyopathy Puzzle

Casella, Michela; Bergonti, Marco; Russo, Antonio Dello; Maragna, Riccardo; Gasperetti, Alessio; Compagnucci, Paolo; Catto, Valentina; Trombara, Filippo; Frappampina, Antonio; Conte, Edoardo; Fogante, Marco; Sommariva, Elena; Rizzo, Stefania; Gaspari, Monica De; Giovagnoni, Andrea; Andreini, Daniele; Pompilio, Giulio; Biase, Luigi Di; Tondo, Claudio

doi:10.1161/jaha.121.021370

Cited by 18 publications

(10 citation statements)

References 35 publications

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“…In a very recent study, electroanatomic voltage mapping-guided EMB improved the 2010 ITF criteria diagnostic yield by upgrading one-third of the patients at risk to definite ACM with negligible complications. This study supports the notion that electroanatomic voltage mapping-guided EMB may still be a safe and useful tool for the diagnosis of ACM ( 71 ).…”

Section: Histopathological Features and Protein Markerssupporting

confidence: 86%

Histopathological Features and Protein Markers of Arrhythmogenic Cardiomyopathy

Bueno-Betí

Asimaki

2021

Front. Cardiovasc. Med.

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Arrhythmogenic cardiomyopathy (ACM) is a heritable heart muscle disease characterized by syncope, palpitations, ventricular arrhythmias and sudden cardiac death (SCD) especially in young individuals. It is estimated to affect 1:5,000 individuals in the general population, with >60% of patients bearing one or more mutations in genes coding for desmosomal proteins. Desmosomes are intercellular adhesion junctions, which in cardiac myocytes reside within the intercalated disks (IDs), the areas of mechanical and electrical cell-cell coupling. Histologically, ACM is characterized by fibrofatty replacement of cardiac myocytes predominantly in the right ventricular free wall though left ventricular and biventricular forms have also been described. The disease is characterized by age-related progression, vast phenotypic manifestation and incomplete penetrance, making proband diagnosis and risk stratification of family members particularly challenging. Key protein redistribution at the IDs may represent a specific diagnostic marker but its applicability is still limited by the need for a myocardial sample. Specific markers of ACM in surrogate tissues, such as the blood and the buccal epithelium, may represent a non-invasive, safe and inexpensive alternative for diagnosis and cascade screening. In this review, we shall cover the most relevant biomarkers so far reported and discuss their potential impact on the diagnosis, prognosis and management of ACM.

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Section: Histopathological Features and Protein Markerssupporting

confidence: 86%

Histopathological Features and Protein Markers of Arrhythmogenic Cardiomyopathy

Bueno-Betí

Asimaki

2021

Front. Cardiovasc. Med.

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“…However, considering that the sensitivity of EMB was low and the myocardium free wall of RV was thin, its application in ACM patients with HF is still controversial. From the recent study, the EMB is safe and helpful for further enhancing the diagnostic efficiency to the arrhythmogenic left ventricular cardiomyopathy, which posed a higher risk to HF stage progression [60]. More evidence will be needed to confirm the clinical value of EMB in the suspension ACM patients.…”

Section: Histopathological Characteristics and Endomyocardial Biopsymentioning

confidence: 98%

Heart Failure in Patients with Arrhythmogenic Cardiomyopathy

Chen

Duru

et al. 2021

JCM

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Arrhythmogenic cardiomyopathy (ACM) is a rare inherited cardiomyopathy characterized as fibro-fatty replacement, and a common cause for sudden cardiac death in young athletes. Development of heart failure (HF) has been an under-recognized complication of ACM for a long time. The current clinical management guidelines for HF in ACM progression have nowadays been updated. Thus, a comprehensive review for this great achievement in our understanding of HF in ACM is necessary. In this review, we aim to describe the research progress on epidemiology, clinical characteristics, risk stratification and therapeutics of HF in ACM.

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“… 6 , 7 Moreover, VM has been proved useful to increase the diagnostic yield of endomyocardial biopsies in RV cardiomyopathies. 8 …”

Section: Introductionmentioning

confidence: 99%

Unipolar voltage mapping in right ventricular cardiomyopathy: pitfalls, solutions and advantages

et al. 2023

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Aims Endocardial unipolar and bipolar voltage mapping (UVM/BVM) of the right ventricle (RV) are used for transmural substrate delineation. However, far-field electrograms (EGMs) and EGM changes due to injury current may influence automatically generated UVM. Epicardial BVM is considered less accurate due to the impact of fat thickness (FT). Data on epicardial UVM are sparse. The aim of the study is two-fold: to assess the influence of the manually corrected window-of-interest on UVM and the potential role of epicardial UVM in RV cardiomyopathies. Methods and results Consecutive patients who underwent endo-epicardial RV mapping with computed-tomography (CT) integration were included. Mapping points were superimposed on short-axis CT slices and correlated with local FT. All points were manually re-analysed and the window-of-interest was adjusted to correct for false high unipolar voltage (UV). For opposite endo-epicardial point-pairs, endo-epicardial bipolar voltage (BV) and UV were correlated for different FT categories. A total of 3791 point-pairs of 33 patients were analysed. In 69% of endocardial points and 63% of epicardial points, the window-of-interest needed to be adjusted due to the inclusion of far-field EGMs, injury current components, or RV-pacing artifacts. The Pearson correlation between corrected endo-epicardial BV and UV was lower for point-pairs with greater FT; however, this correlation was much stronger and less influenced by fat for UV. Conclusion At the majority of mapping sites, the window-of-interest needs to be manually adjusted for correct UVM. Unadjusted UVM underestimates low UV regions. Unipolar voltage seems to be less influenced by epicardial fat, suggesting a promising role for UVM in epicardial substrate delineation.

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Endomyocardial Biopsy: The Forgotten Piece in the Arrhythmogenic Cardiomyopathy Puzzle

Cited by 18 publications

References 35 publications

Histopathological Features and Protein Markers of Arrhythmogenic Cardiomyopathy

Histopathological Features and Protein Markers of Arrhythmogenic Cardiomyopathy

Heart Failure in Patients with Arrhythmogenic Cardiomyopathy

Unipolar voltage mapping in right ventricular cardiomyopathy: pitfalls, solutions and advantages

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