Imaging the “Hot Phase” of a Familiar Left-Dominant Arrhythmogenic Cardiomyopathy

Rubino, Marta; Scatteia, Alessandra; Frisso, Giulia; Pacileo, Giuseppe; Caiazza, Martina; Pascale, Carmine Emanuele; Guarini, Pasquale; Limongelli, Giuseppe; Dellegrottaglie, Santo

doi:10.3390/genes12121933

Cited by 10 publications

(22 citation statements)

References 20 publications

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“…The full-text screening of these articles led to the exclusion of 56 studies due to their compliance with the inclusion/ exclusion criteria. The remaining 31 articles were considered eligible for this review [ 10 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 ] A PRISMA flow diagram depicts the flow of information through the different literature review phases ( Figure 1 ). Our inclusion criteria, with regard to the presence of detailed patients’ clinical features, led to the exclusion of several publications reporting a significant number of subjects.…”

Section: Resultsmentioning

confidence: 99%

Genetic Background and Clinical Features in Arrhythmogenic Left Ventricular Cardiomyopathy: A Systematic Review

Bariani

Rigato

Cason

et al. 2022

JCM

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In recent years a phenotypic variant of Arrhythmogenic cardiomyopathy has been described, characterized by predominant left ventricular (LV) involvement with no or minor right ventricular abnormalities, referred to as Arrhythmogenic left ventricular cardiomyopathy (ALVC). Different disease-genes have been identified in this form, such as Desmoplakin (DSP), Filamin C (FLNC), Phospholamban (PLN) and Desmin (DES). The main purpose of this critical systematic review was to assess the level of knowledge on genetic background and clinical features of ALVC. A search (updated to April 2022) was run in the PubMed, Scopus, and Web of Science electronic databases. The search terms used were “arrhythmogenic left ventricular cardiomyopathy” OR “arrhythmogenic cardiomyopathy” and “gene” OR “arrhythmogenic dysplasia” and “gene”. The most represented disease-gene turned out to be DSP, accounting for half of published cases, followed by FLNC. Overall, ECG abnormalities were reported in 58% of patients. Major ventricular arrhythmias were recorded in 26% of cases; an ICD was implanted in 29% of patients. A total of 6% of patients showed heart failure symptoms, and 15% had myocarditis-like episodes. DSP is confirmed to be the most represented disease-gene in ALVC patients. An analysis of reported clinical features of ALVC patients show an important degree of electrical instability, which frequently required an ICD implant. Moreover, myocarditis-like episodes are common.

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Section: Resultsmentioning

confidence: 99%

Genetic Background and Clinical Features in Arrhythmogenic Left Ventricular Cardiomyopathy: A Systematic Review

Bariani

Rigato

Cason

et al. 2022

JCM

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“…Native T1 mapping and extra-cellular volume (ECV) quantification are CMR sequences able to detect an increase in the interstitial space. It has been observed that native T1 values are higher in genotype-positive ACM patients than in the controls, probably related to the LV fibrosis observed in these individuals [ 23 ].…”

Section: Cardiac Magnetic Resonancementioning

confidence: 99%

“…Furthermore, it has been postulated that the timing of an EMB could be crucial for the detection of inflammatory infiltrates, which typically may alternate the “hot phases” of active inflammation and remission [ 23 ]. Therefore, an 18-FDG PET may unveil myocardial inflammation in cases being undetected in CMR scans, particularly when the concomitant troponin elevation is identified or in the case of chest pains.…”

Section: Cardiac Nuclear Imagingmentioning

confidence: 99%

“…Inflammatory heart diseases, such as myocarditis, cardiac sarcoidosis, and other immune-mediated diseases, may occasionally represent a phenocopy of ACM, resulting in misdiagnosis. Inflammation may represent the pre-phenotypic/early stage of ACM in a subgroup of patients during the “warm phase”, which is characterized by acute chest pains and/or the release of myocardial enzymes [ 23 ].…”

Section: Cardiac Nuclear Imagingmentioning

confidence: 99%

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Multimodality Imaging in Arrhythmogenic Left Ventricular Cardiomyopathy

Monda

Rubino

Palmiero

et al. 2023

JCM

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The term arrhythmogenic cardiomyopathy (ACM) describes a large spectrum of myocardial diseases characterized by progressive fibrotic or fibrofatty replacement, which gives the substrate for the occurrence of ventricular tachyarrhythmias and the development of ventricular dysfunction. This condition may exclusively affect the left ventricle, leading to the introduction of the term arrhythmogenic left ventricular cardiomyopathy (ALVC). The clinical features of ALVC are progressive fibrotic replacement with the absence or mild dilation of the LV and the occurrence of ventricular arrhythmias within the left ventricle. In 2019, the diagnostic criteria for the diagnosis of ALVC, based on family history and clinical, electrocardiographic, and imaging features, have been proposed. However, since the significant clinical and imaging overlap with other cardiac diseases, genetic testing with the demonstration of a pathogenic variant in an ACM-related gene is required for diagnostic confirmation. In ALVC, the multimodality imaging approach comprises different imaging techniques, such as echocardiography, cardiac magnetic resonance, and cardiac nuclear imaging. It provides essential information for the diagnosis, differential diagnosis, sudden cardiac death risk stratification, and management purposes. This review aims to elucidate the current role of the different multimodality imaging techniques in patients with ALVC.

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“…In addition to the cutaneous features, patients have been reported to have episodes of myocardial inflammation, sometimes provoked by exercise ( 18 , 19 ). These inflammatory episodes might be confused with myocarditis of other etiologies, which might delay diagnosis ( 20 , 21 ). Cardiac magnetic resonance imaging (CMR) may help in differential diagnosis ( 22 ).…”

Section: Introductionmentioning

confidence: 99%

DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma

Heliö

Brandt

Vaara

et al. 2023

Front. Cardiovasc. Med.

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BackgroundPathogenic variants in DSP associate with cardiac and cutaneous manifestations including arrhythmogenic right ventricular cardiomyopathy, dilated cardiomyopathy, curly or wavy hair, and palmoplantar keratoderma (PPK). Episodes of myocardial inflammation associated with DSP cardiomyopathy might be confused in clinical work with myocarditis of other etiologies such as viral. Cardiac magnetic resonance imaging (CMR) may help in differential diagnosis.Methods and resultsThis study comprised 49 Finnish patients: 34 participants from families with suspected DSP cardiomyopathy (9 index patients and 25 family members) and 15 patients with myocarditis. All 34 participants underwent genetic testing and cardiac evaluation, and 29 of them also underwent CMR. Participants with the DSP variant, numbering 22, were dermatologically examined. The 15 patients with myocarditis underwent CMR and were evaluated during their hospitalization.A heterozygous truncating DSP c.6310delA p.(Thr2104Glnfs*12) variant was confirmed in 29 participants. Only participants with the DSP variant had pacemakers and life-threatening ventricular arrhythmias. Of the participants with the DSP variant, 24% fulfilled cardiomyopathy criteria, and the median age at diagnosis was 53. Upon CMR, myocardial edema was found to be more common in patients with myocarditis. Both groups had a substantial percentage of late gadolinium enhancement (LGE). A ring-like LGE and increased trabeculation were observed only in participants with the DSP variant. All the studied participants with the DSP variant had PPK and curly or wavy hair. Hyperkeratosis developed before the age of 20 in most patients.ConclusionsThe DSP c.6310delA p.(Thr2104Glnfs*12) variant associates with curly hair, PPK, and arrhythmogenic cardiomyopathy with increased trabeculation. Cutaneous symptoms developing in childhood and adolescence might help recognize these patients at an earlier stage. CMR, together with dermatologic characteristics, may help in diagnosis.

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Imaging the “Hot Phase” of a Familiar Left-Dominant Arrhythmogenic Cardiomyopathy

Cited by 10 publications

References 20 publications

Genetic Background and Clinical Features in Arrhythmogenic Left Ventricular Cardiomyopathy: A Systematic Review

Genetic Background and Clinical Features in Arrhythmogenic Left Ventricular Cardiomyopathy: A Systematic Review

Multimodality Imaging in Arrhythmogenic Left Ventricular Cardiomyopathy

DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma

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