Importance of cardiac magnetic resonance findings in the diagnosis of left dominant arrythmogenic cardiomyopathy

Background Desmosomes are specialized intercellular adhesive junctions of cardiac and epithelial cells that provide intercellular mechanical coupling through glycoproteins, one of which is desmoglein (DSG). DSG-2 mutations are frequently associated with biventricular arrhythmogenic cardiomyopathy (ACM). We report a case of left-dominant ACM in a patient who initially was misclassified as dilated cardiomyopathy (DCM). Case summary A 28-year-old-woman was found to have a moderately reduced left ventricular (LV) systolic function and frequent premature ventricular contractions (PVCs). Targeted genetic testing revealed a heterozygous likely pathogenic variant associated with ACM in exon 15 of the DSG-2 gene (c.3059_3062del; p.Glu1020Alafs*18). Subsequent cardiac magnetic resonance (CMR) imaging showed epicardial and mid-myocardial fatty infiltration involving multiple LV wall segments, multiple areas of mid-myocardial fibrosis/scar, regional dyskinesis involving both ventricles, and an overall reduced left ventricular ejection fraction. The patient’s right ventricular (RV) cavity size and overall RV systolic function were normal. Based on the patient’s frequent PVCs, family history, fibrofatty myocardial replacement in multiple LV segments, and dyskinetic motion of multiple ventricular wall segments (predominantly affecting the LV), the patient was diagnosed with left-dominant ACM. Discussion Identifying a likely pathogenic mutation associated with ACM in a patient with ventricular arrhythmias and a family history of sudden cardiac death increased the possibility of ACM. Subsequent CMR imaging confirmed the diagnosis of left-dominant ACM by demonstrating regional biventricular dyskinesia and a characteristic pattern of fibrofatty myocardial replacement. Our case highlights the importance of targeted genetic testing and advanced cardiac imaging in distinguishing left-dominant ACM from DCM.

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“…These characteristic CMR findings were frequently found in a recent series of patients with left-dominant ACM. 15 …”

Section: Discussionmentioning

confidence: 99%

Left-dominant arrhythmogenic cardiomyopathy: an association with desmoglein-2 gene mutation—a case report

Lao

Laiq

Courson

et al. 2021

European Heart Journal - Case Reports

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“…An important and common CMR finding in ALVC patients, which was observed in this case, is the focal epicardial contour irregularities observed in 2-, 3-, and 4-chamber cine images. Feliu and colleagues 3 described this pattern as “the rat-bite sign,” given its resemblance to a piece of cheese bitten by rats, with a special mention of mid-wall and/or subepicardial pattern of late gadolinium enhancement (91.9%), fatty epicardial infiltration (83.8%), and LV segmental contractility abnormalities (47.9%). At a mean follow-up of 3.74 years, approximately one-third of patients had a major adverse cardiovascular event.…”

Section: Discussionmentioning

confidence: 99%

“…In the film sequences, marked irregularities were observed in the epicardial contour, mainly on the lateral and inferior LV surfaces, suggesting subepicardial fatty infiltration ( Figure 3 ). This finding has been recently described in patients with arrhythmogenic left ventricular cardiomyopathy (ALVC), termed the “rat-bite sign.” 3 In the late gadolinium enhancement study, meso-subepicardial enhancement compatible with fibrosis was observed in the inferior and lateral aspects of the LV ( Supplemental Figure S2 ). Thus, the patient’s CMR findings were highly suggestive of ALVC.…”

Section: Case Reportmentioning

confidence: 94%

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Critical role of cardiac magnetic resonance in the diagnosis of left-dominant arrhythmogenic cardiomyopathy: A paradigmatic case in a recreational middle-aged athlete

Guía-Galipienso

Feliu-Rey

Raso-Raso

et al. 2021

HeartRhythm Case Reports

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“…An under-recognized form of AC that predominantly presents with left ventricle (LV) involvement is frequently misdiagnosed with other cardiomyopathies with an enlarged LV and symptoms of heart failure. Late gadolinium enhancement (LGE) acquired by cardiovascular magnetic resonance (CMR) imaging can detect myocardial fibrosis and provide useful information for differential diagnosis, especially in cases with similar imaging manifestations such as dilated cardiomyopathy (DCM) [1,2].…”

Section: Introductionmentioning

confidence: 99%

Left-Dominant Arrhythmogenic Cardiomyopathy: A Rare and Frequently Misdiagnosed Cardiomyopathy Associated with Heart Failure

Wang

Zhao

2020

Cardiovasc Imaging Asia

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A 35-year-old male with 7-year history of exertional dyspnea and abdominal distention had frequent premature ventricular contractions detected by Holter monitoring. Cardiovascular magnetic resonance (CMR) imaging demonstrated a significantly dilated left ventricle (LV) with severely reduced global systolic function. Coronary arterial stenosis was excluded with CT coronary angiography. However, transmural late gadolinium enhancement was detected by CMR in the lateral wall of the LV. The patient received cardiac transplantation. The diagnosis of left dominant arrhythmogenic right ventricular cardiomyopathy was made.

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Importance of cardiac magnetic resonance findings in the diagnosis of left dominant arrythmogenic cardiomyopathy

Cited by 9 publications

References 22 publications

Left-dominant arrhythmogenic cardiomyopathy: an association with desmoglein-2 gene mutation—a case report

Left-dominant arrhythmogenic cardiomyopathy: an association with desmoglein-2 gene mutation—a case report

Critical role of cardiac magnetic resonance in the diagnosis of left-dominant arrhythmogenic cardiomyopathy: A paradigmatic case in a recreational middle-aged athlete

Left-Dominant Arrhythmogenic Cardiomyopathy: A Rare and Frequently Misdiagnosed Cardiomyopathy Associated with Heart Failure

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