Cardiac magnetic resonance imaging findings in primary arrhythmogenic left ventricular cardiomyopathy with cardiocutaneous phenotype-Carvajal syndrome.
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ABSTRACT:
SUBMITTER: Akintoye E
PROVIDER: S-EPMC8134784 | biostudies-literature | 2021 May
REPOSITORIES: biostudies-literature
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Cardiac magnetic resonance imaging findings in primary arrhythmogenic left ventricular cardiomyopathy with cardiocutaneous phenotype-Carvajal syndrome.
Akintoye Emmanuel E Ashwath Mahi L ML
HeartRhythm case reports 20210210 5
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Project description:Background Left ventricular (LV) involvement is frequently observed in arrhythmogenic cardiomyopathy (ACM). We investigated the association of LV myocardial assessment using cardiac magnetic resonance (CMR) with clinical outcomes including heart failure (HF)-related events in ACM. Methods and Results We retrospectively analyzed 60 patients with ACM between 2005 and 2020 according to the 2010 Task Force Criteria and assessed HF-related events (HF hospitalization, heart transplantation, and cardiac death) and ventricular tachycardia events. We analyzed CMR findings including late gadolinium enhancement (LGE) in all subjects and obtained mapping values (native T1, extracellular volume, and T2) on 30 (50%) patients out of them. Among the study population (mean age 49 years, 77% male), 41 (68%) patients had LV LGE. During a median follow-up of 34 months, there were 13 (22%) HF-related events, and 20 (30%) ventricular tachycardia events. Kaplan-Meier survival analysis revealed that HF-related events occurred only in patients with LV LGE (+) (versus LV LGE (-), log-rank P=0.006), and the events were not significantly different regarding right ventricular LGE (log-rank P>0.999). When categorized by median value for each mapping parameter, HF-related events occurred more in patients with higher native T1 (versus lower native T1, log-rank P=0.002), and higher T2 (versus lower T2, log-rank P=0.002), higher extracellular volume (versus lower extracellular volume, log-rank P=0.002). However, regarding ventricular tachycardia events, there were no significant differences according to these CMR markers. Conclusions LV myocardial assessment using CMR with LGE imaging and native T1, T2, and extracellular volume markers were significantly associated with HF-related event risk in patients with ACM.
| S-EPMC9075293 | biostudies-literature
Project description:Isolated left ventricular apical hypoplasia (ILVAH) is an uncommon and likely congenital cardiac abnormality that has been described as relatively new. ILVAH is characterized by a truncated, globular-shaped left ventricle (LV) with bulging of the interventricular septum toward the right ventricle (RV), wrapping of an elongated and lengthened RV around the absent LV apex, thinning and fat replacement of apical myocardium of the LV, and abnormalities in the papillary muscle arrangement of the LV. In this report, we present the cardiac magnetic resonance imaging findings of a 22-year-old female patient with non-specific cardiac complaints that were compatible with ILVAH. Recognition of this rare cardiomyopathy is important for clinicians and radiologists in order to follow up on patients with ILVAH, as it may lead to severe complications, and to distinguish it from other cardiomyopathies.Learning objectiveIsolated left ventricular apical hypoplasia (ILVAH) is a rare congenital cardiomyopathy that has some serious complications, such as left-sided heart failure, severe pulmonary hypertension, and fatal arrhythmias. By recognizing and identifying the cardiac magnetic resonance imaging findings of ILVAH, clinicians and radiologists can take appropriate measures to manage and treat patients with this condition, potentially improving outcomes and reducing the risk of complications.
| S-EPMC10658309 | biostudies-literature
Project description:BackgroundCardiovascular magnetic resonance (CMR) is commonly used in patients with suspected arrhythmogenic right ventricular cardiomyopathy (ARVC) based on ECG, echocardiogram and Holter. However, various diseases may present with clinical characteristics resembling ARVC causing diagnostic dilemmas. The aim of this study was to explore the role of CMR in the differential diagnosis of patients with suspected ARVC.Methods657 CMR referrals suspicious for ARVC in a single tertiary referral centre were analysed. Standardized CMR imaging protocols for ARVC were performed. Potential ARVC mimics were grouped into: 1) displacement of the heart, 2) right ventricular overload, and 3) non ARVC-like cardiac scarring. For each, a judgment of clinical impact was made.ResultsTwenty patients (3.0%) fulfilled imaging ARVC criteria. Thirty (4.6%) had a potential ARVC mimic, of which 25 (3.8%) were considered clinically important: cardiac displacement (n=17), RV overload (n=7) and non-ARVC like myocardial scarring (n=4). One patient had two mimics; one patient had dual pathology with important mimic and ARVC. RV overload and scarring conditions were always thought clinically important whilst the importance of cardiac displacement depended on the degree of displacement from severe (partial absence of pericardium) to epiphenomenon (minor kyphoscoliosis).ConclusionsSome patients referred for CMR with suspected ARVC fulfil ARVC imaging criteria (3%) but more have otherwise unrecognised diseases (4.6%) mimicking potentially ARVC. Clinical assessment should reflect this, emphasising the assessment and/or exclusion of potential mimics in parallel with the detection of ARVC major and minor criteria.
| S-EPMC3599618 | biostudies-literature
Project description:Arrhythmogenic cardiomyopathy (ACM) is an inherited heart muscle disease characterized by loss of ventricular myocardium and fibrofatty replacement, which predisposes to scar-related ventricular arrhythmias and sudden cardiac death, particularly in the young and athletes. Although in its original description the disease was characterized by an exclusive or at least predominant right ventricle (RV) involvement, it has been demonstrated that the fibrofatty scar can also localize in the left ventricle (LV), with the LV lesion that can equalize or even overcome that of the RV. While the right-dominant form is typically associated with mutations in genes encoding for desmosomal proteins, other (non-desmosomal) mutations have been showed to cause the biventricular and left-dominant variants. This has led to a critical evaluation of the 2010 International Task Force criteria, which exclusively addressed the right phenotypic manifestations of ACM. An International Expert consensus document has been recently developed to provide upgraded criteria ("the Padua Criteria") for the diagnosis of the whole spectrum of ACM phenotypes, particularly left-dominant forms, highlighting the use of cardiac magnetic resonance. This review aims to offer an overview of the current knowledge on the genetic basis, the phenotypic expressions, and the diagnosis of left-sided variants, both biventricular and left-dominant, of ACM.
| S-EPMC8160676 | biostudies-literature
Project description:The aim of this study was to investigate left ventricular (LV) global myocardial strain and LV involvement characteristics in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and to evaluate their predictive value of adverse cardiac events. Sixty consecutive ARVD/C patients with a definite diagnosis of ARVD/C who underwent CMR examination and thirty-four healthy controls were enrolled retrospectively. The CMR images were analyzed for LV myocardial strain and the presence of LV involvement. The endpoint was defined as a composite of sustained ventricular tachycardia or fibrillation, cardiac death, resuscitated cardiac arrest, heart transplantation, and appropriate implantable cardioverter-defibrillator shock. LV global longitudinal (GLS), circumferential (GCS), and radial strain (GRS) were significantly impaired in ARVC/D patients compared to healthy controls (GLS: -13.89 ± 3.26% vs. -16.68 ± 2.74%, GCS: -15.65 ± 3.40% vs. -19.20 ± 2.23%, GRS: 34.57 ± 11.98% vs. 49.92 ± 12.59%; P < 0.001 for all). Even in ARVC/D patients with preserved LVEF, LV GLS, GCS and GRS were also significantly reduced than in controls. During a mean follow-up period of 4.10 ± 1.77 years, the endpoint was reached in 17 patients. LV GLS >-12.65% (HR, 3.58; 95%CI, 1.14 to 11.25; p = 0.029) and history of syncope (HR, 4.99; 95%CI, 1.88 to 13.24; p = 0.001) were the only independent predictors of cardiac outcomes. The LV myocardial deformation derived from FT CMR was significantly impaired in ARVD/C patients, and this alteration can occur before the impairment of LVEF. LV GLS >-12.65% and history of syncope were the only independent prognostic markers of adverse cardiac outcomes.
| S-EPMC6775112 | biostudies-literature
Project description:AimsPeripartum cardiomyopathy (PPCM) may result in a number of detrimental adverse cardiovascular events, notably persistent left ventricular ejection fraction (LVEF) reduction or even mortality. Imaging parameters on cardiac magnetic resonance (CMR) and their prognostic implications have rarely been perused in PPCM. We aimed to describe CMR's prognostic value in predicting poor left ventricular (LV) function recovery using late gadolinium enhancement (LGE) and T2-weighted or T2 mapping.Methods and resultsPubMed, Europe PMC, and ScienceDirect were screened for studies on late gadolinium enhancement (LGE) and myocardial oedema using CMR and PPCM. The outcome of interest was poor LV function recovery, with a follow-up period of at least 6 months. Comparisons between groups with the presence of LGE, myocardial oedema, and recovered against non-recovered patients were pooled. A random-effects model was employed to calculate the effect size. All pooled results were expressed as risk ratios (RRs) and 95% confidence intervals (CI). The area under the curve (AUC) was generated to test overall prognostic accuracy. Six cohort studies with 162 patients were included. The mean age of participants in this study was 30.6 years, and the majority of patients were diagnosed with PPCM after delivery. LGE was associated with a higher risk of poor LV function recovery, particularly when conducted at a later stage of disease (≥2.8 months) [RR = 2.83 (95% CI = 1.25-6.40); P = 0.001]. On the contrary, CMR conducted early (<2.8 months) exhibited a greater predictive value for myocardial oedema perceived by T2 mapping [RR = 3.44 (95% CI = 1.04-11.34); P = 0.043]. Diagnostic-test accuracy meta-analysis revealed that LGE had a sensitivity of 73% (95% CI, 56-85%), specificity of 79% (95% CI, 45-95%), and AUC of 0.78 (95% CI, 0.75-0.82) in predicting poor LV recovery when performed in the later phase, whereas significant myocardial oedema in those with non-recovered LV function had a sensitivity of 12% (95% CI, 2-52%), specificity of 68% (95% CI, 39-88%), and AUC of 0.40 (95% CI, 0.36-0.44) while undertaken in the latter phase. Our findings support the notion that inflammation plays a significant role in PPCM and that alterations to tissue composition occur in a time-dependent manner.ConclusionsContrast-enhanced CMR can be utilized as an adjunct examination in post-partum PPCM patients to stratify the risk of poor LV function recovery while conducted at a suitable point in time.
| S-EPMC11769666 | biostudies-literature
Project description:RationaleArrhythmogenic cardiomyopathy is caused primarily by mutations in genes encoding desmosome proteins. Ventricular arrhythmias are the cardinal and typically early manifestations, whereas myocardial fibroadiposis is the pathological hallmark. Homozygous DSP (desmoplakin) and JUP (junction protein plakoglobin) mutations are responsible for a subset of patients with arrhythmogenic cardiomyopathy who exhibit cardiac arrhythmias and dysfunction, palmoplanter keratosis, and hair abnormalities (cardiocutaneous syndromes).ObjectiveTo determine phenotypic consequences of deletion of Dsp in a subset of cells common to the heart and skin.Methods and resultsExpression of CSPG4 (chondroitin sulfate proteoglycan 4) was detected in epidermal keratinocytes and the cardiac conduction system. CSPG4pos cells constituted ≈5.6±3.3% of the nonmyocyte cells in the mouse heart. Inducible postnatal deletion of Dsp under the transcriptional control of the Cspg4 locus led to ventricular arrhythmias, atrial fibrillation, atrioventricular conduction defects, and death by 4 months of age. Cardiac arrhythmias occurred early and in the absence of cardiac dysfunction and excess cardiac fibroadipocytes, as in human arrhythmogenic cardiomyopathy. The mice exhibited palmoplantar keratosis and progressive alopecia, leading to alopecia totalis, associated with accelerated proliferation and impaired terminal differentiation of keratinocytes. The phenotype is similar to human cardiocutaneous syndromes caused by homozygous mutations in DSP.ConclusionsDeletion of Dsp under the transcriptional regulation of the CSPG4 locus led to lethal cardiac arrhythmias in the absence of cardiac dysfunction or fibroadiposis, palmoplantar keratosis, and alopecia, resembling the human cardiocutaneous syndromes. The findings offer a cellular basis for early cardiac arrhythmias in patients with arrhythmogenic cardiomyopathy and cardiocutaneous syndromes.
| S-EPMC5722680 | biostudies-literature
Project description:The aim of this study was to identify the incremental value and optimal role of cardiac magnetic resonance (CMR) imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)-associated desmosomal mutation carriers without histories of sustained ventricular arrhythmia.Risk stratification of ARVD/C mutation carriers is challenging.Sixty-nine patients (mean age 27.0 ± 15.3 years, 42% men) harboring ARVD/C-associated pathogenic mutations (83% plakophilin 2) without prior sustained ventricular arrhythmias were included. Electrocardiographic and 24-h Holter monitoring findings closest to presentation were analyzed for electrical abnormalities per revised task force criteria. CMR studies were done to identify abnormal cardiac structure and function according to the revised task force criteria.Overall, 42 patients (61%) presented with electrical abnormalities on the basis of electrocardiography and Holter monitoring, of whom 20 (48%) had abnormal results on CMR. Only 1 of 27 patients (4%) without electrical abnormalities at initial evaluation had abnormal CMR results. Over a mean follow-up period of 5.8 ± 4.4 years, 11 patients (16%) experienced sustained ventricular arrhythmias, exclusively in patients with both electrical abnormalities (electrocardiography and/or Holter monitoring) and abnormal CMR results.These results suggest that electrical abnormalities on electrocardiography and Holter monitoring precede detectable structural abnormalities in ARVD/C mutation carriers. Therefore, evaluation of cardiac structure and function using CMR is probably not necessary in the absence of baseline electrical abnormalities. Among ARVD/C mutation carriers, the presence of both electrical and CMR abnormalities identifies patients at high risk for events and thus patients who might benefit from prophylactic implantable cardioverter-defibrillator placement.
| S-EPMC3971056 | biostudies-literature
Project description:Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a familial cardiomyopathy characterized by fibrofatty replacement of the myocardium, ventricular tachycardia, and ventricular dysfunction that affects primarily the right ventricle (RV). This disease is not common but can be seen more frequently in young adults, and clinical manifestations range from no symptoms to lethal arrhythmia and sudden death. The diagnosis of ARVC is challenging and is based on the recently revised international task force criteria. Given the strengths of cardiac magnetic resonance (MR) imaging for depicting the RV, this modality plays an important role in the diagnosis of ARVC. Functional and structural abnormalities of the RV depicted with cardiac MR imaging constitute major and minor criteria in the revised task force criteria. Since the ARVC program was established at our center in 1998, there has been an increased awareness of a number of normal variants that are commonly misinterpreted as showing evidence for ARVC. On the basis of our clinical experience, the overdiagnosis of ARVC appears to reflect two fundamental problems: (a) a lack of awareness of diagnostic criteria that identify major and minor variables to be used for the diagnosis of ARVC, and (b) a lack of familiarity with the normal variants and mimics that may be misinterpreted as showing evidence of ARVC. The purpose of this article is to review the typical patterns of ventricular involvement in ARVC at cardiac MR imaging and to compare those with the patterns of normal variants and other diseases that can mimic ARVC. Online supplemental material is available for this article.
| S-EPMC5550031 | biostudies-literature
Project description:BackgroundLeft ventricular hypertrophy (LVH) typically manifests during or after adolescence in sarcomere mutation carriers at risk for developing hypertrophic cardiomyopathy. Guidelines recommend serial imaging of mutation carriers without LVH (G+/LVH-) to monitor for phenotypic evolution, but the optimal strategy is undefined. Compared with echocardiography (echo), cardiac MRI (CMR) offers improved endocardial visualization and potential to assess scar. However, the incremental advantage offered by CMR for early diagnosis of hypertrophic cardiomyopathy is unclear. Therefore, we systematically compared echo and CMR in G+/LVH- subjects.Methods and resultsA total of 40 sarcomere mutation carriers with normal echo wall thickness (<12 mm or z score <2.5 in children) underwent concurrent CMR. Mean age was 21.7±11.1 years, 55% were female. If left ventricular wall thickness seemed nonuniform, the size and location of relatively thickened segments were noted. Late gadolinium enhancement was assessed with CMR. Diagnostic agreement between echo and CMR was good (90%), although CMR measurements of left ventricular wall thickness were ≈19% lower than echo. Four subjects had mild hypertrophy (12.6-14 mm; ≤2 segments) appreciated by CMR but not echo. No subjects had late gadolinium enhancement. During median 35-month follow-up, 2 subjects developed overt hypertrophic cardiomyopathy, including 1 with mild LVH by CMR at baseline.ConclusionsEcho is unlikely to miss substantial LVH; however, CMR identified mild hypertrophy in ≈10% of mutation carriers with normal echo wall thickness. CMR may be a useful adjunct in hypertrophic cardiomyopathy family screening, particularly in higher risk situations, or if echocardiographic images are suboptimal or suggest borderline LVH.
| S-EPMC3974911 | biostudies-literature