High prevalence of malignant ventricular arrhythmias in patients with early-stage left ventricular noncompaction
F SivilottiAndrea VillatoreJ BergS C RomanoAntonio ParcianteGianluca PiliF FioravantiB El SawafS SalaP Della BellaG Peretto
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Abstract Background Early-stage left ventricular non compaction (LVNC) is a nonischemic cardiomyopathy characterized with nondilated phenotype and unpredictable risk of malignant ventricular arrhythmias (MVA). Purpose To report the occurrence of MVA in patients with early-stage LVNC. Methods Consecutive patients (n=63) diagnosed with LVNC according to recognized criteria either on transthoracic echocardiogram or cardiac magnetic resonance were retrospectively enrolled. Patients with late-stage LVNC, defined by a coexistent dilated cardiomyopathy phenotype, were excluded (n=49). Patient-tailored medical treatment, as well as ICD implantation strategies, were based on the updated ESC guidelines integrated by the experience of a referral center for arrhythmia management. The study endpoint was the occurrence of MVA (defined as sustained VT, VF, or appropriate ICD therapy) by 5-year follow-up. Results The study cohort consisted of 14 patients (mean age 37±17 y, 64% males), presenting with palpitation (n=4), syncope (n=4), or dyspnea on effort (n=6). LVNC was diagnosed by echocardiogram and cardiac magnetic resonance in 13 and 1 patients, respectively. Because of nonmalignant VA, seven patients (50%) underwent ICD implant before discharge. By 5-year follow-up, 5 patients (36%) experienced MVA, including VF or appropriate ICD shocks for fast VT. Left ventricular ejection fraction (LVEF) ≥45% was the only factor associated with the occurrence of MVA (5/11 event in cases with LVEF ≥45% vs. 0/3 events in controls with LVEF <45%; p=0.145). Baseline features, including age, gender, NC/C ratio, and clinical presentation were comparable between cases with LVEF ≥45% and controls, all p>0.05. Drug treatment, including RAAS inhibitors, betablockers and antiarrhythmics was also comparable. Conclusions Our preliminary data show that in early-stage LVNC the occurrence of MVA is higher for patients with LVEF ≥45%. Efforts are needed to identify earlier predictors of arrhythmic risk, to improve patient selection for ICD implant. Funding Acknowledgement Type of funding sources: None.Keywords:
Transthoracic echocardiogram
Left ventricular noncompaction
Abstract BACKGROUND Left ventricular noncompaction (LVNC) has a wide phenotypic expression. Prognosis of patients with preserved ejection fraction (pEF) remains uncertain. PURPOSE To describe the characteristics and natural history of this subgroup of patients. METHODS LVNC patients were included in a multicentric registry. Those with pEF (LVEF > 50%) were considered for the analysis. RESULTS 491 LVNC pts from 10 Spanish centres were recruited from 2000 to 2018. 239 (49%) had baseline pEF. Compared to those with reduced EF (rEF), they were younger, with no differences in gender and had less comorbilities (Table 1). Mean LVEF was 62% (SD 8). 18 pts (9% of the available CMR) had fibrosis even though LV volumes and LVEF were normal. Family screening was completed in 199 pts, being positive in 113 (57%). Genetic testing was performed in 146 index cases, being positive in 80 (55%): ACTC1 (40), MYH7 (17), TTN (8), HCN4 (6) and other individual variants. During a median follow-up of 4.9 years (IQR 2.1-7.3), there was a significant decrease in LVEF: last LVEF was 30- 40% in 5 pts (2%) and 40-50% in 21 (9%) (p = 0.01 compared to baseline LVEF). 6 pts (2.5%) died during follow-up, only 1 of cardiovascular cause. 9 patients (4%) presented heart failure (HF) and 25 (10.5%) ventricular tachycardia or fibrillation (VT/VF). All cardiovascular outcomes were less frequent compared to rEF (Image 1, all p < 0.05). In multivariate analysis (including demographic, imaging, genetic and family aggregation parameters) the only predictor for HF was change in LVEF (OR 0.89, mean LVEF at the event 47%, p = 0.01 compared to no HF). Fibrosis was not associated with VT/VF. CONCLUSIONS Patients with LVNC and pEF have an overall excellent prognosis, which is markedly better than those with rEF. However, there is progressive decrease in LVEF, associated with heart failure, and moderate risk of life threatening arrhythmias. Therefore, periodic follow-up should be promoted. Table 1 LVNC pEF (n = 239) LVNC rEF (n = 252) p Men, n (%) 131 (55) 146 (58) 0.65 Median age at diagnosis (IQR) - yr 38 (23-54) 58 (42-72) 0.01 Median follow up (IQR) - yr 4.9 (2.1-7.3) 3.9 (1.4-7.9) 0.04 QRS (SD) - ms 93 (18) 117 (32) 0.01 LGE, n (%) 18 (9) 52 (30) 0.01 Abstract P1442 Figure. Image 1
Left ventricular noncompaction
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Left ventricular non-compaction (LVNC) cardiomyopathy is an uncommon unclassified or genetic myocardial disorder. Frequent premature ventricular complexes (PVCs) as unique finding in LVNC cardiomyopathy are rare. We report a case of a 36-year-old woman in whom isolated LVNC was diagnosed due to an incidental finding of PVCs in pre-operative consultation.
Left ventricular noncompaction
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Background— Left ventricular noncompaction (LVNC) can occur in isolation or can co-occur with a cardiomyopathy phenotype or cardiovascular malformation. The yield of cardiomyopathy gene panel testing in infants, children, and adolescents with a diagnosis of LVNC is unknown. By characterizing a pediatric population with LVNC, we sought to determine the yield of cardiomyopathy gene panel testing, distinguish the yield of testing for LVNC with or without co-occurring cardiac findings, and define additional factors influencing genetic testing yield. Methods and Results— One hundred twenty-eight individuals diagnosed with LVNC at ≤21 years of age were identified, including 59% with idiopathic etiology, 32% with familial disease, and 9% with a syndromic or metabolic diagnosis. Overall, 75 individuals had either cardiomyopathy gene panel (n=65) or known variant testing (n=10). The yield of cardiomyopathy gene panel testing was 9%. The severity of LVNC by imaging criteria was not associated with positive genetic testing, co-occurring cardiac features, etiology, family history, or myocardial dysfunction. Individuals with isolated LVNC were significantly less likely to have a positive genetic testing result compared with those with LVNC and co-occurring cardiomyopathy (0% versus 12%, respectively; P <0.01). Conclusions— Genetic testing should be considered in individuals with cardiomyopathy co-occurring with LVNC. These data do not suggest an indication for cardiomyopathy gene panel testing in individuals with isolated LVNC in the absence of a family history of cardiomyopathy.
Left ventricular noncompaction
Etiology
Dilated Cardiomyopathy
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Objective: To compare the left ventricular ejection fraction on echocardiograph, cardiac magnetic resonance imaging and single-photon emission computed tomography scan in heart failure patients.
Study Design: This was a prospective cross-sectional study.
Place and Duration of Study: Tertiary Cardiac Care Center of Rawalpindi, Pakistan, from Nov 2021 to Apr 2022.
Methodology: This was a prospective cross-sectional study conducted from November 2021 to April 2022 at a tertiary cardiac care center of Rawalpindi. Thirty (n=30) heart failure patients of either gender with reduced ejection fraction were selected by consecutive sampling technique and were analyzed to quantify their left ventricular ejection fraction (LVEF) using Echo, CMR and SPECT scan. All three modalities were used to measure LVEF in these patients and were compared accordingly.
Results: The LVEF measured by Cardiac Magnetic Resonance Imaging, Single Photon Emission Computed Tomography Scan and Echocardiography was in the range of 15% to 67%. The mean LVEF was 37.2±14.2 by CMR, 37.17±14.1 by SPECT and 38±12.3 by Echo. The mean LVEF determined by SPECT was slightly lower while that determined by Echocardiography was slightly higher. The measured p-value of LVEF by the three modalities, however, indicated statistically difference (p-value <0.05).
Conclusion: Although the literature shows diversity in results of these modalities, CMR is considered the standard reference for assessment of LVEF when interpreted by an expert observer. We in our study found that all three modalities are complimentary to each other and can be used interchangeably depending upon the availability of the equipment and reporting expertise of the observers.
Cardiac magnetic resonance
Emission computed tomography
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Abstract Left ventricular non-compaction (LVNC) describes a ventricular wall anatomy, characterized by prominent left ventricular trabeculae, a thin compacted layer, and deep intertrabecular recesses. Individual variability is extreme. The trabecular configuration represents a type of individual dynamic 'cardioprinting'. On its own, the diagnosis of LVNC does not coincide with that of a 'cardiomyopathy' because it can be observed in healthy subjects with normal left ventricular size and function, and it can be acquired and reversible. Rarely, LVNC is intrinsically part of a cardiomyopathy: the paradigmatic examples are infantile tafazzinopathies. The prevalence of LVNC in healthy athletes, its possible reversibility, and increasing diagnosis in healthy subjects suggest cautious use of the term LVNC cardiomyopathy, which describes the morphology, but not the functional profile of the cardiomyopathy or the associated congenital disease. Therefore, when associated with left ventricular dilation and dysfunction, hypertrophy, or congenital heart disease, the leading diagnosis is cardiomyopathy or congenital heart disease followed by the addition of the descriptor LVNC.
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Cardiac magnetic resonance
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Two patients with the fascinating disorder of left ventricular noncompaction cardiomyopathy are reported and illustrated echocardiographically. A review of this increasingly recognized cardiomyopathy that may be accompanied by considerable morbidity and mortality, has been done.
Left ventricular noncompaction
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Background Left ventricular noncompaction ( LVNC ) is a rare disorder characterized by increased left ventricular trabeculation, deep intertrabecular recesses, and a thin compacted myocardial layer with associated clinical sequelae. Cardiac imaging with echocardiogram and cardiac magnetic resonance ( CMRI ) can detect variable myocardial morphology including excessive trabeculations. Multiple CMRI and echocardiographic criteria have been offered that attempt to identify LVNC morphology. The aim of this study was to assess the utility of echocardiogram in identifying LVNC in a cohort of patients with LVNC detected on CMRI . Hypothesis Echocardiography fails to identify LVNC morphology in a large proportion of patients with LVNC /hypertrabeculation detected on CMRI . Methods There were 1060 CMRI studies collected from 2009 to 2015 at 2 institutions. The patients included in this study (n = 37) met the criteria for LVNC on CMRI and had complete CMRI and echocardiogram images Clinical and imaging data were retrospectively reviewed. Results Of the 37 patients with LVNC on CMRI , only 10 patients (27%) had LVNC identified on echocardiogram ( P < 0.0001, 95% confidence interval: 25.7%‐66.2%). Echocardiography and CMRI were also significantly different in terms of identification of distribution of LVNC . Although 21 of 37 patients (57%) had evidence of LVNC in either the anterior or lateral walls on CMRI , there were 0 patients with LVNC detected in the anterior or lateral walls on echocardiogram ( P = 0.019). Conclusions Echocardiogram fails to detect LVNC morphology/hypertrabeculation in a significant number of a cohort of patients with LVNC on CMRI . LVNC may be missed if echocardiogram is the only imaging modality performed in a cardiac evaluation.
Left ventricular noncompaction
Transthoracic echocardiogram
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Paediatric cardiomyopathy is a progressive, often lethal disorder and the most common cause of heart failure in children. Despite its severe outcomes, the genetic aetiology is still poorly characterised. High-throughput sequencing offers a great opportunity for a better understanding of the genetic causes of cardiomyopathy.The current study aimed to elucidate the genetic background of cardiomyopathy in Egyptian children.This hospital-based study involved 68 patients; 58 idiopathic primary dilated cardiomyopathy and 10 left ventricular noncompaction cardiomyopathy. Cardiomyopathy-associated genes were investigated using targeted next-generation sequencing.Consanguinity was positive in 53 and 70% of dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy patients, respectively. Positive family history of cardiomyopathy was present in 28% of dilated cardiomyopathy and 10% of the left ventricular noncompaction cardiomyopathy patients. In 25 patients, 29 rare variants were detected; 2 likely pathogenic variants in TNNI3 and TTN and 27 variants of uncertain significance explaining 2.9% of patients.The low genetic detection rate suggests that novel genes or variants might underlie paediatric cardiomyopathy in Egypt, especially with the high burden of consanguinity. Being the first national and regional report, our study could be a reference for future genetic testing in Egyptian cardiomyopathy children. Genome-wide tests (whole exome/genome sequencing) might be more suitable than the targeted sequencing to investigate the primary cardiomyopathy patients. Molecular characterisation of cardiomyopathies in different ethnicities will allow for global comparative studies that could result in understanding the pathophysiology and heterogeneity of cardiomyopathies.
Left ventricular noncompaction
Dilated Cardiomyopathy
Restrictive cardiomyopathy
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Abstract Left ventricular non‐compaction (LVNC) cardiomyopathy is an uncommon unclassified or genetic myocardial disorder. Frequent premature ventricular complexes (PVCs) as unique finding in LVNC cardiomyopathy are rare. We report a case of a 36‐year‐old woman in whom isolated LVNC was diagnosed due to an incidental finding of PVCs in pre‐operative consultation.
Left ventricular noncompaction
Genetic disorder
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