Diagnosis Of Left Ventricular Noncompaction Research Articles

Left ventricular function assessment including or excluding trabeculations in left ventricular non-compaction, a preliminary case-control cardiac magnetic resonance study.

Functional assessment of compact myocardium and hypertrabeculations in left ventricular non-compaction (LVNC) is underestimated with regards to the morphological spectrum of disease. We aimed to assess whether measuring concurrently left ventricular (LV) volume, mass and ejection fraction (LVEF) with and without trabeculation inclusion on cine magnetic resonance (cineMR) could help diagnose patients with LVNC by comparison to normal individuals with an excess of myocardial trabeculations. This retrospective single center magnetic resonance imaging study (Bichat University Hospital) of 67 consecutive patients with echocardiographic hypertrabeculations seen at echocardiography between March 2011 and October 2018 included 30 patients with known LVNC and 16 control subjects with simple hypertrabeculations (non-compact/compact (NC/C) ratio between 1.8 and 2.2, trabeculations involving 10% to 17% of the left ventricle) using steady-state free precession (SSFP) cine sequences in the standard views. LV volumes, mass and LVEF were measured with and without trabeculation inclusion using CVI42 software. Follow-up was studied in 20 patients and 14 controls. Functional parameters were compared using Student's paired t-test. Pearson product moment correlation coefficients were calculated. Bland-Altman analysis determined the inter- and intra-reader functional data reproducibility. When excluding the trabeculations (i.e. non-compacted myocardium) from measurements, LVEF was within normal ranges both in patients and controls, while it increased by 9.8%±1.6% in LVNC and decreased by 10.9%±1.4% in controls when trabeculae were included in the endocardial contours (P<0.0001). The overall myocardial mass remained stable according to the diastolic or systolic phase in LVNC whereas it significantly decreased in controls. Depending whether trabeculations were included or not, LVEF measurements were significantly different between patients with LVNC and controls. These distinctive measurements might be used as an adjunctive clinical tool to help confirm the diagnosis of LVNC.

Impact of Cardiac Magnetic Resonance on the Diagnosis of Left Ventricular Noncompaction-A 15-Year Experience.

The aim of this study was to assess the impact of cardiac magnetic resonance (CMR) on the diagnosis in patients with known or suspected left ventricular noncompaction (LVNC). We retrospectively reviewed the medical charts of 12,811 consecutive patients who had CMR studies between 2008 and 2022 in a large tertiary center. We included patients referred for CMR because of known or suspected LVNC. The study sample consisted of 333 patients, 193 (58.0%) male, median age 39.0 (26.8-51.0) years. Among 74 patients fulfilling the echocardiographic LVNC criteria, the diagnosis was confirmed in 54 (73.0%) cases. In 259 patients with ultrasound-based suspicion of LVNC, CMR led to an LVNC diagnosis in 82 (31.7%) patients. In both groups, CMR led to a new diagnosis in 89 cases (10 (13.5%) and 79 (30.5%)). A quantity of 38 (5.4%) patients were diagnosed with dilated cardiomyopathy, 11 (1.4%) patients were diagnosed with hypertrophic cardiomyopathy, and 21 (4.1%) patients were diagnosed with unclassified cardiomyopathy. In four patients with suspected LVNC, a myocardial trabeculation was a secondary result of dilatation due to coronary heart disease. In five cases, valvular heart disease was found. Four patients were diagnosed with athlete's heart. Other diagnoses (arrhythmogenic right ventricular cardiomyopathy, peripartum cardiomyopathy, hypokinetic non-dilated cardiomyopathy, sarcoidosis, amyloidosis, and ventricular septum defect) were found in six patients. CMR is a valuable tool in the evaluation of cardiac muscle and in differentiating LVNC and other cardiac diseases.

Difficulties in selecting antiarrhythmic therapy in a patient with left ventricular noncompaction and atrial septal defect: a case report

Introduction. Left ventricular noncompaction (LVNC) is a rare heterogeneous pathology characterized by a two-layered structure with a predominance of non-compact layer in the form of multiple trabeculations and pockets between them, communicating with the left ventricular cavity. One of the rare LVNC phenotypes is a combination with congenital heart defects, including atrial septal defect (ASD).Brief description. The article presents a case report describing the difficulties of selecting antiarrhythmic therapy in a patient with LVNC and ASD, complicated by arrhythmias due to heart failure. The diagnosis of LVNC was confirmed by the Petersen criterion using magnetic resonance imaging.Discussion. Cardiac arrhythmias in patients with LVNC and congenital heart defects, as a result of both anatomical and hemodynamic causes of electrical heart instability, constitute a danger of thromboembolism and sudden cardiac death, and also contribute to heart failure progression. The case is of interest due to the rare combination of LVNC and ASD, complicated by frequent episodes atrial fibrillation and premature ventricular contractions in the form of parasystoles, as well as difficulties in selecting antiarrhythmic therapy. Pulmonary vein cryoballoon ablation eliminated the source of atrial fibrillation. Ventricular ectopic activity was stopped using the anticonvulsant drug carbamazepine.

Left Ventricular Non-Compaction in Children: Aetiology and Diagnostic Criteria.

Left ventricular non-compaction (LVNC) is a heterogeneous myocardial disorder characterized by prominent trabeculae protruding into the left ventricular lumen and deep intertrabecular recesses. LVNC can manifest in isolation or alongside other heart muscle diseases. Its occurrence among children is rising due to advancements in imaging techniques. The origins of LVNC are diverse, involving both genetic and acquired forms. The clinical manifestation varies greatly, with some cases presenting no symptoms, while others typically manifesting with heart failure, systemic embolism, and arrhythmias. Diagnosis mainly relies on assessing heart structure using imaging tools like echocardiography and cardiac magnetic resonance. However, the absence of a universally agreed-upon standard and limitations in diagnostic criteria have led to ongoing debates in the scientific community regarding the most reliable methods. Further research is crucial to enhance the diagnosis of LVNC, particularly in early life stages.

Left Ventricular Noncompaction and Coronary Artery Disease: An Unexpected Combination

A 51-year-old man without cardiac risk factors was referred to the hospital after a complete left bundle block was discovered on an electrocardiogram; he had a 6-month history of fatigue and mild exertional dyspnea. Transthoracic echocardiogram showed a spongiform appearance of the left ventricle, with prominent hypertrabeculations in lateral and apical walls (Fig. 1A and B). The left ventricle was dilated and hypokinetic (diastolic diameter, 70 mm; ejection fraction, 25%).Severe stenosis (90%) of both the middle tract of the left anterior descending artery and the first diagonal branch was detected by coronary angiography (Fig. 2). Lesions were treated with angioplasty and drug-eluting stent implantation. Cardiac magnetic resonance imaging confirmed the diagnosis of left ventricular noncompaction (LVNC) (Fig. 3A–D).Left ventricular noncompaction is a primary cardiomyopathy of genetic origin1 that may cause congestive heart failure. Concomitant coronary artery disease (CAD) is uncommon, even more so in a patient without cardiac risk factors.A theoretical explanation of this finding might be that the compaction of intertrabecular recesses in the left ventricular myocardium occurs simultaneously with the development of the coronary vasculature between 12 and 18 weeks' gestation.2The anomalous origin of coronary arteries and coronary fistulae have previously been described together with LVNC in isolated case reports in the literature.The co-occurrence of LVNC and CAD has been described only a few times before,3–7 and prior literature on LVNC with congestive heart failure does not report any association with acquired CAD.The presented case shows a peculiar association relevant for future reference in prospective studies to be done in cases of LVNC with cardiomyopathy.The evidence of significant coronary stenosis in combination with LVNC without documented dyslipidemia has led to the hypothesis of a common genetic involvement for myocardial compaction and coronary endothelium development. This speculation is bolstered by the identification of a family with familial CAD and LVNC.8In vitro and in the developing mouse heart, deletion of the Ino80 chromatin remodeler in vascular endothelial cells prevents ventricular compaction. This correlates with scarce coronary vascularization: Ino80 deletion results in a defect in coronary vessel formation, which means coronary arteries develop to become significantly smaller than normal.9 Arbustini et al10 provided an updated list of other genes that are associated with LVNC.Therefore, LVNC is a morphogenetic defect that occurs at the site and time of embryologic development of the coronary arteries (intramyocardial section) that could potentially affect the biology of coronary arteries and increase the risk of early development of CAD.In conclusion, whether the association of CAD with LVNC is coincidental is a question that needs further research. This report contributes to the case recording and opens the prospects for the possibility of some association in patients with LVNC cardiomyopathy.

The Electrocardiogram in the Diagnosis and Management of Patients With Left Ventricular Non-Compaction.

Left ventricular non-compaction (LVNC) is characterised by prominent left ventricular trabeculae and deep inter-trabecular recesses. Although considered a distinct cardiomyopathy, prominent trabeculations may also be found in other cardiomyopathies, in athletes or during pregnancy. Clinical presentation includes heart failure symptoms, systemic embolic events, arrhythmias and sudden cardiac death. Currently, LVNC diagnosis relies on imaging criteria, and clinicians face several challenges in the assessment of patients with prominent trabeculations. In this review, we summarise the available information on the role of the ECG in the diagnosis and management of LVNC. ECG abnormalities have been reported in 75-94% of adults and children with LVNC. The lack of specificity of these ECG abnormalities does not allow (in isolation) to diagnose the condition. However, when considered in a set of diagnostic criteria including family history, clinical information, and imaging features, the ECG may differentiate between physiological and pathological findings or may provide clues raising the possibility of specific underlying conditions. Finally, some ECG features in LVNC constitute ominous signs that require a stricter patient surveillance or specific therapeutic measures. The ECG remains a cornerstone in the diagnosis and management of patients with cardiomyopathies, including LVNC.

Left ventricular noncompaction: a disorder with genotypic and phenotypic heterogeneity-a narrative review.

Background and ObjectiveLeft ventricular noncompaction (LVNC) is a cardiomyopathy characterized by excessive trabecular formation and deep recesses in the ventricular wall, with a bilaminar structure consisting of an endocardial noncompaction layer and an epicardial compacted layer. Although genetic variants have been reported in patients with LVNC, understanding of LVNC and its pathogenesis has not yet been fully elucidated. We addressed the latest findings on genes reported to be associated with LVNC morphogenesis and possible pathologies to understand the diverse spectrum between genotype and phenotype in LVNC. Also, the latest findings and issues related to the diagnosis of LVNC were summarized.MethodsThis article is written as a commentary narrative review and will provide an update on the current literature and available data on common forms of LVNC published in the past 30 years in English through to May 2022 using PubMed.Key Content and FindingsFamilial forms of LVNC are frequent, and autosomal dominant mode of inheritance has been predominantly observed. Several of the candidate causative genes are also mutated in other cardiomyopathies, suggesting a possible shared molecular and/or cellular etiology. The most common gene functions were sarcomere function whereas genes in mice LVNC models were involved in heart development. Echocardiography and cardiac magnetic resonance imaging (CMR) are useful for diagnosis although there are no unified criteria due to overdiagnosis of imaging, poor consistency between techniques, and lack of association between trabecular severity and adverse clinical outcomes.ConclusionsThis review reflects the current lack of clarity regarding the pathogenesis and significance of LVNC and showed the complexity of imaging diagnostic criteria, interpretation of the role of LVNC as a cause, and uncertainty regarding the specific genetic basis of LVNC.

Imaging Features of Pediatric Left Ventricular Noncompaction Cardiomyopathy in Echocardiography and Cardiovascular Magnetic Resonance.

Background: Left ventricular noncompaction (LVNC) is a distinct cardiomyopathy characterized by the presence of a two-layer myocardium with prominent trabeculation and deep intertrabecular recesses. The diagnosis of LVNC can be challenging because the diagnostic criteria are not uniform. The aim of our study was to evaluate echocardiographic and CMR findings in a group of children with isolated LVNC. Methods: From February 2008 to July 2021, pediatric patients under 18 years of age at the time of diagnosis with echocardiographic evidence of isolated LVNC were prospectively enrolled. The patients underwent echocardiography and contrast-enhanced cardiovascular magnetic resonance (CMR) with late gadolinium enhancement to assess myocardial noncompaction, ventricular size, and function. Results: A total of 34 patients, with a median age of 11.9 years, were recruited. The patients were followed prospectively for a median of 5.1 years. Of the 31 patients who met Jenni’s criteria in echocardiography, CMR was performed on 27 (79%). Further comprehensive analysis was performed in the group of 25 patients who met the echocardiographic and CMR criteria for LVNC. In echocardiography, the median NC/C ratio in systole was 2.60 and in diastole 3.40. In 25 out of 27 children (93%), LVNC was confirmed by CMR, according to Petersen’s criteria, with a median NC/C ratio of 3.27. Conclusions: (1) Echocardiography precisely identifies patients with LVNC. (2) Echocardiography is a good method for monitoring LV systolic function, but CMR is indicated for the precise assessment of LV remodeling and RV size and function, as well as for the detection of myocardial fibrosis.

Progress in echocardiographic diagnosis of left ventricular noncompaction

心肌致密化不全是一种发育不全的心肌表型，病理特征是心室内异常增多的突出的肌小梁和深陷的小梁间隐窝。目前主要检查方法包括超声心动图、心脏磁共振成像以及心脏CT，其中超声心动图是首选的影像学诊断技术，但其各个标准并不统一，尚无金标准。现就左心室心肌致密化不全超声心动图诊断技术的进展进行回顾和综述，以期对该病的诊断有更清晰的认识和了解。.

Radiomics-Based Classification of Left Ventricular Non-compaction, Hypertrophic Cardiomyopathy, and Dilated Cardiomyopathy in Cardiovascular Magnetic Resonance.

Left Ventricular (LV) Non-compaction (LVNC), Hypertrophic Cardiomyopathy (HCM), and Dilated Cardiomyopathy (DCM) share morphological and functional traits that increase the diagnosis complexity. Additional clinical information, besides imaging data such as cardiovascular magnetic resonance (CMR), is usually required to reach a definitive diagnosis, including electrocardiography (ECG), family history, and genetics. Alternatively, indices of hypertrabeculation have been introduced, but they require tedious and time-consuming delineations of the trabeculae on the CMR images. In this paper, we propose a radiomics approach to automatically encode differences in the underlying shape, gray-scale and textural information in the myocardium and its trabeculae, which may enhance the capacity to differentiate between these overlapping conditions. A total of 118 subjects, including 35 patients with LVNC, 25 with HCM, 37 with DCM, as well as 21 healthy volunteers (NOR), underwent CMR imaging. A comprehensive radiomics characterization was applied to LV short-axis images to quantify shape, first-order, co-occurrence matrix, run-length matrix, and local binary patterns. Conventional CMR indices (LV volumes, mass, wall thickness, LV ejection fraction—LVEF—), as well as hypertrabeculation indices by Petersen and Jacquier, were also analyzed. State-of-the-art Machine Learning (ML) models (one-vs.-rest Support Vector Machine—SVM—, Logistic Regression—LR—, and Random Forest Classifier—RF—) were used for one-vs.-rest classification tasks. The use of radiomics models for the automated diagnosis of LVNC, HCM, and DCM resulted in excellent one-vs.-rest ROC-AUC values of 0.95 while generating these results without the need for the delineation of the trabeculae. First-order and texture features resulted to be among the most discriminative features in the obtained radiomics signatures, indicating their added value for quantifying relevant tissue patterns in cardiomyopathy differential diagnosis.

The prognostic role of CMR using global planimetric criteria in patients with excessive left ventricular trabeculation.

Although cardiovascular magnetic resonance (CMR) is widely used in the assessment of left ventricular non-compaction (LVNC), there are no universally accepted diagnostic criteria and limited data regarding their prognostic value. We assessed the long-term prognostic role of the planimetric global Grothoff's criteria and of the CMR findings in predicting adverse cardiovascular events (CE). We prospectively enrolled 78 patients (46.7 ± 18.7 years, 33.3% females) with documented positive Jenni's echocardiographic criteria for LVNC. Cine images were used to quantify function parameters and to assess for the presence of all four quantitative Grothoff's criteria (global Grothoff's criteria). Late gadolinium enhancement (LGE) images were acquired to detect the presence of replacement myocardial fibrosis. Petersen's CMR criterion for LVNC (NC/C ratio > 2.3 in at least one myocardial segment) was fulfilled in the whole population. Twenty-six patients fulfilled the global Grothoff's criteria (four out of four). The mean duration of the follow-up was 44.2 ± 27.4 months and 28 CE were registered: 10 ventricular tachycardias, 12 episodes of heart failure (HF), four strokes, and two cardiac deaths. In the multivariate analysis, the independent predictive factors for CE were positive global Grothoff's criteria (hazard ratio, HR = 3.33, 95% CI = 1.52-7.29; p = 0.003) and myocardial fibrosis (HR = 2.41, 95% CI = 1.08-5.36; p = 0.032). Positive global Grothoff's criteria and myocardial fibrosis were powerful predictors of CE in patients with a diagnosis of LVNC by CMR Petersen's criterion. Thus, we strongly suggest a step approach confirming the diagnosis of LVNC by using the global planimetric Grothoff's criteria, which showed a prognostic impact. • Positive global Grothoff's criteria and replacement myocardial fibrosis were powerful predictors of cardiovascular events in patients with a diagnosis of LVNC by CMR Petersen's criterion. • Positive global Grothoff's criteria were associated with a higher frequency of ventricular arrhythmias in patients with a diagnosis of LVNC by CMR Petersen's criterion.

Does Employing a Flowchart Improve the Diagnostic Performance of Cardiac Magnetic Resonance Imaging in Left Ventricular Noncompaction?

To test the hypothesis that making a diagnosis of left ventricular noncompaction (LVNC) on cardiac magnetic resonance imaging (CMRI) using a noncompacted-to-compacted (NC/C) myocardium ratio > 2.3 would yield significant errors, and also to test a diagnostic flowchart in patients who undergo CMRI and have clinical and echocardiographic findings suggesting LVNC could improve the diagnosis of LVNC. A total of 84 patients with LVNC and 162 controls consisting of patients with other diseases and healthy participants who had CMRI and echocardiograms were selected. The diagnostic flowchart of the study involved the use of CMRI with all available sequences for patients with a high pre-test probability of LVNC. Two blinded independent cardiologists evaluated echocardiograms, and patients with suggestive echocardiographic and clinical findings for LVNC were enrolled in the high pre-test probability of LVNC group. Two independent blinded radiologists established the diagnosis of LVNC based on NC/C ratio > 2.3 on CMRI, and they were allowed to re-assess the patients following the diagnostic flowchart. An NC/C ratio > 2.3 identified 83 of 84 LVNC patients, yet incorrectly classified 48 of the 162 controls as having LVNC. Radiologists changed their decision in 23 of 48 patients with incorrect diagnoses, resulted in improved specificity (70.4% to 84.6%). The use of the CMRI diagnostic flowchart in the high pre-test probability group yielded a high specificity (97.2%) and accuracy (95.9%). LVNC diagnosed by CMRI based on the NC/C criterion can lead to overdiagnosis, whereas only using CMRI in patients with a high pre-test probability of LVNC with all available sequences may improve the diagnostic performance.

Deploying deep learning approaches to left ventricular non-compaction measurement

Left ventricular non-compaction (LVNC) is a rare cardiomyopathy characterized by abnormal trabeculations in the left ventricle cavity. Although traditional computer vision approaches exist for LVNC diagnosis, deep learning-based tools could not be found in the literature. In this paper, a first approach using convolutional neural networks (CNNs) is presented. Four CNNs are trained and tuned to automatically segment the compacted and trabecular areas of the left ventricle for a population of patients diagnosed with hypertrophic cardiomyopathy. We have evaluated them in the learning phase with an NVIDIA Turing GPU and 2 competitive Xeon CPUs. Inference results confirm that deep learning-based approaches can achieve excellent results in the diagnosis and measurement of LVNC. The final proposal enables real-time analysis of 15-slice MRI studies on both GPU and CPU, obtaining noticeable speed-ups with regard to manual, semi-automatic and fully automatic approaches. Additionally, a subjective evaluation of the output images with the identified zones is performed by expert cardiologists, with a perfect visual agreement for all the slices, outperforming already existing automatic tools.

LEFT VENTRICULAR NONCOMPACTION: AN UNUSUAL CAUSE OF HEART FAILURE

SESSION TITLE: Medical Student/Resident Cardiovascular Disease Posters SESSION TYPE: Med Student/Res Case Rep Postr PRESENTED ON: October 18-21, 2020 INTRODUCTION: Left ventricular noncompaction (LVNC) is a cardiomyopathy characterized by prominent trabeculae and deep intertrabecular recesses in communication with the ventricular cavity. LVNC affects up to 1.3% of the population and is responsible for 3-4% of all heart failure syndromes. CASE PRESENTATION: A 76-year-old male presented to the emergency department due to increasing dyspnea. He endorsed lower extremity swelling and orthopnea. He was tachypneic and hypoxemic. Lung auscultation revealed bibasilar crackles. Bilateral pitting pedal edema was noted. BNP was elevated at 861 pg/mL and troponins were elevated at 0.6 ng/L. Electrocardiogram demonstrated normal sinus rhythm with T-wave inversions in the inferolateral leads. Chest radiograph showed cardiomegaly, vascular congestion and bilateral pleural effusions suggestive of congestive heart failure syndrome. Transthoracic echocardiogram revealed left ventricular ejection fraction of 25-30%. Prominent trabeculae and deep interventricular recesses were noted, concerning for LVNC. Coronary angiography showed moderate nonobstructive coronary artery disease without need for percutaneous coronary intervention. His clinical condition improved with diuretic therapy, blood pressure control, and initiation of guideline-directed medical therapy. During his hospitalization, telemetry captured 6 beats of non-sustained ventricular tachycardia. Lifevest was placed to evaluate need for ICD implantation after optimization of medical therapy. He was scheduled for follow up echocardiogram in 3 months and counseled on the need for family screening. DISCUSSION: LVNC is thought to be a congenital cardiomyopathy caused by failure of cardiac sinusoids to compact during embryogenesis. However, studies demonstrate development of LV trabeculations on serial echocardiograms suggesting LVNC may be an acquired cardiomyopathy. Predisposition to trabeculation development may be genetically determined, LVNC has a 30% rate of familial recurrence. Excessive preload and afterload are thought to contribute as the development of trabeculations is noted in chronic renal failure and valvular heart disease. Criteria for diagnosis of LVNC vary and are not universally agreed upon. Thus, a multi-modality imaging approach involving echocardiography and cardiac MRI is recommended. LVNC is associated with significant complications, 56% of patients will develop heart failure syndrome and up to 40% will require heart transplantation. Additionally, 11% of patients undergo ICD implantation for ventricular arrhythmias and 7.6% of patients die of sudden cardiac death. Risk of thromboembolism ranges from 21-38%, likely due to turbulent flow through intertrabecular recesses. Three-year mortality rate is estimated at 14%. CONCLUSIONS: LVNC is a relatively common cardiomyopathy with significant morbidity and mortality. We urge clinician awareness to facilitate prompt diagnosis and management. Reference #1: Bhatia, Nisha L., et al. “Isolated Noncompaction of the Left Ventricular Myocardium in Adults: A Systematic Overview.” Journal of Cardiac Failure, vol. 17, no. 9, 2011, pp. 771–778., doi:10.1016/j.cardfail.2011.05.002. Reference #2: Tian, Julia, et al. “Left Ventricular Noncompaction: A Rare Case of Nonischemic Cardiomyopathy.” Case Reports in Cardiology, vol. 2019, 2019, pp. 1–3., doi:10.1155/2019/5637638. Reference #3: Gati, Sabiha, et al. “Adult Left Ventricular Noncompaction.” JACC: Cardiovascular Imaging, vol. 7, no. 12, 2014, pp. 1266–1275., doi:10.1016/j.jcmg.2014.09.005. DISCLOSURES: No relevant relationships by Gopika Dasari, source=Web Response No relevant relationships by Anneka Hutton, source=Web Response No relevant relationships by Eli Levine, source=Web Response No relevant relationships by Shaheen Mizyed, source=Web Response

New Variant of &lt;i&gt;MYH7&lt;/i&gt; Gene Nucleotide Sequence in Familial Non-Compaction Cardiomyopathy with Benign Course

Left ventricular non-compaction (LVNC) is a genetically determined cardiomyopathy characterized by different variants of the clinical course. LVNC family cases allow to study in more details the role of genetic factors in cardiomyopathy pathogenesis and prognosis, as well as to determine clinical course features. Aim . To demonstrate a case of LVNC familial form with a stable benign course and to assess the possible relationship of the detected mutation with the disease prognosis. Material and methods . A family with LVNC was included in the study. The patient with LVNC and his 1st and 2nd degree of kinship relatives underwent clinical and instrumental examination and exome sequencing. LVNC was diagnosed in proband and proband's father. LVNC diagnosis was established basing on echo and magnetic resonance imaging (MRI) criteria. Results . This article presents the results of a comprehensive clinical and instrumental examination of a family with LVNC with a new variant in the MYH7 gene, the absence of intramyocardial fibrosis according to MRI of the heart and a favorable disease course, both in proband's father and proband himself. A comparative analysis of the data obtained with the results of recent large-scale studies and meta-analyses devoted to the study of prognostic factors in patients with LVNC, with identified variants in the MYH7 gene. Conclusions . The variant of p.His1338Pro identified in the MYH7 gene may be associated with the development of LVNC with a benign course.

The role of multimodality imaging in the diagnosis of left ventricular noncompaction.

Left ventricular noncompaction (LVNC) is a heterogeneous entity and, in reality, a likely spectrum of disease which is clinically associated with arrhythmia, thromboembolic complications and sudden cardiac death. With the emergence of cardiac MRI (cMRI), the phenotype is increasingly more prevalent, resulting in clinical uncertainty regarding prognosis and management. The currently accepted hypothesis suggests an early embryonic arrest of the normal, sequential myocardial compaction process. LVNC is observed in isolation or in association with congenital heart disease, neuromuscular disease or a vast array of genetic cardiomyopathies. Definition of the entity varies among international society guidelines with differences both within and between imaging modalities, predominantly echocardiography and cMRI. Long-term prognostic data are emerging but due to the intrinsic variability in reported prevalence, selection bias and lack of pathological to prognostic correlation, there are many uncertainties regarding clinical management. This review seeks to clarify the role of multimodality imaging in diagnosis and management of the disease. We discuss the sensitivity and specificity of the current diagnostic criteria, as well as the nuances in diagnosis using the available imaging modalities.

Late gadolinium enhancement on CMRI in patients with LV noncompaction: An overestimated phenomenon?

Background and purposeSubendocardial fibrosis is recognized finding in left ventricular noncompaction (LVNC); however, the evidence regarding the patterns and the frequency of late gadolinium enhancement (LGE) on cardiac magnetic resonance imaging (CMRI) is controversial. The present study sought to assess the frequency and patterns of LGE in LVNC. Materials and methodsPatients with a diagnosis of LVNC based on the echocardiographic CMRI criteria were enrolled in this retrospective study. The myocardial noncompacted-to-compacted ratio (NC/C) was perpendicularly measured on short-axis cine images. Two observers jointly assessed the presence of LGE on short-axis LGE images. The long-axis four-chamber and long-axis two-chamber images were used to confirm the presence of LGE if needed. ResultsA total of 42 patients, 20 females (47.7%) and 22 were males (52.3%), were included in the study. The median age of the patients was 32.4 years (range 18–63). LGE was identified in 2 out of 42 patients (4.7%) with LVNC. LGE was identified in the interventricular septum involving the subendocardial layer and noncompacted lateral myocardial wall involving the trabeculae at mid-ventricular and basal levels. ConclusionLGE is uncommon in patients with LVNC. We highlight that the diagnosis of LVNC in patients with atypical LGE patterns, such as epicardial or transmural enhancement, should be reappraised and the other cardiac diseases should be discarded before establishing the final diagnosis.

Left-ventricular non-compaction–comparison between different techniques of quantification of trabeculations: Should the diagnostic thresholds be modified?

Diagnosis of left ventricular non-compaction (LVNC) is challenging, and different imaging techniques propose different criteria. To compare the value of two-dimensional transthoracic echocardiography (2D-TTE) and cardiac magnetic resonance (CMR) criteria in diagnosing LVNC, and to test a new trabecular quantification method obtained by 2D-TTE, exploring its relationship with CMR non-compacted mass quantification. From a multicentre French study, we selected 48 patients with LVNC and 20 with dilated cardiomyopathy (DCM) who underwent 2D-TTE and CMR. Current 2D-TTE (Jenni et al.) and CMR criteria (Petersen et al., Jacquier et al.), were tested. A new 2D-TTE method of trabecular quantification (percentage of trabecular area) was also proposed, and compared with current criteria. The best cut-off values for the diagnosis of LVNC were a non-compacted/compacted ratio≥2.3 (Petersen et al.), a trabeculated left ventricular mass≥20% (Jacquier et al.) and a non-compacted/compacted ratio≥1.8 (Jenni et al.). Lowering the threshold for the criterion of Jenni et al. from>2 to ≥1.8 improved its sensitivity from 69% to 98%. The 2D-TTE percentage of trabecular area was 25.9±8% in the LVNC group vs. 9.9±4.4% in the DCM group (P<0.05), and was well correlated with CMR non-compacted mass (r=0.65; P<0.05). A 15.8% threshold value for 2D-TTE percentage of trabecular area predicted LVNC diagnosis with a specificity of 95% and a sensitivity of 92%; its sensitivity was better than that for the criteria of Jenni et al. (P<0.01) and Petersen et al. (P=0.03). Revision of the current threshold for the criterion of Jenni et al. from>2 to ≥1.8 is necessary to improve LVNC diagnosis in patients with left ventricular dysfunction. A new 2D-TTE trabecular quantification method improves TTE diagnosis of LVNC.

Influence of observer-dependency on left ventricular hypertrabeculation mass measurement and its relationship with left ventricular volume and ejection fraction - comparison between manual and semiautomatic CMR image analysis methods.

Recent studies concerning left ventricular noncompaction (LVNC) suggest that the extent of left ventricular (LV) hypertrabeculation has no impact on prognosis. The variety of methods of LV noncompacted myocardial mass (NCM) assessment may influence the results. Hence, we compared two methods of NCM estimation: largely observer-independent Hautvast's(H) computed algorithm-based approach and commonly used Jacquier's(J) method, and their associations with LV end-diastolic volume (EDV) and ejection fraction (EF). Cardiac magnetic resonance images of 77 persons (45±17yo) - 42 LVNC, 15 non-ischemic dilative cardiomyopathy, 20 control group were analyzed. LVNC patients were divided into the subgroup with normal (LVNCN) and high EDV (LVNCDCM). NCM and total left ventricular mass (LVM) were estimated by Hautvast's [excluding intertrabecular blood (ITB) and including papillary muscles (PMs) into NCM] and Jacquier's approach (including ITB and PMs, if unclearly distinguished, into NCM). The cut-off value of NCM for LVNC diagnosis was 22% (AUC 0.933) for NCMH/LVMH and 26% (AUC 0.883) for NCMJ/LVMJ. Inter- and intra-observer variability (estimated by coefficient of variation [CoV] and intraclass correlation coefficient [ICC]) of NCMH/LVMH appeared better than of NCMJ/LVMJ (CoV 4.3%, ICC 0.981 and CoV 4.9%, ICC 0.978; respectively for NCMH/LVMH, while for NCMJ/LVMJ: CoV 19.7%, ICC 0.15 and CoV 12.9%, ICC 0.504). In LVNCN subgroup, the correlation between EDV and NCMH was stronger than NCMJ (r = 0.677, p<0.001 vs. r = 0.480, p = 0.038; respectively). In LVNC the EDV correlated with NCMH/LVMH (r = 0.391, p<0.01), but not with NCMJ/LVMJ. In the overall group a relationship was present between EF and NCMH/LVMH (r = -0.449, p<0.001), but not NCMJ/LVMJ. Only NCMH/LVMH explained the variability of EDV (b 0.434, p<0.001). Choosing a method of NCM assessment that is less observer-dependent might increase the reliability of results. The impact of method selection on the LV parameters and cut-off values for hypertrabeculation should be further investigated.

Co-Phenotype of Left Ventricular Non-Compaction Cardiomyopathy and Atypical Catecholaminergic Polymorphic Ventricular Tachycardia in Association With R169Q, a Ryanodine Receptor Type 2 Missense Mutation.

Left ventricular non-compaction (LVNC) is a cardiomyopathy characterized by prominent trabeculae and intertrabecular recesses. We present the cases of 3 girls with the sameryanodine receptor type 2(RYR2) mutation who had phenotypes of both catecholaminergic polymorphic ventricular tachycardia (CPVT) and LVNC .Methods and Results:Clinical characteristics and genetic background of the 3 patients were analyzed retrospectively. Age at onset was 5, 6, and 7 years, respectively. Clinical presentation included syncope during exercise in all 3 patients and cardiac arrest in 2 patients. LVNC diagnosis was confirmed on echocardiography according to previously defined criteria. Exercise stress testing provoked ventricular arrhythmia in two of the patients. Beta-blockers (n=3) and flecainide (n=2) were given, and an implantable cardioverter defibrillator was used in 1 patient. Genotyping identified the sameRYR2-R169Q missense mutation and no other CPVT- or LVNC-related gene mutations. Functional analysis of the mutation using HEK293 cells with single-cell Ca2+imaging and [3H]ryanodine binding analysis, indicated a gain of function: a reduced threshold for overload-induced Ca2+release from the sarcoplasmic reticulum and increased fractional Ca2+release. The rare association of LVNC and CPVT phenotypes withRYR2mutations is less likely to be coincidental. Screening for life-threatening arrhythmias using exercise or pharmacologic stress tests is recommended in LVNC patients to prevent sudden cardiac death in those with preserved LV function.