Prominent Left Ventricular Trabeculations Research Articles

Left Ventricular Non-Compaction: Evolving Concepts

Left ventricular non-compaction (LVNC) is a rare heart muscle disease defined by the presence of prominent left ventricular trabeculation, deep intertrabecular recesses, and a thin compact layer. Several hypotheses have been proposed regarding its pathogenesis, with the most recently accepted one being that compact layer and trabeculated layers develop independently according to an “allometric growth”. The current gold-standard diagnostic criteria (in particular, the Petersen index non-compaction/compaction ratio > 2.3) reflect an excess of myocardial trabeculation, which is not a specific morpho-functional feature of LVNC cardiomyopathy but merely a “phenotypic trait”, even described in association with other myocardial disease and over-loading conditions. Accordingly, the European Society of Cardiology (ESC) guidelines have definitively abolished the term ‘LVNC cardiomyopathy’. Recently, evolving perspectives led to the restoration of LVNC cardiomyopathy by distinguishing “hypertrabeculation phenotype” and “non-compaction phenotype”. It has been proposed that the disease-specific pathophysiologic mechanism is a congenitally underdevelopment of the compact layer accounting for an impairment of the left ventricular systolic function. Future prospective research should focus on the clinical and prognostic relevance of compact layer thinning rather than excessive trabeculation, which could significantly influence the management of patients with LVNC. The review aims to update current knowledge on the pathogenesis, genetics, and diagnostic criteria of LVNC, offering modern insights for future perspectives.

Cardiac Segmental Strain Analysis in Pediatric Left Ventricular Noncompaction Cardiomyopathy

Left ventricular noncompaction cardiomyopathy (LVNC) is characterized by prominent left ventricular trabeculations, often leading to myocardial dysfunction and death or heart transplantation. Although diagnostic echocardiographic criteria exist for LVNC, segmental speckle-tracking strain patterns have not been described in pediatric LVNC. The objectives of this study were to characterize segmental noncompaction, evaluate segmental speckle-tracking strain, and characterize peak strain values in children with LVNC with adverse clinical outcomes. Echocardiographic noncompaction/compaction ratios and segmental radial, circumferential, and longitudinal strain were measured retrospectively in children with LVNC (January 2000 to June 2013). Segmental strain of the cohort was compared with that in control subjects matched by age and body surface area. One hundred one pediatric patients with LVNC were included (median age 2.8years; range, 0-19.4years); 71 patients survived (benign group) and 30 patients did not survive or required heart transplantation (adverse group). The adverse group was younger at diagnosis (P=.03), with lower ejection fractions (P<.0001) compared with the benign group. Both groups demonstrated increased noncompaction/compaction ratios within apical segments, with significantly increased involvement in antero- and inferolateral midpapillary segments in the adverse group (P<.005). Radial, circumferential, and longitudinal strain of nearly all left ventricular segments were significantly decreased in the adverse compared with the benign group and in pediatric LVNC patients compared with control subjects. Global radial (7.4±9.7% vs 19.6±16.5%, P<.0001), circumferential (-8.4±7.0% vs -18.9±6.9%, P<.0001), and longitudinal (-7.1±5.2% vs -11.8±5.3%, P<.0001) strain were all significantly decreased in the adverse group compared with the benign group. Segmental radial, circumferential, and longitudinal strain are decreased in pediatric patients with LVNC compared with control subjects and lowest in those with adverse compared with benign outcomes. LVNC appears to be a global disease affecting deformation in all regions, including compacted myocardial segments.

OUTCOMES OF PREGNANCY IN WOMEN WITH LEFT VENTRICULAR NONCOMPACTION

Left ventricular noncompaction (LVNC) is an inherited cardiomyopathy characterized by prominent left ventricular trabeculations and deep intertrabecular recesses. LVNC is associated with an increased risk of arrhythmia, embolic events, and heart failure. There is limited information regarding

Abstract 17252: Left Ventricular Noncompaction in Patients With Preserved Ejection Fraction is Associated With Increased Cardiac Hospitalizations

Introduction: Prominent left ventricular trabeculations or left ventricular non-compaction (LVNC) is observed now more often with cardiac magnetic resonance imaging (MRI). The significance of LVNC in patients with preserved ejection fraction remains unknown however it may be a precursor to cardiomyopathy. Hypothesis: This study is aimed to evaluate the clinical outcome of patients with LVNC and preserved LV function compared to patients with normal myocardial anatomy and function. Methods: This is a retrospective analysis of patients referred for cardiac MRI between October 2012 and July 2017. Patients with hypertrophic cardiomyopathy, ischemic heart disease and infiltrative heart disease were excluded. Patients with prominent trabeculations and a noncompacted to compacted myocardial ratio ≥ 2.3 with a preserved left ventricular ejection fraction of ≥ 50% were included. The primary outcome is defined as cardiac hospitalizations resulting from chest pain, arrhythmias, syncope, and congestive heart failure. These patients were compared to patients who underwent cardiac MRI with preserved function and normal myocardial anatomy. Results: There were a total of 39 patients who met criteria of LVNC with preserved function by MRI. These were compared to 59 patients with preserved function and normal myocardial anatomy on MRI. There was no significant difference in demographics and LV size and function between the groups. In comparison with the control group, the LVNC group had a mean age of 44 ± 14 versus 42 ± 16, 62% female sex versus 59%, LV EF of 59 ± 5% versus 62 ± 6%, LV end diastolic volume of 148 ± 26 ml versus 146 ± 40 ml. There were a total of 7 cardiac hospitalizations, of which 5 occurred in patients with LVNC. LVNC was associated with a greater than 4-fold increased risk of events (HR4.6, 95%CI 1.0-21.8) (figure) Conclusions: In patients with preserved EF, LVNC anatomy is significantly associated with increased cardiac hospitalizations.

Prevalence and Prognostic Significance of Left Ventricular Noncompaction in Patients Referred for Cardiac Magnetic Resonance Imaging.

Presence of prominent left ventricular trabeculation satisfying criteria for left ventricular noncompaction (LVNC) on routine cardiac magnetic resonance examination is frequently encountered; however, the clinical and prognostic significance of these findings remain elusive. This registry aimed to assess LVNC prevalence by 4 current criteria and to prospectively evaluate an association between diagnosis of LVNC by these criteria and adverse events. There were 700 patients referred for cardiac magnetic resonance: 42% were women, median age was 70 years (range, 45-71 years), mean left ventricular ejection fraction was 51% (±17%), and 32% had late gadolinium enhancement on cardiac magnetic resonance. The cohort underwent diagnostic assessment for LVNC by 4 separate imaging criteria-referenced by their authors as Petersen, Stacey, Jacquier, and Captur, with LVNC prevalence of 39%, 23%, 25% and 3%, respectively. Primary clinical outcome was combined end point of time to death, ischemic stroke, ventricular tachycardia/ventricular fibrillation, and heart failure hospitalization. Secondary clinical outcomes were (1) all-cause mortality and (2) time to the first occurrence of any of the following events: cardiac death, ischemic stroke, ventricular tachycardia/ventricular fibrillation, or heart failure hospitalization. During a median follow-up of 7 years, there were no statistically significant differences in assessed outcomes noted between patients with and without LVNC irrespective of the applied criteria. Current criteria for the diagnosis of LVNC leads to highly variable disease prevalence in patients referred for cardiac magnetic resonance. The diagnosis of LVNC, by any current criteria, was not associated with adverse clinical events on nearly 7 years of follow-up. Limited conclusions can be made for Captur criteria due to low observed prevalence.

Coexistence of congenital left ventricular aneurysm and prominent left ventricular trabeculation in a patient with LDB3 mutation: a case report

BackgroundThe coexistence of congenital left ventricular aneurysm and abnormal cardiac trabeculation with gene mutation has not been reported previously. Here, we report a case of coexisting congenital left ventricular aneurysm and prominent left ventricular trabeculation in a patient with LIM domain binding 3 gene mutation.Case presentationA 30-year-old Asian man showed paroxysmal sinus tachycardia and Q waves in an electrocardiogram health check. There were no specific findings in physical examinations and serological tests. A coronary-computed tomography angiography check showed normal coronary artery and no coronary stenosis. Both left ventricle contrast echocardiography and cardiac magnetic resonance showed rare patterns of a combination of an apical aneurysm-like out-pouching structure with a wide connection to the left ventricle and prominent left ventricular trabecular meshwork. High-throughput sequencing examinations showed a novel mutation in the LDB3 gene (c.C793>T; p.Arg265Cys).ConclusionsOur finding indicates that the phenotypic expression of two heart conditions, congenital left ventricular aneurysm and prominent left ventricular trabeculation, although rare, can occur simultaneously with LDB3 gene mutation. Congenital left ventricular aneurysm and prominent left ventricular trabeculation may share the same genetic background.

Prominent left ventricular trabeculations in competitive athletes: A proposal for risk stratification and management

BackgroundRecently, an unexpectedly large prevalence of Left Ventricular Non Compaction (LVNC) has been reported in athletes, raising the question of the appropriateness of current diagnostic criteria. We sought to describe prevalence and clinical characteristics of athletes with suspected LVNC in a large cohort of Olympic athletes. MethodsOver 29months, 2501 consecutive athletes underwent a cardiac evaluation including physical examination, ECG, exercise test and echocardiography. Additional investigations (Cardiac Magnetic Resonance and/or genetic testing) were selectively performed in athletes with abnormal ECGs, ventricular arrhythmias, borderline LV dysfunction or positive family history. ResultsOf the 2501 athletes, 36 (1.4%) showed prominent trabeculations suggestive for LVNC. Of these, 3 (0.1%) were considered to be affected by LVNC, based on presence of LV dysfunction (ejection fraction<50%) and/or positive family history and genetic testing; these athletes were cautiously restricted from competitions and entered a clinical follow-up program. The remaining 33 athletes, in the absence of LV impairment or familial cardiac diseases, were considered normal (n=24) or unlikely affected (n=9), regardless of the extent of the trabeculations. ConclusionsIn a large athlete population, a marked LV trabecular pattern was seen in 1.4%. Only a small subset of these athletes (0.1%) showed familial, clinical and morphologic changes supporting the diagnosis of LVNC. In the vast majority of the athletes, the increased trabeculations were not associated with LV dysfunction and/or positive family history, likely representing a morphologic LV variant, deprived of clinical significance.

Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1.

Emery-Dreifuss muscular dystrophy (EDMD) is a heterogeneous genetic disorder characterized by peripheral muscular weakness often associated with dilated cardiomyopathy. We characterize clinically a large family with a mutation in FHL1 gene (p.Cys255Ser). Penetrance was 44%, 100% for males and 18% for females. The heart was the main organ involved. Affected adult males had mild hypertrophy, systolic dysfunction and restriction with non-dilated ventricles. Carriers had significant QTc prolongation. The proband presented with resuscitated cardiac arrest. There were two transplants. Pathological study of explanted heart showed fibrofatty replacement and scarring consistent with arrhythmogenic cardiomyopathy and prominent left ventricular trabeculations. Myopathic involvement was evident in all males. Females had no significant neuromuscular disease. Mutations in FHL1 cause unclassifiable cardiomyopathy with coexisting EDMD. Prognosis is poor and systolic impairment and arrhythmias are frequent. Thrombopenia and raised creatine phosphokinase should raise suspicion of an FHL-1 disorder in X-linked cardiomyopathy.

Left ventricular noncompaction as diagnosed by established cardiac magnetic resonance imaging criteria is not associated with increased adverse events compared to non-ischemic dilated cardiomyopathy

Background Left ventricular noncompaction (LVNC) is classified by the American Heart Association as a primary genetic cardiomyopathy and is attributed to defects in cardiac embryogenesis resulting in the intrauterine arrest of the compaction of the loose meshwork that makes up the fetal myocardium. From echocardiographic data, the prevalence of LVNC has been estimated at 0.05% of the general population. With the increasing use of cardiac magnetic resonance imaging (CMR), there has been a surge in the reports of patients with LVNC. Interestingly, many patients that have been diagnosed with non-ischemic dilated cardiomyopathy (NIDCM) have also been noted to have prominent left ventricular trabeculations. We sought to evaluate the difference in clinical outcomes in patients with NIDCM compared to those with LVNC as diagnosed by established CMR criteria.

Cardiac vignette: Isolated case of right ventricular non-compaction

A 33-year-old female experienced a witnessed cardiac arrest in the emergency department. No significant prior medical history. Initial presenting complaint of progressive dyspnoea with ECG findings of sinus tachycardia. Subsequent development of sinus bradycardia on monitoring followed by cardiac arrest requiring cardiopulmonary resuscitation. Urgent bedside transthoracic echocardiography upon successful resuscitation showed severely dilated and dysfunctional right ventricle (RV). Emergent thrombolysis performed with subsequent CTPA showing evidence of extensive filling defects involving the right pulmonary arterial vasculature consistent with acute pulmonary embolism. Formal transthoracic and transoesophageal echocardiography (Images 1 and 2, respectively) were performed showing significant RV dilatation and prominent trabeculations within the RV apex, in keeping with RV non-compaction (RVNC). Cardiac MRI was subsequently performed (Image 3 and 4), confirming diagnosis of RV non-compaction with RV dilatation as well as prominent left ventricular trabeculations. No significant intra-cardiac luminal thrombus was seen. Patient underwent RV endomyocardial biopsy which revealed mild interstitial fibrosis along with significant fat infiltration (30-40% of the biopsy specimen was infiltrated and replaced by fat). No significant myocyte hypertrophy or myofibre disarray was noted. No significant inflammation, granulomas, iron deposits and amyloid deposits were seen. The clinical case illustrates the difficulty faced in diagnosis of RVNC. Along with RV dilatation (found in pulmonary embolism), histopathological findings point to the diagnosis of RV dysplasia. Imaging findings however raise the likelihood of RVNC. Though well described in literature, the histological features of RVNC is yet to be clearly elucidated and hence radiological and clinical correlation is suggested for accurate diagnosis.

Noncompaction cardiomyopathy, a frequently overlooked entity (…but beware of over diagnosis!)

Noncompaction cardiomyopathy, a frequently overlooked entity (…but beware of over diagnosis!)

Overdiagnosis of Left Ventricular Noncompaction

Introduction: Left ventricular noncompaction (LVNC) is characterized by prominent left ventricular trabeculations and deep intertrabecular recesses, and is classically described as carrying a grave prognosis. Common clinical characteristics include young age, risk of systemic thromboembolism, ventricular arrhythmias, and inexorable progression toward death or transplantation. The goal of this study was to identify all cases of LVNC and ‘prominent trabeculation’ (TRN) diagnosed at our institution over a ten year period, and to attempt to validate the diagnoses. Hypothesis: As improved echocardiographic technology has allowed for easier identification of ventricular trabeculae, LVNC and TRN are being overdiagnosed. Methods: Echocardiography reports from 1999–2009 at our institution with TRN and/or LVNC were termed “positive,” and any reports without notation of TRN and/or LVNC in this cohort of patients were termed “negative.” In addition, we reviewed all charts for concomitant cardiac MRIs and cardiac transplant status. We evaluated a) the consistency with wich LVNC or TRN were noted on echocardiograms on the same patients, and b) concordance with other diagnostic modalities (cardiac MRI and pathology from explanted hearts). Results: 709 patients had a total of 1428 echocardiograms, of which 1015 were positive. 71% of the cohort was male (n = 505), and the average age was 61 years. 19% of positive echocardiograms (n = 1015) occurred in patients with relatively preserved systolic function (LVEF > 45%). Out of 466 patients (66% of the cohort) with repeat echocardiograms during the time period studied, 12% had consistently positive repeat echocardiograms, 63% had consistently negative repeat echocardiograms, and 25% had a mixture of positive and negative echocardiograms. Out of 48 patients who subsequently underwent cardiac transplantation, only 3 (6%) had TRN or LVNC confirmed on pathology review. Of 51 patients who underwent cardiac MRI, 8 (16%) confirmed the presence of TRN or LVNC. Conclusion: In our study cohort, there was little reproducibility for a diagnosis of LVNC or TRN by echocardiography, and very little correlation with findings on cardiac MRI or pathology. In addition, the clinical characteristics of the study population were very distinct from the classical description of patients with LVNC. Given the clinical and psychological ramifications of labeling a patient with these diagnoses, we urge reconsideration of the diagnostic criteria.

Miocardiopatía no compactada: una causa poco frecuente de taquicardia ventricular

We present the case of a patient who was previously diagnosed of hypertrophic cardiomyopathy. The patient was admitted to our coronary unit due to a sustained ventricular tachycardia picture. A coronariography was performed as part of the ventricular tachycardia study protocol. It showed angiographically normal epicardic arteries. In the ventriculography, there was a pattern of dilated cardiomyopathy with prominent left ventricular trabeculation, which suggested the diagnosis of non-compacted cardiomyopathy (NCC). The findings of the transthoracic echocardiography, that showed a dilated and hypertrophic left ventricle, with very depressed systolic function, and ventricular myocardium with a thick internal non-compacted endocardium, with a meshwork of multiple trabeculations and intracardic recesses in communication with the ventricular cavity, confirmed this diagnosis. There continues to be little knowledge on NCC and thus it is probably underdiagnosed. It must be considered in the differential diagnosis of patients diagnosed of hypertrophic or dilated cardiomyopathy.

Diagnostic impact of prominent left ventricular trabeculation: Echocardiographic differentiation of secondary hypertrophy vs. dilated cardiomyopathy vs. isolated ventricular non-compaction Philipp A. Kaufmann, Christine Attenhofer-Jost, Erwin Oechslin, Rolf Jenni. Echocardiography, University Hospital, Zurich, Switzerland

Diagnostic impact of prominent left ventricular trabeculation: Echocardiographic differentiation of secondary hypertrophy vs. dilated cardiomyopathy vs. isolated ventricular non-compaction Philipp A. Kaufmann, Christine Attenhofer-Jost, Erwin Oechslin, Rolf Jenni. Echocardiography, University Hospital, Zurich, Switzerland

Frequency and location of prominent left ventricular trabeculations at autopsy in 474 normal human hearts: Implications for evaluation of mural thrombi by two-dimensional echocardiography

The frequency and location of prominent left ventricular trabeculations were studied in 474 autopsy specimens from subjects evenly distributed by sex and age. These structures were observed in 323 (68%) of the hearts, and their frequency was similar in male (72%) and female (65%) subjects. Neither the frequency nor the location varied appreciably with age. Among the 323 hearts with prominent left ventricular trabeculations, 172 (53%) exhibited 2 or more; thus, the total number of trabeculations was 582. Of these 582 trabeculations, 493 (85%) were septoparietal bundles that inserted into both the free wall and the septum. Trabeculations also were observed between two points on the ventricular septum in 37 (6%) of the hearts and between two points along the free wall in 36 (6%). Less common patterns included trabeculations between the ventricular septum and the posteromedial papillary muscle in 10 hearts (2%), the ventricular septum and the anterolateral papillary muscle in 2, the free wall and the posteromedial papillary muscle in 2, the two papillary muscles in 1 and the apex and the ventricular septum in 1. Accordingly, prominent left ventricular trabeculations are considered to be common variants of the normal human heart. Their size, shape and location may lead to their being misinterpreted, possibly as mural thrombi, by two-dimensional echocardiography.