Coronary Angiography in Patients With Left Ventricular Hypertrabeculation/Noncompaction.

BACKGROUND: Left ventricular hypertrabeculation/noncompaction (LVHT) is a cardiac abnormality of unknown pathogenesis, frequently associated with neuromuscular disorders. The relevance of coronary artery disease (CAD) in LVHT is largely unknown. This study aimed to assess the role of CAD as a prognostic marker in LVHT. METHODS: Data from patients with LVHT were collected from an echocardiographic laboratory. The hospital information system was retrospectively screened for coronary angiography. The association of CAD with clinical, echocardiographic, and neurologic baseline parameters was assessed. End points were all-cause death and heart transplantation. RESULTS: A total of 154 patients (mean [SD] age, 57 [13.7] years; 31% female) who had undergone coronary angiography between 1995 and 2020 were included in the study. Coronary angiography disclosed CAD in 53 of 154 patients. Patients with CAD were older (mean [SD] age of, 64.2 [12.9] years vs 52.7 [12.4] years; P < .001); more frequently had angina pectoris (P = .05), diabetes (P = .002), and hypertension (P = .03); and more frequently had 3 or more electrocardiographic abnormalities (P = .04) than patients without CAD. During a median (IQR) follow-up period of 6.48 (2.44-11.20) years, 39% of patients reached an end point (death, n = 56; heart transplantation, n = 4). Mortality was 4.5% per year, and the rate of death or heart transplantation did not differ between patients with and without CAD (P = .26). Patients with 3-vessel disease had a worse prognosis than patients with 1- or 2-vessel disease (P = .046). CONCLUSION: In patients with LVHT, CAD does not appear to be associated with an increased rate of death or heart transplantation.

Advances and challenges in the diagnosis and management of left ventricular noncompaction in adults: A literature review.

In the realm of cardiovascular health, isolated left ventricular noncompaction (LVNC) stands out for its distinct morphological features and the clinical challenges it presents, particularly in adults. This literature review explores the intricacies of LVNC, aiming to unravel its epidemiological spread, diagnostic hurdles, and therapeutic strategies. Despite technological advancements in cardiac imaging that have improved the recognition of LVNC, a significant gap persists alongside a fragmented understanding of its pathogenesis. The studies scrutinized reveal a broad spectrum of prevalence rates influenced by diverse diagnostic tools and demographic variables. This variation underscores the complexity of accurately identifying LVNC and the resultant implications for clinical management. The review succinctly addresses the need for precise guidelines to navigate the diagnosis of LVNC and outlines the imperative for tailored clinical management approaches that cater to the wide array of patient presentations, from asymptomatic cases to those with severe cardiac dysfunction. By highlighting the critical gaps in current literature-namely the absence of standardized diagnostic criteria and a comprehensive pathogenic model-the review sets the stage for future research directions. These endeavors are essential for enhancing diagnostic accuracy, refining management protocols, and ultimately improving patient outcomes in this complex subset of cardiomyopathy, thus contributing significantly to the advancement of cardiovascular medicine.

A review regarding the article 'Advances and Challenges in the Diagnosis and Management of Left Ventricular Noncompaction in Adults.'

Left ventricular noncompaction (LVNC) is a rare genetic and congenital disorder characterized by the excessive formation of blood-filled trabeculae and intertrabecular recesses in the uncompressed inner endocardial wall associated with a thin, compact wall, the mesocardium. Although LVNC was described for the first time as long ago as 1984, our understanding of the disease with regard to its genetic pattern, diagnosis, clinical presentation, and treatment is still scanty. LVNC can be present as an isolated condition or associated with congenital heart disease, genetic syndromes, or neuromuscular disease. This suggests that LVNC is not a distinct form of cardiomyopathy, but rather a morphological expression of different diseases. Recognition of the disease is of fundamental importance because its clinical manifestations are variable, ranging from the absence of any symptom to congestive heart failure, lethal arrhythmias, and thromboembolic events. The main cardiac symptoms associated with LVNC are related to HF, occurring in up to half of the patients. Atrial fibrillation can affect 25 % of adult patients and ventricular tachyarrhythmias up to around 50 %. There is a possible association between bradycardia and Wolff-Parkinson-White syndrome in pediatric patients with LVNC. Other frequent manifestations are related to thromboembolic events, such as stroke, pulmonary embolism, and mesenteric ischemia. In asymptomatic patients, LVNC is identified by echocardiography or when the patient is subjected to family screening. However, when the disease is identified during the fetal period, the presence of systemic diseases, such as mitochondrial alterations and metabolic disorders, is frequently reported.

Electrophysiological phenotyping of left ventricular noncompaction cardiomyopathy in pediatric populations: A systematic review.

Left ventricular noncompaction cardiomyopathy (LVNC) is a structural heart defect that has been associated with generation of arrhythmias in the population and is a cause of sudden cardiac death with severe systolic dysfunction and fatal arrhythmias. LVNC has gained increasing acknowledgment with increased prevalence. We conducted a systematic review of reported electrocardiogram (ECG) results for pediatric LVNC patients. EMBASE database query was performed, yielding 4531 articles related to LVNC between 1990 and December 2023. Patient age ranged from prenatal to 18 years of age. Qualitative analyses were performed to characterize individual arrhythmias, and summative interpretation of ECG evaluations was gathered for the entire cohort. Systematic review of 57 LVNC cases and ECG presentation revealed many waveform consistencies, including abnormal left ventricular, atrioventricular node, and interventricular septal patterns, and specifically a high incidence of Mobitz type II and Wolff-Parkinson-White waveforms. This review of ECG analysis reinforces the clinical and etiologic significance of pediatric LVNC. While LVNC in pediatric populations may not always present as acute clinical cases, further investigation into the electrophysiology of the disease supports the need for further evaluation and risk stratification for patients with suspected LVNC and/or ventricular arrhythmia.

Isolated Left Ventricular Apical Hypoplasia without Lamin A/C Gene Mutation

Abstract Isolated left ventricular apical hypoplasia is a rare cardiomyopathy, with a broad range of clinical presentations. Since this entity was already described in association with osteomuscular diseases, mutation in the Lamin A/C gene has been regarded as a possible cause of this disease. This study describes the case of an asymptomatic teenager with isolated left ventricular apical hypoplasia and arthrogriposis but with no mutations in the entire Lamin A/C gene.

Hypertrabeculation; a phenotype with Heterogeneous etiology.

Left ventricular hypertrabeculation (LVHT) is a phenotype with multiple etiologies and variable clinical presentation and significance. It is characterized by a 2-layer myocardium with an enlarged trabecular layer and a thinner compacted layer. The prevalence has been increasing due to advances in cardiac imaging. Initial attention was focused on the congenital noncompaction syndrome, and the presence of LVHT was always attributed to this etiology. However, due to the lack of consensus diagnostic criteria, LVHT has now been reported in a broad spectrum of cardiomyopathies, congenital heart diseases, monogenetic disorders, neuromuscular diseases, and even healthy individuals. LVHT is often associated with systolic dysfunction, arrhythmias, and thromboembolic events. Given the etiologic heterogeneity, the prognosis and outcomes are primarily determined by comorbidities, and treatment is dictated by known guidelines. We present hypertrabeculation (HT) as a phenotype and discuss the varied landscape in the classification, etiology, diagnosis, and management of the condition.

Novel Approach to Risk Stratification in Left Ventricular Non-Compaction Using A Combined Cardiac Imaging and Plasma Biomarker Approach.

Background Left ventricular non-compaction remains a poorly described entity, which has led to challenges of overdiagnosis. We aimed to evaluate if the presence of a thin compacted myocardial layer portends poorer outcomes in individuals meeting cardiac magnetic resonance criteria for left ventricular non-compaction . Methods and Results This was an observational, retrospective cohort study involving individuals selected from the Cleveland Clinic Foundation cardiac magnetic resonance database (N=26 531). Between 2000 and 2018, 328 individuals ≥12 years, with left ventricular non-compaction or excessive trabeculations based on the cardiac magnetic resonance Petersen criteria were included. The cohort comprised 42% women, mean age 43 years. We assessed the predictive ability of myocardial thinning for the primary composite end point of major adverse cardiac events (composite of all-cause mortality, heart failure hospitalization, left ventricular assist device implantation/heart transplant, ventricular tachycardia, or ischemic stroke). At mean follow-up of 3.1 years, major adverse cardiac events occurred in 102 (31%) patients. After adjusting for comorbidities, the risk of major adverse cardiac events was nearly doubled in the presence of significant compacted myocardial thinning (hazard ratio [HR], 1.88 [95% CI, 1.18‒3.00]; P=0.016), tripled in the presence of elevated plasma B-type natriuretic peptide (HR, 3.29 [95% CI, 1.52‒7.11]; P=0.006), and increased by 5% for every 10-unit increase in left ventricular end-systolic volume (HR, 1.01 [95% CI, 1.00‒1.01]; P=0.041). Conclusions The risk of adverse clinical events is increased in the presence of significant compacted myocardial thinning, an elevated B-type natriuretic peptide or increased left ventricular dimensions. The combination of these markers may enhance risk assessment to minimize left ventricular non-compaction overdiagnosis whilst facilitating appropriate diagnoses in those with true disease.

The mitral regurgitation effects of cardiac structure and function in left ventricular noncompaction.

This study evaluated the effects of mitral regurgitation (MR) on cardiac structure and function in left ventricular noncompaction (LVNC) patients. The clinical and cardiovascular magnetic resonance (CMR) data for 182 patients with noncompaction or hypertrabeculation from three institutes were retrospectively included. We analyzed the difference in left ventricular geometry, cardiac function between LVNC patients with and without MR. The results showed that patients with MR had a worse New York Heart Association (NYHA) class and a higher incidence of arrhythmia (P < 0.05). MR occurred in 48.2% of LVNC patients. Compared to LVNC patients without MR, the two-dimensional sphericity index, maximum/minimum end-diastolic ratio and longitudinal shortening in LVNC patients with MR were lower (P < 0.05), and the peak longitudinal strain (PLS) of the global and segmental myocardium were obviously reduced (P < 0.05). No significant difference was found in strain in LVNC patients with different degree of MR; end diastolic volume, end systolic volume, and global PLS were statistically associated with MR and NYHA class (P < 0.05), but the non-compacted to compacted myocardium ratio had no significant correlation with them. In conclusion, the presence of MR is common in LVNC patients. LVNC patients with MR feature more severe morphological and functional changes. Hypertrabeculation is not an important factor affecting structure and function at the heart failure stage.

Speckle tracking echocardiography and left ventricular twist mechanics: predictive capabilities for noncompaction cardiomyopathy in the first degree relatives.

In non-compaction cardiomyopathy (NCCM), there are several echocardiographic and cardiac magnetic resonance (CMR)-based quantitative diagnostic indices, current criteria mainly placed on morphological features, and none of the diagnostic indices includes left ventricular (LV) function. LV function and hemodynamics could be normal in NCCM patients. Evaluation of left ventricular function at the subclinical stage, strain echocardiographic parameters could be used alternative to standard echocardiographic examinations. The aim of this study to evaluate; NCCM patients, their first-degree relatives, ventricular motion patterns, strain characteristics, and the predictive capabilities of these features for early diagnosis of cardiomyopathy. This cross-sectional, case-control study included 32 NCCM patients, 30 first-degree relatives (father, mother, siblings and children) and 31 healthy volunteers. All patients evaluated with baseline echocardiography, strain measurements, and ventricular wall motion pattern. There were no differences between the groups in terms of age, weight, and body surface area. We observed a statistically significant decrease in ejection fraction (EF), fractional shortening (FS), E/E' and global strain values in patients' relatives compared to healthy volunteers (Patients' relatives: LVEF:60.9 ± 7.2%, FS:0.34 ± 0.07, E/E':7.51 ± 1.83, GLS: - 18.6 ± 3.6, GLSr: - 1.1 ± 0.1, GCS: - 17.1 ± 3.1, GCSr: - 1.2 ± 0.1, GRS:37.1 ± 6.2, GRSr:1.7 ± 0.1; all p values< 0.05). 'Rigid Body Rotation (RBR)' movement pattern was also observed in some of the patient's relative's like in the patients. RBR movement pattern determined patients; EF, longitudinal strain-strain rate, and basal layer rotation values were significantly lower, but radial strain values were higher with the RBR movement pattern (for all values p < 0.05). RBR movement pattern, deterioration of strain parameters, and accompanying echocardiographic features like LVEF, fractional shortening (FS), E/E' in patients' relative groups may contribute to reveal the subclinical status of disease and could be predictive for early diagnosis of cardiomyopathy.

Clinical outcomes in patients with left ventricle trabeculation or noncompaction.

Trabeculation exhibits highly varied presentations, whereas noncompaction (NC) is a specific disease entity based arithmetically on wall thickness. We aimed to evaluate the clinical implications of trabeculation and its relevance to outcomes. A total of 296 patients (age 63 ± 12 years; 64% men) with trabeculation who underwent echocardiography were retrospectively identified between January 2011 and December 2012. Analyses were conducted on distinguished trabeculation which was divided into NC (maximum noncompacted/compacted ratio ≥ 2.0) or hypertrabeculation (HT) (ratio < 2.0). We evaluated features of trabeculation and explored cardiovascular (CV) outcome events (coronary revascularization, hospitalization for worsening heart failure (HF), stroke, nonsustained ventricular tachycardia (VT), implantation of an implantable cardioverter defibrillator (ICD), and CV death). Over a mean of 4.2 years, CV outcome events occurred in 122 (41%) patients who were older and exhibited an increased frequency of diabetes mellitus, stroke, implantation of ICD, HF and dilated cardiomyopathy. The frequencies of NC or HT, the trabeculation ratio and its manifestation were similar among patients with and without events. NC/HT with concomitant apical hypocontractility and worsening systolic function were univariable predictors of adverse events. On multivariable analysis, concomitant apical hypocontractility on NC/HT remained significant (hazard ratio 8.94, 95% confidence interval 2.9-27.2, p < 0.001) together with old age, HF and increased E/e' ratio. NC/HT with concomitant apical hypocontractility provided clues about the current medical illness and aided in risk stratification.

Miocardiopatia não compactada em crianças e adolescentes: do desafio do diagnóstico ecocardiográfico ao acompanhamento clínico / Non-compacted cardiomyopathy in children and adolescents: from the challenge of echocardiographic diagnosis to clinical follow-up

Fundamentos: Miocardiopatia não compactada (MCNC) caracteriza-se por hipertrabeculações e recessos profundos no ventrículo esquerdo, com apresentação clínica heterogênea, desde pacientes assintomáticos a insuficiência cardíaca (IC), eventos tromboembólicos arritmias com risco de morte súbita. Por ser rara e não apresentar critérios diagnósticos bem definidos, sua história natural na pediatria é pouco conhecida. Este estudo descreve a apresentação e evolução clínica de pacientes portadores de MCNC. Metodologia: Estudo observacional, longitudinal, prospectivo, de pacientes pediátricos atendidos em um centro de referência em cardiologia pediátrica provenientes da região metropolitana II do Estado do Rio de Janeiro, com fenótipo de MCNC ao ecocardiograma (ECO) no período de 2 anos de acompanhamento, provenientes do Registro ChARisMa. Resultados: Analisados seis pacientes com MCNC, de 4 a 14 anos de idade, média de idade de 7,5 anos (DP: 3,93), 3 do sexo masculino (50%). Apresentando-se com IC (n=2), sopro cardíaco (n=1), arritmia cardíaca (n=1), assintomático (n=1) ou em investigação de síndrome genética (n=1). Fenótipos ao ECO: MCNC/Miocardiopatia dilatada (n=1) e MCNC/Miocardiopatia restritiva (n=1), fenótipo isolado de MCNC (n=4). A ressonância magnética cardíaca foi realizada, confirmando o diagnóstico (n=4). Os desfechos observados foram tromboembolismo, indicação de transplante cardíaco e taquicardia ventricular sustentada. Conclusões: Esta série de casos proporciona dados relevantes da MCNC pediátrica, mostrando a heterogeneidade da apresentação clínica, bem como a ocorrência de complicações potencialmente fatais. São necessários mais estudos prospectivos para que seu diagnóstico seja corretamente realizado e sua evolução clínica, resposta terapêutica e prognóstico sejam mais bem conhecidos. (AU)

Background: Non-compacted cardiomyopathy (NCCM) is characterized by hypertrabeculations and deep recesses in the left ventricle, with a heterogeneous clinical presentation, ranging from asymptomatic patients to those with heart failure (HF), thromboembolic events and arrhythmias with risk of sudden death. As it is rare and does not have well-defined diagnostic criteria, its natural history in pediatrics is poorly understood. This study describes the clinical presentation and clinical course of patients with NCCM. Methodology: Observational, longitudinal, prospective study of pediatric patients seen at a pediatric cardiology referral center from metropolitan region II in the state of Rio de Janeiro, with NCCM phenotype on echocardiogram (ECHO) during a 2-year follow-up, from the ChARisMa registry. Results: 6 patients aged 4 to 14, with NCCM, were analyzed. Mean age 7.5 years (SD: 3.93), 3 males (50%). The patients presented HF (n=2), cardiac murmur (n=1), cardiac arrhythmia (n=1), were asymptomatic (n=1) or were under investigation for a genetic syndrome (n=1). Phenotypes on ECHO: NCCM/dilated cardiomyopathy (n=1) and NCCM/restrictive cardiomyopathy (n=1), isolated phenotype of NCCM (n=4). Cardiac magnetic resonance imaging was performed and confirmed the diagnosis (n=4). The outcomes observed were thromboembolism, indication for heart transplantation, and sustained ventricular tachycardia. Conclusions:This case series provides relevant data for pediatric NCCM as it shows its heterogeneous clinical presentation and potentially fatal complications. More prospective studies are needed for an accurate diagnosis and to allow its clinical course, therapeutic response and prognosis to be better known. (AU)

Association Between Left Ventricular Noncompaction and Vigorous Physical Activity.

BACKGROUND: Left ventricular (LV) hypertrabeculation fulfilling noncompaction cardiomyopathy criteria has been detected in athletes. However, the association between LV noncompaction (LVNC) phenotype and vigorous physical activity (VPA) in the general population is disputed. OBJECTIVES: The aim of this study was to assess the relationship between LVNC phenotype on cardiac magnetic resonance (CMR) imaging and accelerometer-measured physical activity (PA) in a cohort of middle-aged nonathlete participants in the PESA (Progression of Early Subclinical Atherosclerosis) study. METHODS: In PESA participants (n = 4,184 subjects free of cardiovascular disease), PA was measured by waist-secured accelerometers. CMR was performed in 705 subjects (mean age 48 ± 4 years, 16% women). VPA was recorded as total minutes per week. The study population was divided into 6 groups: no VPA and 5 sex-specific quintiles of VPA rate (Q1 to Q5). The Petersen criterion for LVNC was evaluated in all subjects undergoing CMR. For participants meeting this criterion (noncompacted-to-compacted ratio ≥2.3), 3 more restrictive LVNC criteria were also evaluated (Jacquier, Grothoff, and Stacey). RESULTS: LVNC phenotype prevalence according to the Petersen criterion was significantly higher among participants in the highest VPA quintile (Q5 = 30.5%) than in participants with no VPA (14.2%). The Jacquier and Grothoff criteria were also more frequently fulfilled in participants in the highest VPA quintile (Jacquier Q5 = 27.4% vs. no VPA = 12.8% and Grothoff Q5 = 15.8% vs. no VPA = 7.1%). The prevalence of the systolic Stacey LVNC criterion was low (3.6%) and did not differ significantly between no VPA and Q5. CONCLUSIONS: In a community-based study, VPA was associated with a higher prevalence of CMR-detected LVNC phenotype according to diverse established criteria. The association between VPA and LVNC phenotype was independent of LV volumes. According to these data, vigorous recreational PA should be considered as a possible but not uncommon determinant of LV hypertrabeculation in asymptomatic subjects.

Quantification of myocardial strain in patients with isolated left ventricular non-compaction and healthy subjects using deformable registration algorithm: comparison with feature tracking.

BACKGROUND: Systolic dysfunction of the left ventricle is frequently associated with isolated left ventricular non-compaction (iLVNC). Clinically, the ejection fraction (EF) is the primary index of cardiac function. However, changes of EF usually occur later in the disease course. Feature tracking (FT) and deformable registration algorithm (DRA) have become appealing techniques for myocardial strain assessment. METHODS: Thirty patients with iLVNC (36.7 ± 13.3 years old) and fifty healthy volunteers (42.3 ± 13.6 years old) underwent cardiovascular magnetic resonance (CMR) examination on a 1.5 T MR scanner. Strain values in the radial, circumferential, longitudinal directions were analyzed based on the short-axis and long-axis cine images using FT and DRA methods. The iLVNC patients were further divided based on the ejection fraction, into EF ≥ 50% group (n = 11) and EF < 50% group (n = 19). Receiver-operating-characteristic (ROC) analysis was performed to assess the diagnostic performance of the global strain values. Intraclass correlation coefficient (ICC) analysis was used to evaluate the intra- and inter-observer agreement. RESULTS: Global radial strain (GRS) was statistically lower in EF ≥ 50% group compared with control group [GRS (DRA)/% vs. controls: 34.6 ± 7.0 vs. 37.6 ± 7.2, P < 0.001; GRS (FT)/% vs. controls: 37.4 ± 13.2 vs. 56.9 ± 16.4, P < 0.01]. ROC analysis of global strain values derived from DRA and FT demonstrated high area under curve (range, 0.743-0.854). DRA showed excellent intra- and inter-observer agreement of global strain in both iLVNC patients (ICC: 0.995-0.999) and normal controls (ICC: 0.934-0.996). While for FT analysis, global radial strain of normal controls showed moderate intra-observer (ICC: 0.509) and poor inter-observer agreement (ICC: 0.394). CONCLUSIONS: In patients with iLVNC, DRA can be used to quantitatively analyze the strain of left ventricle, with global radial strain being an earlier marker of LV systolic dysfunction. DRA has better reproducibility in evaluating both the global and segmental strain.

Ventricular tachycardia triggered by pregnancy in left-ventricular non-compaction cardiomyopathy: a controversial indication to automated defibrillator implantation.

Left-ventricular non-compaction (LVNC) is a rare form of cardiomyopathy. Its clinical presentation is highly variable and during pregnancy is frequently associated with heart failure, embolic events, and arrhythmias. Herein we report a case of a woman with left ventricular non-compaction who had an automated defibrillator implantation for recurrent ventricular arrhythmias during pregnancy. During pregnancy and at long-term follow-up no interventions of the device were documented. In conclusion, the management of malignant arrhythmias during pregnancy is one of the concerns for patients with LVNC and requires a careful approach in third-level centers.

Effect of Noncompacted Myocardial Resection on Isolated Left Ventricular Noncompaction.

Isolated left ventricular noncompaction, where broad trabeculae and deep intertrabecular recesses are observed in the left ventricular myocardium resulting from an arrest in normal embryogenesis, is a rare cardiomyopathy. We present a report on isolated trabeculectomy and postoperative echocardiographic follow-up showing recovery of cardiac function for isolated left ventricular noncompaction.

Cardiovascular Magnetic Resonance and Sport Cardiology: a Growing Role in Clinical Dilemmas.

Exercise training induces morphological and functional cardiovascular adaptation known as the "athlete's heart" with changes including dilatation, hypertrophy, and increased stroke volume. These changes may overlap with pathological appearances. Distinguishing athletic cardiac remodelling from cardiomyopathy is important and is a frequent medical dilemma. Cardiac magnetic resonance (CMR) has a role in clinical care as it can refine discrimination of health from a disease where ECG and echocardiography alone have left or generated uncertainty. CMR can more precisely assess cardiac structure and function as well as characterise the myocardium detecting key changes including myocardial scar and diffuse fibrosis. In this review, we will review the role of CMR in sports cardiology.

Differentiating Athlete's Heart from Left Ventricle Cardiomyopathies.

Imaging techniques have allowed knowing the structural adaptative changes observed in the hearts of highly trained athletes. Athletes can develop very marked structural changes and the need may rise for a differential diagnosis with real cardiomyopathy. In this chapter, authors review the physiologic and morphologic features associated with athletic training and the keys to differentiate normal adaptive athlete's heart from mild or initial expression forms of left-heart side cardiomyopathies such as hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and left ventricle non-compaction (LVNC).