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Left ventricular non-compaction cardiomyopathy (LVNC) is an unusual congenital heart disease that predominantly affects the heart's left ventricle. This disease is characterized by deep intertrabecular recesses and hypertrabeculations of the myocardial wall that link with the ventricle cavity. During embryogenesis, the fetal myocardium has to undergo a compaction process, wherein the trabeculated and spongy myocardial tissue compacts into a dense, solid form. An incomplete compaction process results in persistent non-compacted spongy myocardial tissue and trabeculations prominent in the left ventricle. This disease could be marked alone or be present in coexistence with other congenital heart abnormalities. We present a rare case of a 57-year-old Saudi male who presented to the ER with chest pain and dyspnea. Due to severe chest pain, he was admitted to the coronary care unit. On further investigation, an echocardiogram revealed heavy trabeculations in the dilated left ventricle and a reduced ejection fraction. The case was diagnosed as LVNC and possible heart failure. The patient was discharged after he was kept under guideline-directed medical therapy (GDMT) along with certain medications and will be evaluated after six months of GDMT to decide on implantable cardiac resynchronization therapy. Although LVNC is rare, it can lead to severe heart conditions like arrhythmias, thromboembolism, and heart failure.

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Highlights of right ventricular characteristics of left ventricular noncompaction using 3D echocardiography. The aspects of right ventricular volumes and function investigated with 3D echocardiography in a large cohort of left ventricular noncompaction morphology (LVNC) population remains unclear. The objective of our research was to study the left (LV) and right (RV) ventricular parameters using 3D echocardiography and analyze the clinical features of a LVNC population with preserved LV ejection fraction (EF > 50 %) in comparison with healthy controls (HC). We selected 41 LVNC subjects with preserved LV function (EF: 52.91 ± 3 %, male n = 26) and without any comorbidities and compared them with an age and sex-matched HC. Three dimensional endocardial contours were evaluated to determine the following LV and RV parameters: end-diastolic (EDV) and end-systolic (ESV) volumes, stroke volume, EF, LV global longitudinal and circumferential strain and RV septal and free wall longitudinal strain. Regarding the clinical characteristics, the family involvement had a notable proportion, accounting for 51%. The EF and strain values of the LVNC population were significantly decreased in both RV and LV compared to HC. Although the LV volumes of the LVNC group were significantly elevated, the RV volumetric parameters did not differ significantly compared to controls. We found significant correlations between LV and RV volumetric and functional parameters and linear regression models showed that LV EDV and LV ESV determined the RV volumetric values. While the alteration and relationship of the RV parameters may represent the potential of biventricular involvement, clinical characteristics of the LVNC group underlines the necessity of monitoring this population, even with preserved EF.

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Left ventricular noncompaction (LVNC) is a rare congenital condition defined by the presence of prominent trabeculations in the myocardial layer of the left ventricle. The clinical presentation is varied as some patients are asymptomatic and others have symptoms of decompensated heart failure, arrhythmias, or thromboembolism. We present the case of a 42-year-old female with a past medical history of asthma and substance use disorder who presented to the Emergency Department following a syncopal event. The patient had used heroin intranasally, following which she became unresponsive for several minutes. Her husband witnessed the event and initiated chest compressions. When examined by emergency medical services (EMS), she had a palpable pulse and was given naloxone. The patient underwent further evaluation and was admitted for the treatment of aspiration pneumonia. Throughout her hospital stay, she complained of chest pain with musculoskeletal characteristics, likely secondary to chest compressions. However, due to the persistence of pain, she had further cardiac evaluation done. Her electrocardiography (EKG) revealed a normal sinus rhythm with no acute ischemic changes. Her echocardiography revealed left ventricular apical trabeculations with normal systolic and diastolic function, in line with the diagnosis of LVNC. Upon discharge, she was extensively counseled to abstain from substance use and to follow up with cardiology for a cardiac event monitor. Given her initial syncopal event and high-risk substance use behavior, she would benefit from close follow-up for the presence of arrhythmias.

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Isolated left ventricular noncompaction cardiomyopathy (LVNC), also known as spongy myocardium, is an extremely rare congenital disorder belonging to unclassified cardiomyopathies by the World Health Organization and classified as a genetic cardiomyopathy by the American Heart Association. Adult prevalence is 0.017-0.26% in observational echocardiographic studies. The disease occurs due to the intrauterine arrest of normal myocardial compaction, leading to left ventricular dysfunction. Reported mortality is high, ranging from 35 to 47% over a 42- to 72-month follow-up period. Knowledge regarding proper diagnosis, morbidity, and prognosis is limited; thus, this disease is subdiagnosed. Our aim is to highlight a diagnostic approach to LVNC in an elderly patient and to stress specific diagnostic signs that make the disease more recognizable. We are reporting a case of noncompaction cardiomyopathy in a 62-year-old male without any significant past medical history who was referred to our clinic for arrhythmia evaluation. The patient had several brief episodes of palpitations over the past two months. On physical examination, he presented a blowing systolic murmur at the apex and an irregularly irregular rhythm. The 12-lead electrocardiogram (ECG) demonstrated atrial fibrillation and ST-T segment depression in the V4-V6 leads. A transthoracic echocardiogram (TTE) showed signs of dilated cardiomyopathy, severe eccentric left ventricular hypertrophy, decreased contractility with an ejection fraction (EF) <30%, moderate mitral and tricuspid regurgitations, and moderate pulmonary hypertension. Multiple prominent trabeculations were noticed in the middle and apical segments of the left ventricle. The noncompacted to compacted myocardium ratio was >2.5:1. Cardiac catheterization excluded ischemic heart disease. Cardiac magnetic resonance (CMR) imaging confirmed the diagnosis of LVNC. The patient started treatment with carvedilol, ramipril, verospiron, torasemide, and rivaroxaban. An implantable cardioverter-defibrillator (ICD) was recommended. In conclusion, the diagnosis of LVNC in the adult population is often delayed because of similarities with more frequently diagnosed diseases. TTE is the initial diagnostic test of choice. Additional imaging modalities (contrast echocardiography, CMR) can help confirm the diagnosis. Early diagnosis is crucial because of the high incidence of life-threatening complications related to heart failure, thromboembolic events, and ventricular arrhythmias. Additional prospective studies are needed to improve the management and outcomes of this rare cardiomyopathy.

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Background: Left ventricular noncompaction (LVNC) cardiomyopathy is a disorder that can be complicated by heart failure, arrhythmias, thromboembolism, and sudden cardiac death. The aim of this study is to clarify the genetic landscape of LVNC in a large cohort of well-phenotyped Russian patients with LVNC, including 48 families (n=214). Methods: All index patients underwent clinical examination and genetic analysis, as well as family members who agreed to participate in the clinical study and/or in the genetic testing. The genetic testing included next generation sequencing and genetic classification according to ACMG guidelines. Results: A total of 55 alleles of 54 pathogenic and likely pathogenic variants in 24 genes were identified, with the largest number in the MYH7 and TTN genes. A significant proportion of variants -8 of 54 (14.8%) -have not been described earlier in other populations and may be specific to LVNC patients in Russia. In LVNC patients, the presence of each subsequent variant is associated with increased odds of having more severe LVNC subtypes than isolated LVNC with preserved ejection fraction. The corresponding odds ratio is 2.77 (1.37 -7.37; p <0.001) per variant after adjustment for sex, age, and family. Conclusion: Overall, the genetic analysis of LVNC patients, accompanied by cardiomyopathy-related family history analysis, resulted in a high diagnostic yield of 89.6%. These results suggest that genetic screening should be applied to the diagnosis and prognosis of LVNC patients.

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BACKGROUND: Implantable cardioverter-defibrillators (ICDs) are frequently used for primary and secondary prevention in patients with cardiomyopathies due to different etiologies. However, long-term outcome studies in patients with noncompaction cardiomyopathy (NCCM) are scarce. OBJECTIVES: This study summarizes the long-term outcome of ICD therapy in patients with NCCM compared with those with dilated cardiomyopathy (DCM) or hypertrophic cardiomyopathy (HCM). METHODS: Prospective data from our single-center ICD registry were used to analyze the ICD interventions and survival in patients with NCCM (n = 68) compared with patients with DCM (n = 458) and patients with HCM (n = 158) from January 2005 to January 2018. RESULTS: This NCCM population with an ICD for primary prevention comprised 56 (82%) patients with a median age of 43 years and 52% males, compared with 85% in patients with DCM and 79% in patients with HCM (P = 0.20). During a median follow-up of 5 years (IQR: 2.0-6.9 years), appropriate and inappropriate ICD interventions were not significantly different. Nonsustained ventricular tachycardia during Holter monitoring in patients with NCCM was the only significant risk factor for appropriate ICD therapy in patients with NCCM, with a HR of 5.29 (95% CI: 1.12-24.96). The long-term survival was significantly better in the univariable analysis in the NCCM group. However, there was no difference in multivariable Cox regression analyses between the cardiomyopathy groups. CONCLUSIONS: At 5 years of follow-up, the rate of appropriate and inappropriate ICD interventions in NCCM was comparable to that in DCM or HCM. In multivariable analysis, no differences in survival were found between the cardiomyopathy groups.

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Ascending aortic (AoAsc) dilatation can lead to acute aortic syndromes and has been described in various familial cardiac diseases. Its prevalence and clinical significance in patients with noncompaction cardiomyopathy (NCCM) are however unknown. Establishing the prevalence can facilitate recommendations on routine screening in NCCM. In this cross-sectional cohort study based on the Rijnmond Heart Failure/Cardiomyopathy Registry, the patient were enrolment between 2014 and 2021. All NCCM patients (n = 109) were age and sex matched with 109 dilated cardiomyopathy (DCM) patients as controls. The aortic diameters were measured through the parasternal long-axis transthoracic echocardiographic view at the sinuses of valsalva (SoV-Ao), sinotubular junction (STJ) and ascending aorta (AscAo). Dilatation was defined using published criteria adjusted for body surface area (BSA), sex, and age. Median age of age-sex matched NCCM and DCM patients was 45[31-56] vs. 45 [31-55] years with 53% males in both groups. NCCM patients had more familial hereditary patterns and genetic variants (55% vs. 24%, p < 0.001). DCM patients had more heart failure and left ventricular dysfunction (ejection fraction 34 ± 11 vs. 41 ± 12, p = 0.001). Ascending aortic dilatation was present in 8(7%) patients with NCCM and 5(5%) patients with DCM (p = 0.46). All dilatations were classified as mild. In conclusion, in this cross-sectional cohort study the prevalence of ascending aortic dilatation in NCCM patients was 7%, which were only mild dilatations and not significantly different from an age-sex matched cohort of DCM patients. Routine aortic dilatation screening therefore does not seem warranted in patients with NCCM.

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A subgroup of patients with noncompaction cardiomyopathy (NCCM) is at increased risk of ventricular arrhythmias and sudden cardiac death (SCD). In selected patients with NCCM, implantable cardioverter-defibrillator (ICD) therapy could be advantageous for preventing SCD. Currently, there is no complete overview of outcome and complications after ICD therapy in patients with NCCM. This study sought to present an overview using pooled data of currently available studies. Embase, MEDLINE, Web of Science, and Cochrane databases were searched and returned 915 studies. After a thorough examination, 12 studies on outcome and complications after ICD therapy in patients with NCCM were included. There were 275 patients (mean age 38.6 years; 47% women) with NCCM and ICD implantation. Most of the patients received an ICD for primary prevention (66%). Pooled analysis demonstrates that the appropriate ICD intervention rate was 11.95 per 100 person-years and the inappropriate ICD intervention rate was 4.8 per 100 person-years. The cardiac mortality rate was 2.37 per 100 person-years. ICD-related complications occurred in 10% of the patients, including lead malfunction and revision (4%), lead displacement (3%), infection (2%), and pneumothorax (2%). Patients with NCCM who are at increased risk of SCD may significantly benefit from ICD therapy, with a high appropriate ICD therapy rate of 11.95 per 100 person-years and a low cardiac mortality rate of 2.37 per 100 person-years. Inappropriate therapy rate of 4.8 per 100 person-years and ICD-related complications were not infrequent and may lead to patient morbidity.

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Transient loss of consciousness (TLOC) is a common presentation to emergency departments and may be due to syncope or epileptic seizures. The distinction between both entities can be challenging. This case illustrates the need for a multidisciplinary team approach in TLOC to avoid misdiagnosis leading to improper treatment.

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Chromosome 1p36 deletion syndrome is a common genetic anomaly (prevalence: 1 in 5,000-1 in 10,000). Despite reports of cardiovascular involvement, the cardiovascular phenotypic spectrum of patients with 1p36 deletion syndrome is not well characterized. In this article, we reported the clinical course of a full-term African American boy with chromosome 1p36 deletion syndrome and neonatal onset of severe cardiac disease with moderate-to-severe biventricular dysfunction and severe pulmonary hypertension. Early neonatal onset presentation of 1p36 deletion syndrome is rare and might be associated with a more guarded prognosis. This case based study is supplemented by a comprehensive review of cardiovascular involvement in this relatively common genetic syndrome.

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Noncompaction cardiomyopathy (NCC) is congenital cardiomyopathy characterized by trabeculations of the left ventricle found on echocardiogram and/or cardiac magnetic resonance imaging (CMRI). This rare disease is associated with thromboembolism and an increased risk of ventricular thrombus formation. We present the case of a 73-year-old female who was admitted for a suspected cerebrovascular accident (CVA), later found on echocardiogram and CMRI to have NCC with left ventricular thrombus. She was started on warfarin indefinitely. We highlight the rarity of this phenomenon as well as the unique questions regarding initiation, length, and choice of therapeutic anticoagulation in the absence of atrial fibrillation in these patients. Consideration of this diagnosis should be made in the absence of other cardioembolic etiologies with prompt management based on available guidelines.

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Coexistence of coronary artery-to-left ventricle fistula (CALVF) and noncompaction cardiomyopathy (NCC) is rare in patients with severe multiple coronary stenosis. We report CALVF in a 70-year-old man with acute coronary syndrome (ACS) and NCC. Left ventricular ejection fraction may not improve by total revascularization in this condition. (Level of Difficulty: Advanced.).

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Introducción: la miocardiopatía no compactada (MCNC) es una miocardiopatía no clasificada por la Organización Mundial de la Salud. Se describe como una enfermedad congénita muy rara, donde se observan trabeculaciones endomiocárdicas que aumentan en número y prominencia. Esta miocardiopatía conlleva un alto riesgo de arritmias malignas, fenómeno tromboembólico y disfunción ventricular izquierda. Objetivo: reportar el caso de una mujer de 34 años, diagnosticada previamente con obesidad mórbida, que acudió a consulta externa para una evaluación cardiovascular prequirúrgica. El electrocardiograma mostró el ventrículo izquierdo (VI) ligeramente dilatado y llamativa trabeculación del mismo. Resultados: se confirma el diagnóstico de MCNC a través de una imagen de resonancia magnética. Se autoriza su cirugía y se recomiendan cambios en su estilo de vida y cambio de medicación para riesgos de fallo cardíaco. En el último ecocardiograma, los diámetros del VI muestran mejoría con respecto al primero. Conclusiones: la presencia de trabeculaciones en el VI debe considerarse un dato clínico de sospecha de MCNC. Se deben realizar más investigaciones sobre las causas de esta miocardiopatía no clasificada para desarrollar mejores formas terapéuticas, sin embargo, ha sido probada la eficacia de los bloqueadores de los receptores de la angiotensina II en el manejo farmacoterapéutico de esta condición

Introduction: Left ventricular non-compaction cardiomyopathy (LVNC) is a cardiomyopathy not classified by the World Health Organization. It is described as a very rare congenital disease where endomyocardial trabeculations that increase in number and prominence are observed. This cardiomyopathy carries a high risk of malignant arrhythmias, thromboembolic events and left ventricular dysfunction. Objective: To report the case of a 34-year-old woman, previously diagnosed with morbid obesity, who came to the outpatient clinic for a preoperative cardiovascular evaluation. The electrocardiogram showed a slightly dilated left ventricle (LV) and striking trabeculation. Results: The diagnosis of LVNC was confirmed by magnetic resonance imaging. Surgery was authorized and lifestyle changes and change of medication for heart failure risks were recommended. On the last echocardiogram, LV diameters show improvement from the first. Conclusions: The presence of trabeculations in the LV should be considered as clinical data of suspected LVNC. Further investigations on the causes of this unclassified cardiomyopathy should be performed to develop better therapeutic ways, however, the efficacy of angiotensin II receptor blockers in the pharmacotherapeutic management of this condition has been proven

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Noncompaction cardiomyopathy is a common congenital cardiac disorder associated with abnormal ventricular cardiomyocyte trabeculation and impaired pump function. The genetic basis and underlying mechanisms of this disorder remain elusive. We show that the genetic deletion of RNA-binding protein with multiple splicing (Rbpms), an uncharacterized RNA-binding factor, causes perinatal lethality in mice due to congenital cardiovascular defects. The loss of Rbpms causes premature onset of cardiomyocyte binucleation and cell cycle arrest during development. Human iPSC-derived cardiomyocytes with RBPMS gene deletion have a similar blockade to cytokinesis. Sequencing analysis revealed that RBPMS plays a role in RNA splicing and influences RNAs involved in cytoskeletal signaling pathways. We found that RBPMS mediates the isoform switching of the heart-enriched LIM domain protein Pdlim5. The loss of Rbpms leads to an abnormal accumulation of Pdlim5-short isoforms, disrupting cardiomyocyte cytokinesis. Our findings connect premature cardiomyocyte binucleation to noncompaction cardiomyopathy and highlight the role of RBPMS in this process.

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HCN4 mutations have been reported in association with sick sinus syndrome. A more complex phenotype, including noncompaction cardiomyopathy and aortic dilatation, has recently emerged. We report 3 family members with the pathogenic p.Gly482Arg variant, emphasizing the importance of considering HCN4 mutations when this combination of features is encountered in clinical practice. (Level of Difficulty: Advanced.).

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The G-quadruplex (G4) resolvase RNA helicase associated with AU-rich element (RHAU) possesses the ability to unwind G4 structures in both DNA and RNA molecules. Previously, we revealed that RHAU plays a critical role in embryonic heart development and postnatal heart function through modulating mRNA translation and stability. However, whether RHAU functions to resolve DNA G4 in the regulation of cardiac physiology is still elusive. Here, we identified a phenotype of noncompaction cardiomyopathy in cardiomyocyte-specific Rhau deletion mice, including such symptoms as spongiform cardiomyopathy, heart dilation, and death at young ages. We also observed reduced cardiomyocyte proliferation and advanced sarcomere maturation in Rhau mutant mice. Further studies demonstrated that RHAU regulates the expression levels of several genes associated with ventricular trabeculation and compaction, including the Nkx2-5 and Hey2 that encode cardiac transcription factors of NKX2-5 and Hey2, and the myosin heavy chain 7 (Myh7) whose protein product is MYH7. While RHAU modulates Nkx2-5 mRNA and Hey2 mRNA at the post-transcriptional level, we uncovered that RHAU facilitates the transcription of Myh7 through unwinding of the G4 structures in its promoter. These findings demonstrated that RHAU regulates ventricular chamber development through both transcriptional and post-transcriptional mechanisms. These results contribute to a knowledge base that will help to understand the pathogenesis of diseases such as noncompaction cardiomyopathy.

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BACKGROUND: 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. AIM: The current study aimed to elucidate the genetic background of cardiomyopathy in Egyptian children. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

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Noncompaction cardiomyopathy (NCCM) is a disease characterized by hypertrabeculation, commonly hypothesized due to an arrest in compaction during fetal development. In 2006, NCCM was classified as a distinct form of cardiomyopathy (CMP) by the American Heart Association. NCCM in childhood is more frequently familial than when diagnosed in adulthood and is associated with other congenital heart diseases (CHDs), other genetic CMPs, and neuromuscular diseases (NMDs). It is yet a rare cardiac diseased with an estimated incidence of 0.12 per 100.000 in children up to 10 years of age. Diagnosing NCCM can be challenging due to non-uniform diagnostic criteria, unawareness, presumed other CMPs, and presence of CHD. Therefore, the incidence of NCCM in children might be an underestimation. Nonetheless, NCCM is the third most common cardiomyopathy in childhood and is associated with heart failure, arrhythmias, and/or thromboembolic events. This state-of-the-art review provides an overview on pediatric NCCM. In addition, we discuss the natural history, epidemiology, genetics, clinical presentation, outcome, and therapeutic options of NCCM in pediatric patients, including fetuses, neonates, infants, and children. Furthermore, we provide a simple classification of different forms of the disease. Finally, the differences between the pediatric population and the adult population are described.

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Noncompaction cardiomyopathy (NCCM) is a rare condition characterized by prominent trabeculae, deep intertrabecular recesses, and a left ventricular myocardium with a two-layered structure, characterized by a spongy endocardial layer and a thinner and compacted epicardial one. NCCM can be isolated or associated with other congenital heart diseases and complex syndromes involving neuromuscular disorders and facial dysmorphisms. To date, more than 40 genes coding for sarcomeric, cytoskeletal, ion channels, and desmosomal proteins have been identified. Clinical presentation is also highly variable, ranging from no symptoms to end-stage heart failure (HF), lethal arrhythmias, sudden cardiac death, or thromboembolic events. In particular, the prevalence of thromboembolism in NCCM patients appears to be higher than that of a similar, age-matched population without NCCM. Thromboembolism has a multifactorial aetiology, which is linked to genetic, as well as traditional cardiovascular risk factors. In previous studies, atrial fibrillation (AF) was observed in approximately 25-30% of adult NCCM patients and embolism had a cardiac source in ~63-69% of cases; therefore, AF represents a strong predictor of adverse events, especially if associated to HF and neuromuscular disorders. Left ventricular dysfunction is another risk factor for thromboembolism, as a result of blood stagnation and local myocardial injury. Moreover, it is not completely clarified if the presence of deep intertrabecular recesses causing stagnant blood flow can constitute per se a thrombogenic substrate even in absence of ventricular dysfunction. For the clinical management of NCCM patients, an appropriate stratification of the thromboembolic risk is of utmost importance for a timely initiation of anticoagulant therapy. The aim of the present study is to review the available literature on NCCM with particular attention on thromboembolic risk stratification and prevention and the current evidence for oral anticoagulation therapy. The use of direct oral anticoagulants vs. vitamin K antagonists is also discussed with important implications for patient treatment and prognosis.

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