Noncompaction Of Myocardium Research Articles

Pathophysiological and Pedigree Analysis of Left Ventricular Noncompaction in Japanese Macaques (Macaca fuscata).

Left ventricular noncompaction (LVNC) involving genetic mutation is categorized as an unclassified cardiomyopathy, and its diagnostic criteria have not been standardized. This could be because precise animal models of LVNC have not been created in any laboratory animal species. This study aimed to analyze the pathophysiology and familial tendency of LVNC in Japanese macaques. Two Japanese macaques with LVNC, and their parents who were suspected of having cardiac disease, were examined. One macaque with LVNC was examined using chest radiography, echocardiography, cardiac biomarkers, cardiac MRI, and pathologic examination, and the other macaque was examined using chest radiography, echocardiography, and cardiac biomarkers. Their common father and the mother of one of the macaques with LVNC were tested for chest radiography and cardiac biomarkers. Echocardiography revealed a meshwork with trabeculation and deep intertrabecular recesses in all their left ventricular walls. The 2 macaques with LVNC demonstrated a layered appearance of the myocardium, consisting of noncompacted myocardium on the endocardial side and compacted myocardium on the epicardial side, with a noncompacted/compacted ratio of 6.0 and 5.8, respectively. One of the 2 macaques with LVNC (case 1) had elevated levels of troponin I, troponin T, atrial natriuretic peptide, and brain natriuretic peptide. The second macaque with LVNC (case 2) showed blood flow in the intertrabecular recesses on echocardiography. The common father (case 3) of the 2 macaques with LVNC and the mother (case 4) of one of the macaques with LVNC had elevated levels of troponin I and troponin T. In case 1, histopathologic examination revealed fibrous thickening of the endocardium, fibrosis of the myocardial interstitium, myocardial disarray, vacuolar degeneration, anisonucleosis, and necrosis of myocardial cells. This suggests that Japanese macaques could serve as a reliable animal model of human LVNC.

A case report of autosomal recessive polycystic kidney disease with noncompaction of ventricular myocardium: coincidence or different manifestations of ciliopathy?

BackgroundAutosomal recessive polycystic kidney disease (ARPKD) is a rare inherited cystic disease characterized by bilateral renal cyst formation and congenital liver fibrosis. Cardiovascular disorders such as noncompaction of ventricular myocardium (NVM) have not been reported with ARPKD.Case presentationA 5-month-old girl was examined after presenting with a fever and turbid urine for one day and was diagnosed as urinary tract infection. Urinary ultrasound showed multiple round, small cysts varying in size in both kidneys. Genetic testing revealed two heterozygous mutations and one exon deletion in the polycystic kidney and hepatic disease 1 gene, indicating a diagnosis of ARPKD. During hospitalization, she was found to have chronic heart failure after respiratory tract infection, with an ejection fraction of 29% and fraction shortening of 13%. When the patient was 15 months old, it was found that she had prominent trabeculations and deep intertrabecular recesses with the appearance of blood flow from the ventricular cavity into the intertrabecular recesses by echocardiography. The noncompaction myocardium was 0.716 cm and compaction myocardium was 0.221 cm (N/C = 3.27), indicating a diagnosis of NVM. Liver and kidney function remained normal during four-year follow-up.ConclusionsThis is the first report of NVM in a patient with ARPKD. It is unsure if the coexistence of NVM and ARPKD is a coincidence or they are different manifestations of ciliary dysfunction in the heart and kidneys.

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.

Preeclampsia/eclampsia impacts the structure and function of neonatal hearts probably by reducing myocardial compaction

PurposePreeclampsia/Eclampsia (PE/E) poses significant risks to neonatal cardiac health. Traditional echocardiographic methods have limitations in detailing these impacts. This study hypothesized that echocardiographic radiomics could provide a more comprehensive assessment of the cardiac changes in neonates affected by PE/E. MethodIn a comprehensive analysis, 2594 neonates underwent echocardiographic screening. From these, 556 were selected for detailed radiomics analysis, focusing on cardiac shape, movement, and texture features. A multiblock sparse partial least squares (sPLS) model integrated these features to assess their association with PE/E. ResultsNewborns from PE/E-affected pregnancies displayed lower left ventricular ejection fractions compared to the control group (61.1 % vs. 66.2 %). Our radiomics approach extracted 15,494 features per neonate, with the sPLS model identifying 17 features significantly correlated with PE/E. Among these, texture features representing myocardial non-compaction were most strongly correlated with PE/E (correlation coefficient r = 0.63). Detailed visualization of these texture features suggested that PE/E might lead to more pronounced myocardial non-compaction, characterized by a thicker non-compaction layer and increased cardiac trabeculation. ConclusionsOur findings demonstrate the potential of echocardiographic radiomics as a tool for assessing the impact of PE/E on neonatal cardiac function. The correlation between PE/E and myocardial non-compaction underlines the need for enhanced cardiac monitoring in neonates born to PE/E-affected mothers. This study contributes to a better understanding of PE/E's cardiac implications, potentially guiding future clinical practices.

Non-compaction myocardium in an early-treated infantile-onset Pompe disease patient

Non-compaction myocardium in an early-treated infantile-onset Pompe disease patient

Kiosk 1Q-TA-08 - An Unusual Case of Myocardial Non-compaction and Mitral Annular Disjunction

Kiosk 1Q-TA-08 - An Unusual Case of Myocardial Non-compaction and Mitral Annular Disjunction

Non-compacted myocardium in an adult with acute neurological deficit in the Emergency Department: a case report

Non-Compacted Myocardium (NCM) is an uncommon cardiac condition with a genetic predisposition, often characterized by trabeculae and distinct myocardial layers. This case report discusses a 59-year-old hypertensive, diabetic male with acute neurological symptoms. Diagnosed with an ischemic stroke, subsequent investigations revealed features indicative of NCM. Confirmatory Cardiac Magnetic Resonance Imaging (CMR) and echocardiography were pivotal for diagnosis. The patient received specialized outpatient follow-up, emphasizing the importance of early diagnosis and tailored treatment. This report contributes to the understanding of NCM's diverse clinical presentations and underscores the significance of a multidisciplinary approach for effective patient care.

Left ventricular noncompaction with ventricular aneurysm in a 6-year-old patient

Ventricular noncompaction is a rare type of cardiomyopathy often associated with a ventricular aneurysm. We present a clinical case of a 6-year-old female who arrived at our clinic complaining of physical exertion. Echocardiography revealed prominent trabeculations in the left ventricular wall and a lateral-basal part bulging out, indicating noncompaction of the left ventricular myocardium with an aneurysm. With a noncompacted-to-compacted myocardium ratio of 2.6, magnetic resonance imaging revealed the presence of noncompacted myocardium. It also revealed impaired left ventricular systolic function and a left ventricular aneurysm with myocardial scarring. Coronary angiography ruled out coronary artery disease. Therefore, myocardial scarring was caused by noncompacted myocardium microcirculatory disorder.

Myocardial Edema: A Rare but Specific Manifestation of Neonatal Capillary Leak Syndrome

Capillary leak syndrome (CLS) is a rare, potentially life-threatening systemic disease with a mortality rate of more than 30%. Its major clinical manifestation and diagnostic basis are systemic hyperedema. However, we lack knowledge about the presence of severe myocardial edema in patients with CLS. If myocardial edema cannot be detected, it will become a dangerous hidden condition that threatens the safety of patient lives. With the routine application of point-of-care critical ultrasound (POC-CUS) in clinical practice, we found that 2 of 37 (5.41%) CLS patients had severe myocardial edema as the main manifestation. It is also necessary to distinguish it from myocardial noncompaction in newborn infants with severe myocardial edema. This paper will help us to have a deeper understanding and correct management of CLS and, thus, help us to improve the prognosis of patients. This article also suggests the necessity of routine implementation of POC-CUS in the neonatal intensive care unit.

Quantitative characteristics of cardiomyopathy phenotypes in children and adults by the value of deviation from the norm of echocardiographic parameters

The widespread use of the term “cardiomyopathy” in modern cardiology dictates the need to systematize and concretize the use of this term. Based on the approximation of changes in the function, cavities and thickness of the walls of the chambers to known dilated, hypertrophic and restrictive cardiomyopathy, imaging methods in cardiology have made it possible to combine many pathological changes in the chambers of the heart into certain sets of visual perception and to form the concepts of phenotypes and phenotypes of most heart diseases.Aim: To develop quantitative criteria for phenotypic changes in the left ventricle (LV), which can be used to control the dynamics of the disease and evaluate the effectiveness of treatment based on the results of a retrospective analysis of a large volume of digital data of echocardiographic studies in patients with myocardial diseases and healthy individuals.Material and Methods. A retrospective analysis of echocardiography protocols for the period 2009–2021 was performed in 13023 healthy individuals aged 2 days to 59 years and 317 patients with various heart diseases: hypertrophic, dilated and restrictive cardiomyopathies, and LV non-compaction myocardium aged 4 days to 60 years.Results. Criteria have been developed and proposed for the quantitative assessment by Z-index of pathological phenotypes of the left ventricle, which have a high (more than 95%) negative specificity in healthy individuals of any age and a positive one in patients with cardiomyopathies. The ability to quantify the dynamics of the course of diseases occurring with manifestations of restriction, dilation and LV hypertrophy was shown.

Prognostic prediction of left ventricular myocardial noncompaction using machine learning and cardiac magnetic resonance radiomics.

Although there are many studies on the prognostic factors of left ventricular myocardial noncompaction (LVNC), the determinants are varied and not entirely consistent. This study aimed to build predictive models using radiomics features and machine learning to predict major adverse cardiovascular events (MACEs) in patients with LVNC. In total, 96 patients with LVNC were included and randomly divided into training and test cohorts. A total of 105 cine cardiac magnetic resonance (CMR)-derived radiomics features and 35 clinical characteristics were extracted. Five different oversampling algorithms were compared for selection of the optimal imbalanced processing. Feature importance was assessed with extreme gradient boosting (XGBoost). We compared the performance of 5 machine learning classification methods with different sample:feature ratios to determine the optimal hybrid classification strategy. Subsequently, radiomics, clinical, and combined radiomics-clinical models were developed and compared. The machine learning pipeline included an adaptive synthetic (ADASYN) algorithm for imbalanced processing, XGBoost feature selection with a sample:feature ratio of 10, and support vector machine (SVM) modeling. The areas under the receiver operating characteristic curves (AUCs) of the radiomics model, clinical model, and combined model in the validation cohort were 0.87 (sensitivity 83.33%, specificity 64.29%), 0.65 (sensitivity 16.67%, specificity 78.57%), and 0.92 (specificity 33.33%, sensitivity 100.00%), respectively. The radiomics model performed similarly to the clinical and combined models (P=0.124 and P=0.621, respectively). The performance of the combined model was significantly better than that of the clinical model (P=0.003). The machine learning-based cine CMR radiomics model performed well at predicting MACEs in patients with LVNC. Adding radiomics features offered incremental prognostic value over clinical factors alone.

Cardiomyopathy Following Biventricular Noncompaction

Myocardial noncompaction (NC) is usually seen isolated; however, sometimes other congenital heart abnormalities may accompany the myocardial noncompaction. Left ventricular noncompaction (LVNC) is a genetic anomaly where the ventricular wall is replaced by thick ventricular trabeculations with deep intertrabecular recesses held together by a thin compacted layer. The most common site of involvement is the left ventricle, with right ventricular involvement being reported in a few cases. Isolated right ventricular noncompaction (RVNC) is rare yet life-threatening if left untreated. Genetic testing may identify possible mutation of gene. Early diagnosis of NC is very important for disease management. The management of associated other cardiac pathologies simultaneously will help improve the symptoms and prognosis in patients with noncompaction. Here we report a case of 60-year-old male patient presenting with heart failure due to cardiomyopathy with biventricular noncompaction. The case is being presented as an academic interest. Mugda Med Coll J. 2023; 6(1): 44-47

The dimethadione-exposed rat fetus: an animal model for the prenatal ultrasound characterization of ventricular septal defect

BackgroundVentricular septal defect (VSD) is the most prevalent congenital heart disease (CHD) and is easily misdiagnosed or missed. An appropriate VSD animal model could be used to analyze the ultrasound characteristics and their related pathological bases, and provides the opportunity to further explore the pathogenesis of VSD. Currently, little is known about whether ultrahigh-frequency ultrasound biomicroscopy (UBM) is suitable to diagnose VSD of fetal rats. There is no research on whether a dimethadione (DMO)-induced fetal VSD model is suitable for the observation and analysis of imaging characteristics and the associated pathological basis.MethodsWe used DMO to induce VSD. UBM was used to perform the prenatal ultrasound characterization. With the pathological results used as the gold standard, the ultrasound characteristics and their related pathological bases were analyzed.ResultsThe incidence of VSD in the DMO group was 42.05% and 39.71% (diagnosed by UBM and pathology, respectively, P > 0.05). The prenatal ultrasound findings and pathological basis of various diseases, including isolated VSD, complex CHD containing VSD, and extracardiac lesions, were detected and discussed. It was discovered that some fetuses showed features of noncompacted ventricular myocardium, and for the first time, clusters of red blood cell traversing the cardiomyocytes.ConclusionsThe DMO-induced VSD model is a low-cost model with a high success rate and is suitable for the observation and analysis of VSD. UBM is suitable for evaluating VSD.

A case of lef t ventricular non-compaction (differential diagnosis with hypertrophic cardiomyopathy)

Non-compacted myocardium is a condition characterized by changes in the myocardium in the form of a slight thickening of the epicardial layer with pronounced trabecularity and deep spaces that communicate with the left ventricle cavity, but not with the coronary arteries. The non-compacted myocardium is characterized by the presence of areas of a two-layer myocardium structure with a pronounced spongy layer and a large number of trabeculae and intertrabecular spaces freely communicating with the heart cavity according to imaging study methods.

Acute electrocardiographic correlates post heart transplant in a non-compacted myocardium obese patient: A case report

This work describes a patient with non-compacted myocardium with a very low ejection fraction, type I obesity, with a history of atrial septal defect (ASD) correction, who underwent heart transplantation and the immediate electrocardiographic changes after the procedure. The immediate alterations included atrial fibrillation with a high ventricular response, bradycardia requiring pacing, and alterations due to right ventricular pressure overload (right bundle branch block). After the initial perioperative course, we observed good evolution after transplantation and clinical treatment. At the one-year follow-up, the patient remained without signs of rejection and with grade I functional capacity, free of cardiovascular events.

Primary diagnosis of dilated cardiomyopathy in combination with myocardial non-compaction in an elderly patient: a case report

The classifications of the World Health Organization, the European Society of Car­-diology and the American Heart Association indicate the existence of several pheno­types of myocardial non-compaction (MnC) with specific structural and func­tional abnormalities. The MnC+dilated cardiomyopathy (DCM) phenotype is considered one of the most severe variants. Disputes continue about whether to regard MnC as an independent disease or as a consequence of DCM and heart failure. In other words, MnC remains one of the most mysterious heart diseases. As an illustration of MnC+DCM phenotype, the authors offer a case of a patient with cardiovascular disease from her youth, but maintained a satisfactory state of health and performance until her old age. Symptoms of arrhythmia and heart failure with massive pericardial effusion were first described in her at the age of 66, which is uncharacteristic for this MnC phenotype. Attention is drawn to the difficulties of differential diagnosis of MnC due to the non-specificity of clinical performance, the role of echocardiography in the recognition of the disease and predictors of its unfavorable outcome. The fact that the patient, even when typical signs of MnC were detected during echocardiography, initially had coronary artery disease as the main diagnosis, indicates the relevance of publishing another case report on this rare pathology in order to improve the awareness of cardiologists and general practitioners.

Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient

Classic infantile Pompe disease is characterized by a severe phenotype with cardiomyopathy and hypotonia. Cardiomyopathy is generally hypertrophic and rapidly regresses after enzyme replacement therapy. In this report, for the first time, we describe a patient with infantile Pompe disease and hypertrophic cardiomyopathy that evolved into non-compaction myocardium after treatment. The male newborn had suffered since birth with hypertrophic cardiomyopathy and heart failure. He was treated with standard enzyme replacement therapy (ERT) (alglucosidase alfa) and several immunomodulation cycles due to the development of anti-ERT antibodies, without resolution of the hypertrophic cardiomyopathy. At the age of 2.5 years, he was treated with a new combination of ERT therapy (cipaglucosidase alfa) and a chaperone (miglustat) for compassionate use. After 1 year, the cardiac hypertrophy was resolved, but it evolved into non-compaction myocardium. Non-compaction cardiomyopathy is often considered to be a congenital, primitive cardiomyopathy, due to an arrest of compaction of the myocardium wall during the embryonal development. Several genetic causes have been identified. We first describe cardiac remodeling from hypertrophic cardiomyopathy to a non-compaction form in a patient with infantile Pompe disease treated with a new ERT. This has important implications both for the monitoring of Pompe disease patients and for the understanding of the pathophysiological basis of non-compaction myocardium.

Value of cardiac magnetic resonance feature tracking technology in the differential diagnosis of isolated left ventricular noncompaction and dilated cardiomyopathy.

This study explored the value of myocardial strain in the differential diagnosis of isolated left ventricular myocardial noncompaction (ILVNC) and dilated cardiomyopathy (DCM) using cardiac magnetic resonance (CMR) feature tracking technology. This retrospective analysis was performed on consecutive patients (25 with ILVNC, 30 with DCM, and 30 healthy controls) presenting to Shanxi Cardiovascular Hospital. All ILVNC patients met echocardiographic and CMR criteria for ventricular non-compaction. All patients with DCM met the 2016 American Heart Association and 2018 Chinese Medical Association Cardiovascular Branch diagnostic criteria. cvi42 software (Circle Cardiovascular Imaging) was used to measure radial, circumferential, and longitudinal strain (LS) globally and in segments of the left ventricle. Analysis of variance was used to compare strains among groups and among different segments within the same group. Receiver operating characteristic (ROC) curves were used to evaluate the diagnostic efficacy of different parameters in ILVNC and DCM. Basal circumferential strain was lower in the DCM than in the ILVNC group (P=0.05). Both median and apical LS were lower in the ILVNC than in DCM group (P=0.02 and P=0.01, respectively). ROC curves showed that apical LS was the most effective in distinguishing ILVNC from DCM [area under the curve (AUC) =0.883; P<0.001; 95% CI: 0.850-0.977]. Comparing strains among different segments within the same group revealed that in DCM, the circumferential and LS of the apex were higher than those of the basal segment, which is consistent with the pattern in healthy controls; however, has no such regular pattern was seen in ILVNC. Myocardial strain parameters are of considerable value in the differential diagnosis of ILVNC and DCM. Differences in patterns between ILVNC and DCM can be sensitively identified, providing more comprehensive information for early clinical diagnosis.

Nucleotide sequence variant of the TPM1 gene in a family with different phenotypes of left ventricular non-compaction

Left ventricular non-compaction (LVNC) is a rare, genetically and phenotypically heterogeneous disease, which is often accompanied by diagnostic difficulties.Aim. To demonstrate several generations of a family with LVNC with various clinical and phenotypic manifestations of the disease (dilated and isolated types of LVNC) with an identified rs397516387 variant of the TPM1 gene.Material and methods. Based on the multicenter registry "Myocardial Non-compaction", a family with a familial form of LVNC was selected. Next generation sequencing (NGS) was performed on an Ion S5 system (Thermo Fisher Scientific, USA) using Ampliseq technology. Variant was verified using Sanger sequencing on an Applied Biosystem 3500 Genetic Analyzer (Thermo Fisher Scientific, USA). For clinical interpretation, variants in the genes associated with LVNC with a minor allele frequency &lt;0,1% were selected in the gnomAD database (v2.1.1). Results. Variant rs397516387 was found in 5 family members, including the proband. Further examination revealed LVNC in 2 additional family members. The proband and the proband’s uncle had a dilated type of LVNC, and the proband’s mother had an isolated type.Conclusion. The paper presents several generations of a family with different phenotypic manifestations of LVNC and rs397516387 variant in the TPM1 gene. The beginning of genetic screening from a proband, a thorough collection of a family history and further detailed genetic screening of relatives led to the identification of rs397516387 variant in 4 more family members, which in turn made it possible to conduct an additional examination to confirm the diagnosis and prescribe timely drug therapy.

Magnetic resonance diagnostic criteria of non-compaction cardiomyopathy: new diagnostic criteria still needed?

Summary Non-compaction cardiomyopathy (NCC) is a rare pathology, but the exact rates of its prevalence are not known due to the lack of a diagnostic gold standard. The purpose of this article is to analyse the available cardiovascular magnetic resonance (CMR) diagnostic criteria of non-compaction described in the literature and to compare their sensitivity and specificity in the diagnosis of NCC. A search of available literature related to the CMR diagnostic criteria of myocardial non-compaction was conducted in the medical database PubMed in February of 2022. The period of publication of scientific articles covered the years from 1996 to 2022. A total of 7 full-text scientific articles were included in the final literature review. The main diagnostic criteria were used: the maximum non-compact (NCM) to compact myocardial layers (CM) ratio (NCM:CM), the percentage of trabeculated left ventricular (LV) myocardial mass, the percentage of trabeculated LV myocardial volume, the non-compact myocardial mass index of the total LV, and the determination of the total LV and the maximal fractal dimension (FD) of the apex with the use of fractal analysis. The lack of accurate diagnostic criteria results in an overdiagnosis of NCC. The highest sensitivity and specificity are associated with the maximum FD &gt; 1.30 of the apex established by applying the fractal analysis method. Fractal analysis requires dedicated software, and this method is difficult to apply in routine clinical practice. Thus, the diagnostic criteria for the NCC using magnetic resonance imaging with higher diagnostic value remain to be sought.