P4658Left ventricular non-compaction, trait or cardiomyopathy

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
E Kayvanpour ◽  
F Sedaghat-Hamedani ◽  
W T Gi ◽  
O F Tugrul ◽  
A Amr ◽  
...  
Keyword(s):  
Clinical Outcome ◽  
Heart Diseases ◽  
Pathological Condition ◽  
Meta Analysis ◽  
Positive Family History ◽  
Left Ventricular ◽  
Healthy Individuals ◽  
Comprehensive Overview ◽  
Ebstein Anomaly ◽  
Wide Range

Abstract Background The diagnosis of cardiac hypertrabecularization has increased considerably in recent years. Whether or not the non-compaction is a pathological condition or a physiological trait is still highly debated. We performed a meta-analysis and systematic review on more than 7,000 adult individuals with left ventricular non-compaction to provide a comprehensive overview on its clinical outcome as well as its genetic background. Methods We first retrieved PubMed/Medline literatures in English language between 2000 to 2018 on clinical outcome and genotype of patients with non-compaction. Altogether, 35 studies with non-compaction cardiomyopathy patients passed the selection criteria and were extensively reviewed and meta-analyzed. Furthermore, we summarized the results of 8 major studies, which investigated the non-compaction in athletes, pregnant women, patients with sickle cell disease, or in individuals from population-based cohorts. Results About 60% of the patients with left-ventricular non-compaction cardiomyopathy were male. The diagnosis was mostly made in the mid of patients' 5th decade. Seven percent of patients had congenital heart diseases (CHD) including atrial/ventricular septum defect or Ebstein anomaly. Around 25% of the patients had positive family history for cardiomyopathy. Frequent phenotypic manifestations were heart rhythm abnormalities including conduction disease (26%), supraventricular tachycardia (17%), and sustained or non-sustained ventricular tachycardia (18%). Neuromuscular disease was a reported comorbidity with a mean frequency of 5%. Three important outcome measures including systemic thromboembolic events (9%), heart transplantation (4%), and adequate ICD therapy (15%) were reported. The genetics of non-compaction cardiomyopathy showed TTN to be the most frequently mutated gene (11%), followed by MYH7 (9%), MYBPC3 (5%), and CASQ2, LDB3 (3% each). TPM1, MIB1, ACTC1, and LMNA mutations had an average frequency of 2% each followed by PLN, HCN4, TAZ, DTNA, TNNT2, and RBM20 (1% each). Eight studies that investigated the occurrence of non-compacted myocardial regions in apparently heart healthy individuals applied different, established imaging-based diagnostic criteria for non-compaction and could confirm its presence in a wide range of 1.3% to 37%. Conclusion This meta-analysis summarizes the clinical presentation of left ventricular non-compaction in a large dataset and indicates that its presence often leads to unfavourable outcome, but can also be observed in heart healthy individuals. Multimodal diagnostic workflows are needed for comprehensive understanding of these individuals and for distinguishing between benign morphological trait and manifest cardiomyopathy.

scholarly journals P342 Left atrial contraction longitudinal strain is a volume-independet parameter

2020 ◽  
Vol 21 (Supplement_1) ◽  
Author(s):  
S Unlu ◽  
B Sezenoz ◽  
A Sahinarslan ◽  
T Arinsoy ◽  
A Cengel
Keyword(s):  
Speckle Tracking ◽  
Longitudinal Strain ◽  
Heart Diseases ◽  
Left Ventricular ◽  
Reference Points ◽  
Volume Index ◽  
Valvular Heart Diseases ◽  
Wide Range ◽  
Before And After ◽  
2D Speckle Tracking

Abstract Background The left atrium (LA) is the main contributor of left ventricular (LV) filling. LA volume and volume index are routinely evaluated during echocardiographic assessment as having prognostic value in a wide range of cardiovascular pathologies. Yet, LA volume is easily affected by volume status. Thus, a non-invasive novel parameter such as indices of LA longitudinal strain (LS) have been proposed as alternative measurements. LA strain was shown to be associated with LV filling pressures and it has been suggested to provide prognostic information in patients with heart failure, atrial fibrillation, ischemic and valvular heart diseases. Nevertheless the acute effect of hemodynamic changes on LA LS indices is not well-established due to lack of evidence in healthy subjects and patient populations. The aim of this study is to evaluate the LA mechanics and change in echocardiographic methods used for assessment of LA by examining the end stage kidney patients before and after the hemodialysis (HD). Methods Patients between 18 and 85 years of age, receiving HD for at least 6 months were included. The echocardiographic images were obtained before and after HD. 2D speckle tracking strain analysis was performed for LA in 45 patients. Reference points for analysis are set on the "P" waves. LA reservoir, conduit and contraction phase LS were calculated. The changes in echocardiographic methods before and after hemodialysis were examined. Correlation between volume depletion and change in echocardiographic parameters were calculated. Results 45 patients (47.7 ± 14.7 years of age, 19 women) were included in study. The mean volume of ultrafiltration was 2755.12 ± 845.5 ml . The chamber sizes of LA are decreased after hemodialysis (LA diameter; 4.9 ± 0.8 cm vs. 4.4 ± 0.5 cm p < 0.001, LA area; 27.8 ± 4.0 cm2 vs. 19.6 ± 3.8 cm2 p < 0.001). LA reservoir phase LS measurements (% 44.6 ± 10.8 vs. % 38.15 ± 8.11 p < 0.001) showed significant changes after HD. In contrast LA contraction LS measurements (% -16.6 ± 7.0 vs. % -16.4 ± 7.1 p:0.893) did not differ after HD. The relative change in LA reservoir phase LS (r = 0.74, p:0.001) showed correlation with the ultrafiltrated volume. Conclusion LA contraction LS is a volume independent measurement obtained by 2D speckle tracking. Assessment of LA mechanics with echocardiography would be an easy and repeatable assessment which can guide to describe the cardiac pathophysiology and hemodynamics better. Moreover defining novel volume independent parameters for evaluation of LA would contribute to clinical perspectives of the patients.

Left ventricular non-compaction: diagnosis and clinical management

ESC CardioMed ◽  
2018 ◽  
pp. 1509-1512
Author(s):  
Jens Mogensen ◽  
Torsten B Rasmussen
Keyword(s):  
Systolic Function ◽  
Heart Diseases ◽  
Left Ventricular ◽  
Barth Syndrome ◽  
Left Ventricular Cavity ◽  
Healthy Individuals ◽  
Familial Disease ◽  
The Family ◽  
History Of ◽  
The Individual

Left ventricular non-compaction (LVNC) is characterized by a specific morphological appearance of the myocardium with an inner non-compacted hypertrabeculated layer and deep recesses communicating with the left ventricular cavity, and an outer compacted myocardium. LVNC is a specific morphological finding and may be present in healthy individuals with apparently normal hearts and in patients with various cardiac and systemic conditions including X-linked Barth syndrome, cardiomyopathies, congenital heart diseases, and non-cardiac systemic diseases. Recent investigations have revealed that LVNC may appear as the sole manifestation of disease in carriers of genetic mutations associated with dilated and hypertrophic cardiomyopathies. Therefore, it is important to consider the possibility of familial disease when diagnosing LVNC and explore the family history of the patient. Clinical screening of relatives should be offered when familial disease is suspected or when LVNC remains unexplained. Anticoagulation should be considered when LVNC appears in patients with impaired systolic function of the left ventricle to avoid formation of thrombi and cardiac embolization following an assessment of the entire risk profile of the individual patient.

Left ventricular non-compaction: diagnosis and clinical management

ESC CardioMed ◽  
2018 ◽  
pp. 1509-1512
Author(s):  
Jens Mogensen ◽  
Torsten B Rasmussen
Keyword(s):  
Systolic Function ◽  
Heart Diseases ◽  
Left Ventricular ◽  
Barth Syndrome ◽  
Left Ventricular Cavity ◽  
Healthy Individuals ◽  
Familial Disease ◽  
The Family ◽  
History Of ◽  
The Individual

Left ventricular non-compaction (LVNC) is characterized by a specific morphological appearance of the myocardium with an inner non-compacted hypertrabeculated layer and deep recesses communicating with the left ventricular cavity, and an outer compacted myocardium. LVNC is a specific morphological finding and may be present in healthy individuals with apparently normal hearts and in patients with various cardiac and systemic conditions including X-linked Barth syndrome, cardiomyopathies, congenital heart diseases, and non-cardiac systemic diseases. Recent investigations have revealed that LVNC may appear as the sole manifestation of disease in carriers of genetic mutations associated with dilated and hypertrophic cardiomyopathies. Therefore, it is important to consider the possibility of familial disease when diagnosing LVNC and explore the family history of the patient. Clinical screening of relatives should be offered when familial disease is suspected or when LVNC remains unexplained. Anticoagulation should be considered when LVNC appears in patients with impaired systolic function of the left ventricle to avoid formation of thrombi and cardiac embolization following an assessment of the entire risk profile of the individual patient.

scholarly journals Diagnostic and prognostic significance of premature ventricular complexes in community and hospital-based participants: A scoping review

PLoS ONE ◽  
2021 ◽  
Vol 16 (12) ◽  
pp. e0261712
Author(s):  
Sukardi Suba ◽  
Kirsten E. Fleischmann ◽  
Hildy Schell-Chaple ◽  
Priya Prasad ◽  
Gregory M. Marcus ◽  
...  
Keyword(s):  
Scoping Review ◽  
Randomized Clinical Trials ◽  
Heart Diseases ◽  
Meta Analysis ◽  
Prognostic Significance ◽  
Hospital Setting ◽  
Left Ventricular ◽  
Diagnostic Significance ◽  
Premature Ventricular Complexes ◽  
Qrs Morphology

Background While there are published studies that have examined premature ventricular complexes (PVCs) among patients with and without cardiac disease, there has not been a comprehensive review of the literature examining the diagnostic and prognostic significance of PVCs. This could help guide both community and hospital-based research and clinical practice. Methods Scoping review frameworks by Arksey and O’Malley and the Joanna Briggs Institute (JBI) were used. A systematic search of the literature using four databases (CINAHL, Embase, PubMed, and Web of Science) was conducted. The review was prepared adhering to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis Extension for Scoping Review (PRISMA-ScR). Results A total of 71 relevant articles were identified, 66 (93%) were observational, and five (7%) were secondary analyses from randomized clinical trials. Three studies (4%) examined the diagnostic importance of PVC origin (left/right ventricle) and QRS morphology in the diagnosis of acute myocardial ischemia (MI). The majority of the studies examined prognostic outcomes including left ventricular dysfunction, heart failure, arrhythmias, ischemic heart diseases, and mortality by PVCs frequency, burden, and QRS morphology. Conclusions Very few studies have evaluated the diagnostic significance of PVCs and all are decades old. No hospital setting only studies were identified. Community-based longitudinal studies, which make up most of the literature, show that PVCs are associated with structural and coronary heart disease, lethal arrhythmias, atrial fibrillation, stroke, all-cause and cardiac mortality. However, a causal association between PVCs and these outcomes cannot be established due to the purely observational study designs employed.

Genetic aspects of Ebstein anomaly and related heart diseases

2021 ◽  
Vol 76 (1) ◽  
pp. 67-74
Author(s):  
Elena V. Penyaeva
Keyword(s):  
Right Ventricle ◽  
Tricuspid Valve ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Left Ventricular ◽  
Deletion Syndrome ◽  
Published Data ◽  
Ebstein Anomaly ◽  
Hereditary Syndromes ◽  
The Right

Ebstein anomaly is a congenital heart disease, which is characterized by the presence of atrialized portion of the right ventricle, formed as a result of displacement of the tricuspid valve leaflets into the right ventricle and their partial adherence to the underlying myocardium. Atrialized portion in the right ventricle occupies the space between the fibrous annulus of the right atrioventricular orifice and the functional annulus of tricuspid valve, which represents a zone of closure of free (non-adherent to the underlying myocardium) edges of its leaflets. Ebstein anomaly is very rarely isolated, and can be combined with a number of heart diseases and be an integral part of hereditary syndromes. Currently, the role of genetic research in the investigation of the etiology of human diseases as well as understanding of the relationship between different diseases is increasing. The review presents literature data on the combination of Ebstein anomaly with other heart diseases (congenital heart diseases, Wolf-Parkinson-White syndrome, cardiomyopathies, including left ventricular noncompaction), inter alia, within the scope of hereditary syndromes (Noonan syndrome, 8p deletion syndrome, 18q deletion syndrome, 1p36 deletion syndrome, Pierre Robin syndrome). Genetic factors (gene and chromosomal mutations) lying at the core of Ebstein anomaly, as well as heart diseases combined with it, are highlighted. The analysis of published data suggests that Ebstein anomaly is a monogenic disease, and is characterized by allelic and locus genetic heterogeneity. The combination of Ebstein anomaly with other heart diseases is based on their genetic linkage.

scholarly journals The Neural Bases of Drawing. A Meta-analysis and a Systematic Literature Review of Neurofunctional Studies in Healthy Individuals

2021 ◽  
Author(s):  
Simona Raimo ◽  
Gabriella Santangelo ◽  
Luigi Trojano
Keyword(s):  
Semantic Processing ◽  
Parietal Lobe ◽  
Functional Neuroimaging ◽  
Meta Analysis ◽  
Inferior Frontal Gyrus ◽  
Temporal Cortex ◽  
Extrastriate Cortex ◽  
Healthy Individuals ◽  
Inferior Parietal Lobe ◽  
Wide Range

AbstractDrawing is a multi-component process requiring a wide range of cognitive abilities. Several studies on patients with focal brain lesions and functional neuroimaging studies on healthy individuals demonstrated that drawing is associated with a wide brain network. However, the neural structures specifically related to drawing remain to be better comprehended. We conducted a systematic review complemented by a meta-analytic approach to identify the core neural underpinnings related to drawing in healthy individuals. In analysing the selected studies, we took into account the type of the control task employed (i.e. motor or non-motor) and the type of drawn stimulus (i.e. geometric, figurative, or nonsense). The results showed that a fronto-parietal network, particularly on the left side of the brain, was involved in drawing when compared with other motor activities. Drawing figurative images additionally activated the inferior frontal gyrus and the inferior temporal cortex, brain areas involved in selection of semantic features of objects and in visual semantic processing. Moreover, copying more than drawing from memory was associated with the activation of extrastriate cortex (BA 18, 19). The activation likelihood estimation coordinate-based meta-analysis revealed a core neural network specifically associated with drawing which included the premotor area (BA 6) and the inferior parietal lobe (BA 40) bilaterally, and the left precuneus (BA 7).These results showed that a fronto-parietal network is specifically involved in drawing and suggested that a crucial role is played by the (left) inferior parietal lobe, consistent with classical literature on constructional apraxia.

scholarly journals Ebstein anomaly, left ventricular hypertrabeculation and ventricular septal defect associated with a myh7 mutation

2021 ◽  
Vol 22 (Supplement_1) ◽  
Author(s):  
B Korkmaz ◽  
U Aydogdu ◽  
D Inan ◽  
N Keles ◽  
O Yildirimturk
Keyword(s):  
Heart Failure ◽  
Ventricular Septal Defect ◽  
Medical Treatment ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Diseases ◽  
Left Ventricular ◽  
Congenital Heart Diseases ◽  
Splice Acceptor ◽  
Ebstein Anomaly

Abstract Funding Acknowledgements Type of funding sources: None. Ebstein anomaly is an extremely rare anomaly of <1% among all congenital heart diseases. Pathologically, the septal and / or posterior leaflet of the tricuspid valve has abnormal locations towards the right ventricular apex. Ebstein anomaly is especially accompanied by atrial septal defect, patent ductus arteriosus, wolf parkinson white syndrome and pulmonary atresia. Defects located in the interventricular septum are called the ventricular septal defect (VSD). They can be single or multiple and congenital or acquired. Isolated VSDs are the most common congenital anomaly in childhood and constitute 20-30% of all congenital heart diseases. VSD can be a part of major congenital malformations ,such as, fallot tetralogy, transposition of the major arteries, double ventricular right ventricle. Left ventricular noncompaction (LVNC) is a relatively common genetic cardiomyopathy, characterized by prominent trabeculations with deep intertrabecular recesses in mainly the left ventricle. Although LVNC often occurs in an isolated entity, it may also be present in various types of congenital heart disease . A combination of Ebstein anomaly, hypertrabeculation and ventricular septal defect is a rare condition. Case Report A 49-year-old male patient presented to the emergency room with shortness of breath and swelling of the legs. The patient had diagnosed an Ebstein anomaly while the military examination in 1988. Already it ‘s known that he has gout disease and uses colchicine but no family history of any disease. On examination of the patient, bilateral ral in respiratory sounds and +++ / +++ pretibial edema in the lower extremity were detected. On his electrocardiogram, the sinus rhythm with first-degree atrioventricular block was observed. The findings on his echocardiographic examination are ejection fraction 30-35% with global left ventricular hypokinesia, Ebstein anomaly (Figure ), perimembranous type VSD, atrial septal aneurysm type 2 and left ventricular hypertrabeculation. His blood table was normal. Medical treatment of heart failure was started for the patient who was interneed to the service. After getting clinical relief, the patient was discharged under medical treatment. Genetic tests were studied while  following up at the heart failure outpatient clinic. In the MYH7 gene, splice-acceptor-2 (PVS1) variation heterozygous was detected. This variant has not been seen in national data banks of genetics. Conclusion The MYH7 gene, localized on chromosome 14p12, is composed of 41 exons and encodes the b-myosin heavy chain, expressed in cardiac muscle. Mutations in the MYH7 gene have been identified in association with left ventricular hypertrabeculation and Ebstein anomaly. In conclusion, this is the first known report of Ebstein anomaly associated with the splice-acceptor-2 variation heterozygous of the MYH7 gene. Abstract Figure

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