BACKGROUND Left ventricular noncompaction(LVNC)is a genetic cardiomyopathy.It is characterized by intensely developed trabeculae in the ventricles with deep intertrabecular lacunae.LVNC manifests as arrhythmias and he...BACKGROUND Left ventricular noncompaction(LVNC)is a genetic cardiomyopathy.It is characterized by intensely developed trabeculae in the ventricles with deep intertrabecular lacunae.LVNC manifests as arrhythmias and heart failure with a predisposition for thrombus formation.AIM To study predictors of arrhythmic,thromboembolic events and adverse outcomes(death/transplantation)in adult patients with LVNC.METHODS Adult patients with LVNC were included(n=125;mean follow-up:14 months).Electrocardiography,echocardiography,and 24-hour electrocardiography monitoring were performed.Other procedures were conducted for some patients including:Coronary angiography;cardiac magnetic resonance imaging;cardiac computed tomography;genetic testing;myocardial pathological examination;and anti-cardiac antibody level estimation.Primary endpoints were death,heart transplantation,combined endpoint(death+transplantation),and sudden cardiac death.Secondary endpoints were intracardiac thrombosis,embolic events,myocardial infarction,sustained ventricular tachycardia(VT),and implantable cardioverter-defibrillator intervention.RESULTS LVNC manifestations included non-sustained VT,thrombosis/embolism,sustained VT, and sudden cardiac death. Non-sustained VT was associated with the New York Heart Association(NYHA) chronic heart failure (CHF) class, poor R-wave progression, superimposed myocarditis, and highermortality. Thrombosis/embolism was associated with NYHA CHF class ≥ 3, right ventricular end-diastolicdiameter ≥ 3 cm, right atrium volume ≥ 67 mL, left ventricle end-diastolic diameter ≥ 6.3 cm, and velocity timeintegral ≤ 11.2 cm. Sustained VT was associated with premature ventricular contractions (PVCs), low QRS voltage,and atrioventricular block. PVCs > 500/day were predictive of defibrillator intervention. Fatal outcomes wereassociated with E wave/A wave ratio > 1.9, left ventricle ejection fraction < 35%, NYHA CHF class ≥ 3, VT, andmyocarditis.CONCLUSIONFrequent PVCs, non-sustained VT, low QRS voltage, and signs of systolic dysfunction on echocardiogram arepredictors of life-threatening events in patients with LVNC.展开更多
We report a 35-year-old female patient with hypertrophic cardiomyopathy, left ventricular noncompaction, and Wolff-Parkinson-White EKG pattern. Several other family members present the same clinical condition. We spec...We report a 35-year-old female patient with hypertrophic cardiomyopathy, left ventricular noncompaction, and Wolff-Parkinson-White EKG pattern. Several other family members present the same clinical condition. We speculate that this phenotype is related to the genotypes PRKAG2 and LAMP2 represented by mutations of the genes encoding AMP-activated protein kinase (PRKAG2) and lysosome associated membrane protein 2 (LAMP2).展开更多
Objectives: To analyse the clinical profile of consecutive cases of Left Ventricular Non Compaction (LVNC) with particular interest in non-compacted segments valuation. Methods: There were 18,000 patients seen from 20...Objectives: To analyse the clinical profile of consecutive cases of Left Ventricular Non Compaction (LVNC) with particular interest in non-compacted segments valuation. Methods: There were 18,000 patients seen from 2007 to 2010, with a complete evaluation including family history and personal cardiac history, clinical examination and electrocardiography. Diagnosis was based on three published definitions. Results: The diagnosis of LVNC was placed in 1.4% of cases. Clinical and echo-cardiographic data for the 250 cases of LVNC are presented. Trabecular meshwork was observed predominantly at the apex (91.6%), in the lateral and inferior wall (40.4% and 38.0% respectively), and less frequently in the posterior and anterior wall (21.6% and 9.2% respectively). Conclusions: This study suggests that LVNC is a form of cardiomyopathy with higher prevalence and relatively better prognosis than previously reported.展开更多
Background: Left ventricular noncompaction with multiple left ventricular thrombi can be revealed by echocardiography, and early diagnosis seems to be imperative to prevent significant embolic events. Case Report: A 5...Background: Left ventricular noncompaction with multiple left ventricular thrombi can be revealed by echocardiography, and early diagnosis seems to be imperative to prevent significant embolic events. Case Report: A 57-year-old woman presented with symptoms of heart failure. Two-dimensional transthoracic echocardiogram demonstrated a dilated and diffusely hypokinetic left ventricle with severe impaired left ventricular systolic function. Moreover, a markedly thickened endocardium at the left ventricular apex and middle segment with numerous, excessively prominent trabeculations and deep intertrabecular recesses were present. During systole, the ratio of the noncompacted to compacted myocardial layers at the site of the maximal wall thickness was above two, a characteristic finding in left ventricular non-compaction. Multiple mobile, homogeneous, echodense thrombi were identified in the left ventricle, with the largest one in the apical noncompacted segment (dimensions, 32 × 14 mm). Cardiac magnetic resonance imaging confirmed the diagnosis of noncompacted myocardium with the presence of multiple thrombi. After anticoagulant therapy, her symptoms improved and thrombi dissolved. Unexpectedly, she re-admitted to the cardiovascular unit with progressive dyspnea. Transthoracic echocardiogram showed new large right atrial thrombi, with the largest one was 43 × 38 mm compared to the echocardiogram done 11 months ago. The patient was anticoagulated with continuous heparin infusion for several days followed by oral Apixaban. After 4 weeks, the floating thrombi completely disappeared. After a 26-month follow-up, the patient’s condition was stable without embolic complications. Conclusion: Echocardiography was the cornerstone of diagnostic methods for early detecting left ventricular thrombi to eventually prevent embolic events.展开更多
Contrast echocardiography with left ventricular opacification （LVO） improves the definition of endocardium in two-dimensional echocardiography （2DE）. This study was aimed to determine whether LVO offered added dia...Contrast echocardiography with left ventricular opacification （LVO） improves the definition of endocardium in two-dimensional echocardiography （2DE）. This study was aimed to determine whether LVO offered added diagnostic value in noncompaetion of left ventricular myocardium （NCVM）. A total of 85 patients （40± 20 years, 54 males） with suspected NCVM were subjected to transthoracic 2DE and LVO, and 40 healthy volunteers were examined with 2DE and assigned as control subjects. The location of NCVM, the thickness ratio of noncompacted to compacted myocardium （NCR）, and the cavity size and ejection fraction of LV were quantified. Results revealed that NCVM was mainly located in the LV medium （53.2%）, apical （46.2%） segments, and lateral wall （39.8%）. The NCR obtained through LVO was greater than that detected through 2DE （4.2 ±1.3 vs. 3.3 ±1.2, P 〈 0.001）, and higher inter-correlations and less intra- and inter-observer variabilities were determined in the former than in the latter. The NCVM detection rates were also increased from 63.5% via 2DE to 83.5% via LVO and 89.4% via 2DE combined with LVO （2DE ＋ LVO） （P = 0.0004）. The LV cavity size was greater and the LV ejection fraction （LVEF） was lower in the NCVM patients than in the control group （P 〈 0.01）. In the NCVM group, the LV cavity size was higher and the LVEF was lower in LVO than in 2DE （P 〈 0.01）. In conclusion, contrast echocardiography contributes significant sensitivity and reproducibility to routine transthoraeic echoeardiography in NCVM diagnosis. Therefore, this technique should be clinically performed to diagnose suspected NCVM.展开更多
Left ventricular noncompaction(LVNC)is a heterogeneous disorder with undlear genetic causes and an unknown mechanism.elF3a,an important member of the Eukaryotic translation initiation factor 3(elF3)family,is involved ...Left ventricular noncompaction(LVNC)is a heterogeneous disorder with undlear genetic causes and an unknown mechanism.elF3a,an important member of the Eukaryotic translation initiation factor 3(elF3)family,is involved in multiple biological processes,indluding cell prolif eration and migration during myocardial development,suggesting it could play a role in LVNC development.To investigate the association between a novel variant(C.1145 A->G)in elF3a and LVNC,and explore potential mechanisms that could lead to the development of LVNC.A novel elF3a variant,C.1145 A->G,was identified by whole-exome sequencing in a familial pedigree with LVNC.Adenovirus vectors containing wild-type elF 3a and the mutated version were constructed and co-infected into H9C2 cells.Cell proliferation,apoptosis,cell migration,and differentiation,as well as phosphorylation of ERK1/2 were stud-ied and were measured by proliferation assays,flow cytometry,real-time PCR and Westem blot,respectively.The elF3a mutation inhibited the proliferation of H9C2 cells,induced apoptosis,promoted cell migration,and inhibited the dif ferentiation of human induced plurip-otent stem cell-derived cardiomyocytes(hiPSC-CMs).The effect of the elF3a mutation may be attributed to a decrease in expression of p-ERK1/2.A novel elF3a gene mutation disrupted the p-ERK1/2 pathway and caused decreased myocardium proliferation,differentiation,acceler-ated migration.This finding may provide some insight into the mechanism involved in LVNC development.展开更多
文摘BACKGROUND Left ventricular noncompaction(LVNC)is a genetic cardiomyopathy.It is characterized by intensely developed trabeculae in the ventricles with deep intertrabecular lacunae.LVNC manifests as arrhythmias and heart failure with a predisposition for thrombus formation.AIM To study predictors of arrhythmic,thromboembolic events and adverse outcomes(death/transplantation)in adult patients with LVNC.METHODS Adult patients with LVNC were included(n=125;mean follow-up:14 months).Electrocardiography,echocardiography,and 24-hour electrocardiography monitoring were performed.Other procedures were conducted for some patients including:Coronary angiography;cardiac magnetic resonance imaging;cardiac computed tomography;genetic testing;myocardial pathological examination;and anti-cardiac antibody level estimation.Primary endpoints were death,heart transplantation,combined endpoint(death+transplantation),and sudden cardiac death.Secondary endpoints were intracardiac thrombosis,embolic events,myocardial infarction,sustained ventricular tachycardia(VT),and implantable cardioverter-defibrillator intervention.RESULTS LVNC manifestations included non-sustained VT,thrombosis/embolism,sustained VT, and sudden cardiac death. Non-sustained VT was associated with the New York Heart Association(NYHA) chronic heart failure (CHF) class, poor R-wave progression, superimposed myocarditis, and highermortality. Thrombosis/embolism was associated with NYHA CHF class ≥ 3, right ventricular end-diastolicdiameter ≥ 3 cm, right atrium volume ≥ 67 mL, left ventricle end-diastolic diameter ≥ 6.3 cm, and velocity timeintegral ≤ 11.2 cm. Sustained VT was associated with premature ventricular contractions (PVCs), low QRS voltage,and atrioventricular block. PVCs > 500/day were predictive of defibrillator intervention. Fatal outcomes wereassociated with E wave/A wave ratio > 1.9, left ventricle ejection fraction < 35%, NYHA CHF class ≥ 3, VT, andmyocarditis.CONCLUSIONFrequent PVCs, non-sustained VT, low QRS voltage, and signs of systolic dysfunction on echocardiogram arepredictors of life-threatening events in patients with LVNC.
文摘We report a 35-year-old female patient with hypertrophic cardiomyopathy, left ventricular noncompaction, and Wolff-Parkinson-White EKG pattern. Several other family members present the same clinical condition. We speculate that this phenotype is related to the genotypes PRKAG2 and LAMP2 represented by mutations of the genes encoding AMP-activated protein kinase (PRKAG2) and lysosome associated membrane protein 2 (LAMP2).
文摘Objectives: To analyse the clinical profile of consecutive cases of Left Ventricular Non Compaction (LVNC) with particular interest in non-compacted segments valuation. Methods: There were 18,000 patients seen from 2007 to 2010, with a complete evaluation including family history and personal cardiac history, clinical examination and electrocardiography. Diagnosis was based on three published definitions. Results: The diagnosis of LVNC was placed in 1.4% of cases. Clinical and echo-cardiographic data for the 250 cases of LVNC are presented. Trabecular meshwork was observed predominantly at the apex (91.6%), in the lateral and inferior wall (40.4% and 38.0% respectively), and less frequently in the posterior and anterior wall (21.6% and 9.2% respectively). Conclusions: This study suggests that LVNC is a form of cardiomyopathy with higher prevalence and relatively better prognosis than previously reported.
文摘Background: Left ventricular noncompaction with multiple left ventricular thrombi can be revealed by echocardiography, and early diagnosis seems to be imperative to prevent significant embolic events. Case Report: A 57-year-old woman presented with symptoms of heart failure. Two-dimensional transthoracic echocardiogram demonstrated a dilated and diffusely hypokinetic left ventricle with severe impaired left ventricular systolic function. Moreover, a markedly thickened endocardium at the left ventricular apex and middle segment with numerous, excessively prominent trabeculations and deep intertrabecular recesses were present. During systole, the ratio of the noncompacted to compacted myocardial layers at the site of the maximal wall thickness was above two, a characteristic finding in left ventricular non-compaction. Multiple mobile, homogeneous, echodense thrombi were identified in the left ventricle, with the largest one in the apical noncompacted segment (dimensions, 32 × 14 mm). Cardiac magnetic resonance imaging confirmed the diagnosis of noncompacted myocardium with the presence of multiple thrombi. After anticoagulant therapy, her symptoms improved and thrombi dissolved. Unexpectedly, she re-admitted to the cardiovascular unit with progressive dyspnea. Transthoracic echocardiogram showed new large right atrial thrombi, with the largest one was 43 × 38 mm compared to the echocardiogram done 11 months ago. The patient was anticoagulated with continuous heparin infusion for several days followed by oral Apixaban. After 4 weeks, the floating thrombi completely disappeared. After a 26-month follow-up, the patient’s condition was stable without embolic complications. Conclusion: Echocardiography was the cornerstone of diagnostic methods for early detecting left ventricular thrombi to eventually prevent embolic events.
基金We are grateful for the support of the staff of the echocardiography laboratories in the Union Hospital, Tongji Medical College, Huazhong University of Science and Technology. This project was funded by the National Natural Science Foundation of China （Nos. 81401429 and 81271582）. Dr. Li Yuan was a Visiting Fellow at Oxford Echo Core Laboratory, University of Oxford, John Radcliffe Hospital and was financially supported by Oxford University Hospitals Charitable Research Fund.
文摘Contrast echocardiography with left ventricular opacification （LVO） improves the definition of endocardium in two-dimensional echocardiography （2DE）. This study was aimed to determine whether LVO offered added diagnostic value in noncompaetion of left ventricular myocardium （NCVM）. A total of 85 patients （40± 20 years, 54 males） with suspected NCVM were subjected to transthoracic 2DE and LVO, and 40 healthy volunteers were examined with 2DE and assigned as control subjects. The location of NCVM, the thickness ratio of noncompacted to compacted myocardium （NCR）, and the cavity size and ejection fraction of LV were quantified. Results revealed that NCVM was mainly located in the LV medium （53.2%）, apical （46.2%） segments, and lateral wall （39.8%）. The NCR obtained through LVO was greater than that detected through 2DE （4.2 ±1.3 vs. 3.3 ±1.2, P 〈 0.001）, and higher inter-correlations and less intra- and inter-observer variabilities were determined in the former than in the latter. The NCVM detection rates were also increased from 63.5% via 2DE to 83.5% via LVO and 89.4% via 2DE combined with LVO （2DE ＋ LVO） （P = 0.0004）. The LV cavity size was greater and the LV ejection fraction （LVEF） was lower in the NCVM patients than in the control group （P 〈 0.01）. In the NCVM group, the LV cavity size was higher and the LVEF was lower in LVO than in 2DE （P 〈 0.01）. In conclusion, contrast echocardiography contributes significant sensitivity and reproducibility to routine transthoraeic echoeardiography in NCVM diagnosis. Therefore, this technique should be clinically performed to diagnose suspected NCVM.
基金This work was supported by the National Natural Science Foundation of China[grant number:81570218].
文摘Left ventricular noncompaction(LVNC)is a heterogeneous disorder with undlear genetic causes and an unknown mechanism.elF3a,an important member of the Eukaryotic translation initiation factor 3(elF3)family,is involved in multiple biological processes,indluding cell prolif eration and migration during myocardial development,suggesting it could play a role in LVNC development.To investigate the association between a novel variant(C.1145 A->G)in elF3a and LVNC,and explore potential mechanisms that could lead to the development of LVNC.A novel elF3a variant,C.1145 A->G,was identified by whole-exome sequencing in a familial pedigree with LVNC.Adenovirus vectors containing wild-type elF 3a and the mutated version were constructed and co-infected into H9C2 cells.Cell proliferation,apoptosis,cell migration,and differentiation,as well as phosphorylation of ERK1/2 were stud-ied and were measured by proliferation assays,flow cytometry,real-time PCR and Westem blot,respectively.The elF3a mutation inhibited the proliferation of H9C2 cells,induced apoptosis,promoted cell migration,and inhibited the dif ferentiation of human induced plurip-otent stem cell-derived cardiomyocytes(hiPSC-CMs).The effect of the elF3a mutation may be attributed to a decrease in expression of p-ERK1/2.A novel elF3a gene mutation disrupted the p-ERK1/2 pathway and caused decreased myocardium proliferation,differentiation,acceler-ated migration.This finding may provide some insight into the mechanism involved in LVNC development.
