Determination of Fetal Left Ventricular Volume Based on Two-Dimensional Echocardiography.

Determination of fetal left ventricular (LV) volume in two-dimensional echocardiography (2DE) is significantly important for quantitative analysis of fetal cardiac function. A backpropagation (BP) neural network method is proposed to predict LV volume more accurately and effectively. The 2DE LV border and volume are considered as the input and output of BP neural network correspondingly. To unify and simplify the input of the BP neural network, 16 distances calculated from the border to its center with equal angle are used instead of the border. Fifty cases (forty frames for each) were used for this study. Half of them selected randomly are used for training, and the others are used for testing. To illustrate the performance of BP neural network, area-length method, Simpson's method, and multivariate nonlinear regression equation method were compared by comparisons with the volume references in concordance correlation coefficient (CCC), intraclass correlation coefficient (ICC), and Bland-Altman plots. The ICC and CCC for BP neural network with the volume references were the highest. For Bland-Altman plots, the BP neural network also shows the highest agreement and reliability with volume references. With the accurate LV volume, LV function parameters (stroke volume (SV) and ejection fraction (EF)) are calculated accurately.

Coexistence of congenital left ventricular aneurysm and prominent left ventricular trabeculation in a patient with LDB3 mutation: a case report.

BACKGROUND: The coexistence of congenital left ventricular aneurysm and abnormal cardiac trabeculation with gene mutation has not been reported previously. Here, we report a case of coexisting congenital left ventricular aneurysm and prominent left ventricular trabeculation in a patient with LIM domain binding 3 gene mutation. CASE PRESENTATION: A 30-year-old Asian man showed paroxysmal sinus tachycardia and Q waves in an electrocardiogram health check. There were no specific findings in physical examinations and serological tests. A coronary-computed tomography angiography check showed normal coronary artery and no coronary stenosis. Both left ventricle contrast echocardiography and cardiac magnetic resonance showed rare patterns of a combination of an apical aneurysm-like out-pouching structure with a wide connection to the left ventricle and prominent left ventricular trabecular meshwork. High-throughput sequencing examinations showed a novel mutation in the LDB3 gene (c.C793>T; p.Arg265Cys). CONCLUSIONS: Our finding indicates that the phenotypic expression of two heart conditions, congenital left ventricular aneurysm and prominent left ventricular trabeculation, although rare, can occur simultaneously with LDB3 gene mutation. Congenital left ventricular aneurysm and prominent left ventricular trabeculation may share the same genetic background.

Left heart abnormalities in connective tissue disease patients with pre-capillary pulmonary hypertension as well as borderline mean pulmonary arterial pressure.

OBJECTIVE: To describe co-existence of left heart abnormalities among case series of connective tissue disease (CTD) patients who showed pre-capillary pulmonary hypertension (PH) as well as borderline mean pulmonary arterial pressure (mPAP). METHODS: From 2010 through 2012, 49 CTD patients suspected to have PH by exercise Doppler echocardiography underwent right heart catheterization. We retrospectively searched for left heart diseases from the available data on Doppler echocardiography, cardiac magnetic resonance imaging (MRI), scintigraphy, and endomyocardial biopsy. RESULTS: Among 49 patients, 11 and 2 had pre- and post-capillary PH, respectively, and another 10 had borderline mPAP. Six of 11 patients with pre-capillary PH showed low pulmonary vascular resistance (PVR) (≤ 240 dynes•sec•cm(- 5)) and low diastolic pulmonary gradient (< 7 mmHg). Seven of 10 patients with borderline mPAP had normal PVR (< 160) suggesting the presence of left heart abnormalities. Other abnormal findings included increased left atrial volume index and E/E' on Doppler echocardiography, delayed contrast enhancement by MRI, patchy area of hypoperfusion on thallium scintigraphy, and fibrosis in endomyocardial biopsy. CONCLUSION: The present case series suggested some contribution of left heart abnormalities to the increase in mPAP among CTD patients with pre-capillary PH as well as borderline mPAP.

Surgery for congenital aortic stenosis in children with left ventricular noncompaction.

Left ventricular noncompaction (LVNC) is an uncommon genetic disorder of endocardial morphogenesis, which carries a high mortality from heart failure or sudden cardiac death. This condition is often first diagnosed in adults, but it has also been described in children with other cardiac anomalies. We discuss the management of a 10-year-old female with congenital aortic stenosis associated with LVNC.

Echocardiographic assessment of ventricular synchrony in congenital and acquired heart disease in children.

Electromechanical dyssynchrony is an important consequence of and contributor to ventricular dysfunction. Echocardiography can be useful to assess the mechanisms underlying mechanical dyssynchrony, to evaluate the impact of mechanical dyssynchrony on ventricular function, and to try to predict the therapeutic response to cardiac resynchronization therapy (CRT). Mechanical dyssynchrony has been demonstrated in several pediatric acquired and congenital cardiac conditions, but experience is still limited. Moreover, the optimal method to identify dyssynchrony remains unclear, and data predicting the response to CRT in pediatrics are lacking. Understanding mechanisms of electromechanical dyssynchrony by echocardiography seems promising, at least in left bundle branch block (LBBB), but may be limited in children due to the uncommon occurrence of LBBB in this population. This review addresses the commonly used methods to diagnose mechanical dyssynchrony, discusses the emerging concepts on the mechanisms of the various types of mechanical dyssynchrony, and discusses the possible significance of mechanical synchrony in pediatric and acquired congenital heart disease.

Single right ventricles have impaired systolic and diastolic function compared to those of left ventricular morphology.

BACKGROUND: Differences in single right ventricle (SRV) and single left ventricles (SLV) function are poorly described, although myocardial dysfunction is an important risk factor for morbidity and mortality. The aims of this study were to compare function between patients with SRVs and those with SLVs using newer echocardiographic techniques and to determine differences across staged palliation. METHODS: In this cross-sectional study comparing 30 patients with SRVs and 30 with SLVs of similar ages (2.5 ± 1.7 vs 2.6 ± 1.6 years), patients were matched for surgical stage (20 pre-bidirectional cavopulmonary anastomosis, 20 pre-Fontan, and 20 post-Fontan patients). Circumferential and longitudinal strain, strain rate (SR), early diastolic SR, postsystolic strain index, and myocardial dyssynchrony index were measured. Comparisons between SRV and SLV parameters were made as a whole group and by subanalysis at each surgical stage. RESULTS: Patients with SRVs had reduced systolic SRs (circumferential: -1.0%/sec vs -1.2%/sec, P = .01; longitudinal: -1.1%/sec vs -1.3%/sec, P = .002), reduced early diastolic SRs (circumferential: 1.4%/sec vs 1.9%/sec, P = .03; longitudinal: 1.6%/sec vs 2.2%/sec, P = .001), and increased circumferential postsystolic strain indexes (8% vs 0%, P < .0001). Subanalysis at each surgical stage showed that the greatest disparity in systolic parameters occurred before bidirectional cavopulmonary anastomosis (longitudinal SR, P = .009; postsystolic strain index, P = .005) and that parity was regained after the Fontan procedure, while traditional diastolic parameters (E velocity, P = .004; E/E' ratio, P = .0003) were reduced in patients with SRVs after the Fontan procedure. CONCLUSIONS: The SRV has reduced contractility and diastolic function compared with the SLV. Ventricular systolic performance in patients with SRVs was poorest before bidirectional cavopulmonary anastomosis, while differences in diastolic function were more prominent after Fontan completion.

Multi-modality imaging of an unusual congenital left ventricular diverticulum.

The authors describe the case of a newborn presenting with a pulsatile abdominal mass that was subsequently diagnosed as a large congenital muscular left ventricular diverticulum. This case illustrates the role of multimodality imaging in the diagnosis and surgical planning of this rare congenital heart disease. The diverticulum was managed with surgical resection without the use of cardiopulmonary bypass. Unlike in previous case reports, this patient did not have any associated intracardiac defect.

Prevalence and spectrum of abnormal electrocardiograms in patients with an isolated congenital left ventricular aneurysm or diverticulum.

AIMS: Congenital left ventricular aneurysm (LVA) and diverticulum (LVD) are rare cardiac anomalies and can be associated with ECG abnormalities and rhythm disturbances. We sought to investigate the prevalence and the spectrum of ECG abnormalities in such patients. METHODS AND RESULTS: We assessed 125 patients with isolated LVA or LVD for the prevalence of ECG abnormalities and compared the findings to an age- and gender-matched control group. The 12-lead ECG patterns were evaluated according to commonly used criteria and were classified into three subgroups (distinct, mildly, and minor). Fifty-four of the 125 patients (43.2%) had normal and 71 (56.8%) abnormal ECGs. Mean age was 66 years. Forty-nine (39.2%) were male. Distinct abnormal ECG patterns were more prevalent in patients with LVD (38.2 vs. 15.8%, P = 0.04), and apical location of the anomaly (36.6 vs. 16.6%, P = 0.02). Older age (>66 years) was associated with a trend for a higher prevalence of abnormal ECG pattern (33 vs. 18%, P = 0.06), whereas gender had no influence (32 vs. 16%, P = 0.14). This study also shows that the sensitivity, specificity, positive predictive value and negative predictive value of a 12-lead ECG for the diagnosis of LVA or LVD are low. CONCLUSION: This large single-centre study suggests that the prevalence of abnormal ECG patterns in patients with isolated LVA or LVD is as high as 56.8%. However, ECG is not specific and sensitive to be used as a screening tool in such patients.

Early left ventricular structural myocardial alterations and their relationship with functional and electrical properties of the heart in myotonic dystrophy type 1.

BACKGROUND: Conduction disturbances and arrhythmias characterize the cardiac feature of myotonic dystrophy type 1 (MD1), and a myocardial involvement has been suggested as part of the cardiac disease. The aim of the study was to investigate the role of novel ultrasonic techniques, such as integrated backscatter (IBS) and color Doppler myocardial imaging (CDMI), in the assessment of the subclinical functional and structural myocardial involvement in patients with MD1. METHODS: Thirty-one patients with MD1 (MD1 group) without known heart failure were evaluated and compared with 31 healthy, age-matched controls. In all patients, 19 conventional and 28 new echocardiographic parameters (14 tissue Doppler, 10 CDMI, and 4 IBS indexes) were analyzed. RESULTS: In regard to ultrastructural left ventricular (LV) properties, a significantly higher IBS echointensity was found at the septum level in the MD1 group, with a statistically significant correlation with MPI (myocardial performance index) (r = 0.34; P = .05) and PR interval duration (r = 0.40; P = .05). In regard to LV systolic function, the MD1 group showed an early alteration of systolic function compared with controls, evidenced by a significant higher MPI and lower peak strain, strain rate, and cyclic variation index (CVI). In regard to LV diastolic function, the MD1 group showed an early alteration of diastolic function compared with controls, evidenced by lower tissue Doppler imaging, E/A, and E/A strain rate, with a statistically significant inverse correlation to the muscular disability rating scale. On receiver operating characteristic curve analysis, MPI and CVI showed the highest discriminating ability to differentiate the hearts of patients with MD1 from healthy subjects. CONCLUSION: Highly sensitive ultrasonic techniques can detect early functional and structural alterations of the LV myocardium in patients with MD1.

Left ventricular noncompaction: a rare cause of hydrops fetalis.

We present a case of isolated left ventricular noncompaction (LVNC), a severe congenital cardiomyopathy, which presented in the neonatal period as fetal hydrops. To our knowledge, this is the first child with LVNC presenting with hydrops fetalis to survive infancy. Once considered a uniformly fatal and extremely rare form of cardiomyopathy, LVNC has recently been shown to be more common than previously reported, with a varying range of clinical severity. Although long-term morbidity and mortality are not clearly known, recent work suggests better survivability than once reported.

All cardiac right ventricular outpouches are not created equal.

Congenital right ventricular diverticula and aneurysms are rare. Clinically, a diverticulum is difficult to distinguish from an aneurysm. Four diverse right ventricular cameral defects or right ventricular outpouches (RVOs) are described together with the management of each. Surgery may be necessary if an RVO has thin walls. However, if an RVO is composed of uniform thick contractile walls, conservative follow-up care likely is appropriate.

Possible new syndrome: Left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child.

We report on the clinical, neuropsychological and language characteristics of a boy with left ventricular noncompaction cardiomyopathy (LVNC), agenesis of the splenium of the corpus callosum, minor anomalies of face and limbs, mild mental retardation, and speech and language disabilities. The occurrence of pilomatricoma (calcifying epithelioma) may be part of the clinical spectrum or a fortuitous finding. Compared to other related conditions with LVNC suggests that this is a "new" unique pattern MCA/MR syndrome.

Diastolic function study with conventional and pulsed tissue Doppler echocardiography imaging in acromegalic patients.

UNLABELLED: Acromegaly is associated with myocardial hypertrophy and it can progress to diastolic and systolic dysfunction. PURPOSE: To evaluate diastolic function in acromegalic patients through conventional echocardiography (CD) and tissue Doppler imaging (TDI). METHODS: Seventeen acromegalic patients were submitted to CD and TDI, and early (E) and atriogenic (A) transmitral flow were evaluated in mitral, septal, and tricuspid regions. RESULTS: In comparison with controls the means of conventional (1.06), septal (1.01), and tricuspid (0.98) E/A ratio were significantly lower in acromegalic patients. E/A ratio <1.0 was demonstrated in 41% and 49% of acromegalics by DC and TDI, respectively, with no statistical difference among the two methods. An inverse linear correlation was shown between mitral E/A ratio and acromegalic age (r =-0.7). CONCLUSION: In this study, DC and TDI were equally effective in demonstrating diastolic dysfunction, a common finding in acromegalic patients.

Noncompaction myocardium imaging with multiple echocardiographic modalities.

Noncompaction myocardium of the left ventricle (LV) is a genetically heterogeneous congenital cardiomyopathy, that has only been described during the last two decades. Echocardiography plays a pivotal role as a first line diagnostic tool of this rare abnormality. The present case describes the imaging of the noncompacted myocardium using varying echocardiographic modalities.

Physiology of cardiac pacing in children: the importance of the ventricular pacing site.

Children with congenital or acquired atrioventricular block are provided with ventricular rate support from a pacing lead that traditionally is positioned at the right ventricular (RV) apex. However, RV apical pacing causes dyssynchronous electrical activation and left ventricular (LV) contraction, resulting in decreased LV function. Chronic RV apical pacing leads to deterioration of LV function and morphology, resulting in cardiac failure in approximately 7% of children. This review describes the pathophysiology of pacing-induced dyssynchronous LV activation and contraction, especially as a result of chronic RV apical pacing. Furthermore, this review provides an overview of the possible alternative pacing sites, such as the RV outflow tract, His-bundle, LV apex, and biventricular pacing.

Mechanical dysfunction in extreme QT prolongation.

BACKGROUND: Although cardiac mechanical dysfunction has not been reported in congenital long QT syndrome (LQTS), theoretically abnormal cardiac repolarization may confer a substrate for mechanical dysfunction via calcium overload during the prolonged plateau period. We report the first clinical descriptions of a patient who supports this hypothesis. METHODS: Clinical, electrocardiographic, and echocardiographic evaluations were performed on a newborn presenting to Milwaukee Children's Hospital and subsequently referred to Mayo Clinic's LQTS Clinic. Mutational analysis of the 10 known LQTS-susceptibility genes was performed using denaturing high performance liquid chromatography and DNA sequencing. RESULTS: Presenting with fetal bradycardia from 2:1 atrioventricular block, a male Caucasian infant manifested extreme QT prolongation (QT interval corrected for heart rate: 800 milliseconds), 2:1 atrioventricular conduction, and macroscopic T-wave alternans after birth. At 6 weeks of age, the infant demonstrated 20 seconds of torsades de pointes. The family history was unremarkable, screening electrocardiograms of first-degree relatives revealed normal findings, and mutational analysis of all known LQTS-susceptibility genes was negative. Echocardiographically, the infant demonstrated globally abnormal systolic and diastolic dysfunction before the onset of arrhythmias. CONCLUSIONS: This infantile presentation of QT extremis and cardiac dysfunction provides support for the hypothesis of mechanical perturbations stemming from abnormal repolarization. Future studies are needed to investigate whether or not the typical patient with congenital LQTS exhibits any evidence for mechanical dysfunction.

Myocardial contraction properties along the long and short axes of the left ventricle in isolated left ventricular non-compaction: pulsed tissue Doppler echocardiography.

AIM: Our objective was to evaluate regional systolic myocardial contraction properties along the long and short axes of the left ventricle (LV) in patients with isolated LV non-compaction (IVNC). METHODS AND RESULTS: Pulsed tissue Doppler imaging (TDI) was used to record myocardial velocities along these axes in 25 patients with IVNC (10 asymptomatic-LV ejection fraction [LVEF] > or = 50%; 15 symptomatic-LVEF < 50%) and 15 healthy controls. In all cases, the systolic velocity pattern featured 2 distinct peaks (SW1, SW2). These peak velocities and the intervals from the electrocardiographic Q wave to each peak (Q-SW1, Q-SW2) were recorded for each axis, and group means were calculated. The asymptomatic group displayed significantly higher long axis SW2 and significantly longer long axis Q-SW1 than the controls. The symptomatic group had significantly lower SW1 and SW2 on both axes and significantly longer short axis Q-SW1 than the asymptomatic group and the controls. Long axis Q-SW1 and short axis Q-SW1 in the symptomatic group were significantly longer than the corresponding control findings, but were not significantly different from the corresponding asymptomatic group findings. CONCLUSION: In conclusion, patients with IVNC exhibit distinct systolic myocardial shortening velocities along the long and short axes of the LV. Further, these pulsed TDI findings suggest that asymptomatic patients (those with normal LVEF) have subclinical myocardial dysfunction.