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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

[Congenital left ventricular aneurysms and diverticula. Pathophysiology, clinical relevance, and treatment]. / Kongenitale linksventrikuläre Aneurysmata und Divertikel des Erwachsenen. Pathophysiologie, klinische Präsentation und Therapieoptionen.

A congenital left ventricular aneurysm or diverticulum is a rare cardiac malformation described in 418 cases since the first description in 1816, being associated with other cardiac, vascular or thoracoabdominal abnormalities in about 75%. It appears to be a developmental anomaly, starting in the 4th embryonic week. Diagnosis can be made after exclusion of coronary artery disease, local or systemic inflammation or traumatic causes as well as cardiomyopathies. Clinically, most congenital left ventricular aneurysms and diverticula are asymptomatic, but some of them may cause systemic embolization, heart failure, valvular regurgitation, ventricular wall rupture, ventricular tachycardia, or sudden cardiac death. Diagnosis is established by imaging studies such as echocardiography, magnetic resonance imaging or left ventricular angiography, visualizing the structural changes and accompanying abnormalities. Mode of treatment has to be individually tailored and depends on clinical presentation, accompanying abnormalities and possible complications, options include surgical resection, especially in symptomatic patients, anticoagulation after systemic embolization, radiofrequency ablation or implantation of a cardioverter defibrillator in case of symptomatic ventricular tachycardias, occasionally combined with class I or III antiarrhythmic drugs. Because of the usually benign course of congenital left ventricular aneurysms and diverticula in the adulthood, most of them can be managed conservatively.

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.

Dutch survey of congenital coronary artery fistulas in adults: coronary artery-left ventricular multiple micro-fistulas multi-center observational survey in the Netherlands.

BACKGROUND: Congenital coronary artery-left ventricular multiple micro-fistulas (CA-LVMMFs) in adults are rare anomalies. They may cause angina pectoris and myocardial infarction in association with normal coronary arteries. METHODS AND RESULTS: From the medical databases of a Dutch Survey of coronary artery fistulas in adult cardiology population (30,829 patients), we identified 20 patients with CA-LVMMFs out of 71 fistula-subjects between 1996 and 2003. Clinical files and individual coronary angiograms were reviewed and analysed. There were 13 females and 7 males with a mean age of 67.3 years (range 49-82). The main presenting symptoms were angina pectoris and dyspnea in 70% of the patients. The ECG showed pathologic changes in 75%. Exercise tolerance test and 201-thallium stress scintigraphy were positive for myocardial ischemia in 29% and 50%, respectively of the tested patients. In the absence of significant atherosclerotic coronary artery disease, ipsilateral to the fistulas, myocardial infarction was documented in 15% of the patients. Chest X-ray revealed cardiomegaly in 38% of the patients. Congestive heart failure was documented in 10% of the patients. Uni-, bi- and multilateral fistulas were present in 50%, 45% and 5%, respectively. The origin was the LCA in 71% and the RCA in 29% of the fistulas. The majority (97%) originated from the mid or distal segments of the coronary vessels. Among those patients, the coronary arterial tree had single, dual, and triple vessel disease in 25%, 15% and 5%, respectively. Angiographic anatomy precludes surgical intervention; they were all followed by conservative medical management. CONCLUSIONS: Coronary artery-left ventricular multiple micro-fistulas are found more often in female patients. Furthermore, they originated from the distal segment of the coronary arteries. Coronary artery-left ventricular multiple micro-fistulas, in the presence of normal coronary arterial tree, may often lead to angina pectoris and coronary insufficiency.

[Anesthetic management for Cesarean section in a patient with left ventricular noncompaction].

Left ventricular noncompaction (LVNC) is a rare disease characterized by heart failure, arrhythmia, and embolic events. We report anesthetic management of a pregnant woman with LVNC. At 24 weeks gestation of the first pregnancy, the patient was scheduled for Cesarean section. Preoperatively the patient had symptomatic heart failure, and was anesthetized with propofol and fentanyl aiming at stable intraoperative hemodynamics. About 2 years later, the patient also underwent cesarean section under spinal anesthesia at 34 weeks gestation of the second pregnancy, because her cardiac function was almost normal and she was not receiving anticoagulant therapy. Both perioperative courses were uneventful. Careful preoperative assessment and close anesthetic planning are necessary.

Familial left ventricular hypertrabeculation in two blind brothers.

So far, left ventricular hypertrabeculation (LVHT) has been described to occur only sporadically. In a 49-year-old man with Leber's hereditary optic neuropathy (LHON) due to the primary LHON mutation G3460A, arterial hypertension was reported since 2000 and palpitations since 1995. ECG revealed Wolff-Parkinson-White syndrome. Transthoracic echocardiography and cardiac MRI showed myocardial thickening and LVHT. Pindolol markedly improved the cardiac abnormalities. Surprisingly, LVHT was also found in the 50-year-old brother of the index patient who also had LHON and also carried the G3460A mtDNA mutation. This brother also had Wolff-Parkinson-White syndrome and myocardial thickening, but without hypertension. It is concluded that LVHT, previously described to occur only sporadically, may be hereditary in single cases.

Noncompaction of the ventricular myocardium associated with mitral regurgitation and preserved ventricular systolic function.

Noncompaction of the ventricular myocardium is an embryonic cardiomyopathy that is increasingly being recognized. Mitral regurgitation, when present, is usually a result of the associated left ventricular systolic dysfunction. We report 4 patients with noncompaction of the ventricular myocardium in whom ventricular systolic function was preserved. Mitral regurgitation was associated with changes in the mitral valve leaflets and an abnormal coaptation pattern. This association of noncompaction of the ventricular myocardium with mitral regurgitation has not, to our knowledge, been reported.

Is cardiac catheterization a prerequisite in all patients undergoing bidirectional cavopulmonary anastomosis?

Traditionally, all patients undergo cardiac catheterization before bidirectional cavopulmonary anastomosis (BCPA). The purpose of this study was to determine if preoperative catheterization is necessary when echocardiographic parameters appear favorable. A retrospective review was performed of all patients who underwent BCPA (n = 142) between February 1996 and May 2001. Echocardiographic criteria defining a favorable BCPA candidate included good ventricular function, moderate or less atrioventricular and semilunar valve regurgitation, absence of ventricular outflow tract obstruction, normal proximal branch pulmonary artery (PA) size, and low PA pressures estimated by PA band gradient or systemic PA shunt velocity. The median age at operation was 7 months (range: 2-11) and weight was 6.2 kg (range: 2.7-7.1). There were 73 unfavorable candidates. Patients with hypoplastic left heart syndrome (n = 23) and pulmonary atresia with intact septum (n = 15) predominated among the unfavorable group. All patients were catheterized. This provided additional information on PA pressures in 3 patients in the favorable group but did not defer operation or influence outcome (no mortality, prolonged pleural drainage, or longer intensive care department stay). All 3 patients are alive at a mean follow-up of 51 months. The 30-day mortality was 2% (4 of 151 patients), all in the unfavorable group. Overall, 20 patients (13%) required arterioplasty of PAs at the time of BCPA. BCPA can be performed with a low risk of morbidity and mortality in a wide range of patients. By using commonly acquired echocardiographic parameters, a low-risk subgroup of patients can be identified who can safely avoid preoperative cardiac catheterization.