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Left ventricular hypertrabeculation/noncompaction (LVHT) is a cardiac abnormality of unknown etiology. Aim of the review was to summarize the current knowledge about fetal LVHT, including clinical presentation, associated cardiac and extracardiac abnormalities and outcome. In 88 cases, LVHT was diagnosed by fetal echocardiography. In 36 %, no additional cardiac abnormalities were reported; in the remaining 64 %, one or more cardiac abnormalities were reported. Eight cases died prenatally, 17 were electively terminated, and 24 patients died after birth. Six patients were lost to follow-up, and 33 patients are alive at a mean age of 26 months. Surviving cases presented less frequently with fetal hydrops (13 vs. 62 %, p = 0.0004), complete heart block (27 vs. 78 %, p = 0.0076), more than three associated cardiac abnormalities (9 vs. 47 %, p = 0.0008) and more frequently with isolated LVHT (52 vs. 19 %, p = 0.009) than cases who died. Of the surviving patients, 16 received pharmacotherapy, three received pacemakers, eight underwent surgical procedures and four underwent heart transplantation. Postnatal regression of left ventricular hypertrophy and development of LVHT was found in four cases, improvement in cardiac function in two, and regression of right VHT in two. At autopsy, endocardial fibrosis was the most frequent abnormality in 92 %. Thirty-eight percentage of cases with fetal LVHT survived. Fetal and postnatal echocardiographic findings challenge the 'embryonic pathogenetic' hypothesis of LVHT. Furthermore, fetal pathoanatomic findings like endocardial fibrosis might play a role in clarifying the still unsolved pathogenesis of LVHT. [ABSTRACT FROM AUTHOR]

Noncompaction of the left ventricle, a genetic cardiomyopathy with a reported incidence of 0.05% to 0.24%, can lead to sudden cardiac death, particularly among children, if left undetected. Because the diagnosis of isolated noncompaction cardiomyopathy (NCM) can be overlooked, its association with other congenital heart diseases (CHDs) makes the diagnosis of NCM even more difficult. This study aimed to assess the impact of NCM on the cardiovascular physiology of children with coexisting CHDs evaluated by cardiovascular magnetic resonance imaging. A case-control study was performed with 12 children (6 patients with combined NCM and CHD and 6 control subjects with isolated CHD). The mean left ventricular end-diastolic and end-systolic volume indices were significantly higher in the CHD patients presenting with NCM than in the CHD patients with no NCM ( P = 0.028). However, no differences were observed for right ventricular end-diastolic and end-systolic volume indices, biventricular ejection fractions, stroke volumes and indices, left ventricular wall thickness, left ventricular fractional shortening, cardiac output, or cardiac index. This study suggests that NCM in children with CHDs increases left ventricular volumes, and larger studies are required to demonstrate other changes (e.g., ejection fraction, stroke volume) that were close to being significant. [ABSTRACT FROM AUTHOR]

Left ventricular noncompaction (LVNC) is a form of cardiomyopathy resulting from a disorder of endomyocardial morphogenesis. It has been associated with significant morbidity and mortality. The aim of this study was to characterize associated cardiac findings in children with LVNC and to identify risk factors associated with increased mortality. From our echocardiography database, we identified 46 patients diagnosed with LVNC between December 1999 and February 2005. The mean age at presentation was 3.6 ± 5.6 years, and the mean duration of follow-up was 1.9 ± 2.1 years. Left ventricular ejection fraction was decreased in 24 patients (52%; mean 39.5% ± 13.1%). Thirty-six patients (78%) had associated cardiac lesions, including atrial septal defect ( n = 16 [35%]), ventricular septal defect ( n = 17 [37%]), patent ductus arteriosus ( n = 14 [30%]), and Ebstein’s anomaly ( n = 5 [11%]). Electrocardiogram abnormalities were found in 80% of patients; most commonly they included left ( n = 15 [43%]) and right ventricular hypertrophy ( n = 19 [54%]). Documented arrhythmias included ectopic atrial rhythm ( n = 2), junctional rhythm ( n = 2), supraventricular tachycardia ( n = 2), and ventricular tachycardia ( n = 1). Overall mortality was 20%, and there was no association with ejection fraction, morphologic defect, or arrhythmia. Mean age at diagnosis in survivors (4.5 ± 6.1 years) was higher than nonsurvivors (0.4 ± 0.7 years) ( p < 0.0001). LVNC is a rarely isolated form of cardiomyopathy, and it is associated with significant additional cardiac abnormalities. Although it does not have an invariably fatal course, early presentation in infancy does carry an increased risk of mortality. [ABSTRACT FROM AUTHOR]

Significant interest in clinical practice as well as the medical literature exists regarding the presentation and outcome of children and adults with left-ventricular noncompaction (LVNC). The mainstay in the diagnosis of LVNC has been the anatomic definition of the ventricular myocardium by two-dimensional echocardiographic imaging. Although helpful, this approach lacks diagnostic precision and fails to evaluate the functional impact of this abnormal myocardial architecture on global and regional myocardial performance. This review will focus on the use of novel echocardiographic modalities of tissue Doppler, strain, and strain rate imaging to identify and characterize abnormalities of regional myocardial function in patients with LVNC. [ABSTRACT FROM AUTHOR]

We describe the use of cardiac magnetic resonance imaging (CMRI) to determine myocardial viability and subsequently clinical prognosis in a patient with in utero septal myocardial infarction (MI) and dilated cardiomyopathy. MI is most commonly associated with congenital heart disease. These lesions include aortic atresia and stenosis, interrupted aortic arch, hypoplastic left ventricle (LV), and total anomalous pulmonary venous return (TAPVR) [3]. Within the last decade, it has been clearly established that systolic dysfunction is not always a definitive status after MI [10]. In the presence of residual viable myocardium and an adequate myocardial perfusion, contractility might normalize—this process being related to a remarkable prognostic benefit [10]. Until the use of CMRI, myocardial viability has been poorly characterized by other imaging modalities, thus making prognosis difficult to predict. Using myocardial delayed-enhancement CMRI, this patient was shown to have a dilated left ventricle with noncompaction, longitudinal midwall hyperenhancement consistent with nonviable tissue, and severely diminished left ventricular function. In conclusion, CMRI is the only imaging modality that can define anatomy, function, and tissue characterization simultaneously. In the future, CMRI could circumvent the need for more invasive diagnostic procedures in determining the cause and prognosis of patients with dilated cardiomyopathy and myocardial infarction. [ABSTRACT FROM AUTHOR]

Noncompaction of the ventricular myocardium is a rare cardiomyopathy characterized by a pattern of prominent trabecular meshwork and deep intertrabecular recesses. The prevalence of left ventricular noncompaction is 0.01% in adults and 0.14% in pediatric patients. Although the usual site of involvement is the left ventricle, the right ventricle and septum can be affected as well. Previously, right ventricular noncompaction has been described only in a few cases of newborns with congenital heart defects and in adult patients. This report presents a newborn with isolated right ventricular noncompaction. To the authors’ knowledge, this is the first newborn patient with isolated right ventricular noncompaction but no congenital heart defect involving only the right ventricle. [ABSTRACT FROM AUTHOR]

Pierre-Robin sequence or syndrome (PRS) (OMIM #261800) is characterized by a small mandible (micrognathia), posterior displacement/retraction of the tongue (glossoptosis), and upper airway obstruction. It has an incidence varying from 1 in 8,500 to 1 in 30,000 births. Congenital heart defects (CHDs) occur in 20 % of the patients with PRS. Ventricular septal defect, patent ductus arteriosus, and atrial septal defects are the most common lesions. Noncompaction of the ventricular myocardium is a rare cardiomyopathy characterized by a pattern of prominent trabecular meshwork and deep intertrabecular recesses. It is thought to be caused by arrest of the normal endomyocardial morphogenesis. Isolated left ventricular noncompaction (LVNC) in patients with PRS has not been reported previously. This report describes a newborn with PRS and isolated LVNC. Previously, LVNC has been reported in association with mitochondrial disorders, Barth syndrome hypertrophic cardiomyopathy, zaspopathy, muscular dystrophy type 1, 1p36 deletion, Turner syndrome, Ohtahara syndrome, distal 5q deletion, mosaic trisomy 22, trisomy 13, DiGeorge syndrome, and 1q43 deletion with decreasing frequency. Karyotype analysis of the reported patient showed normal chromosomes (46, XX), and a fluorescent in situ hybridization study did not show chromosome 22q11.2 deletion. This is the first clinical report of a patient with isolated LVNC and PRS. Noncompaction of the ventricular myocardium is a rare and unique disorder with characteristic morphologic features that can be identified by echocardiography. Long-term follow-up evaluation for development of progressive LV dysfunction and cardiac arrhythmias is indicated for these patients. [ABSTRACT FROM AUTHOR]

Atrial standstill is a rare form of bradyarrhythmia and consists of a transitory or permanent loss of the electrical and mechanical activity of the atria. It has been described in a few cases of long-standing valvular disease, amyloidosis, myocarditis, and muscular dystrophy. We report on a young female with noncompaction cardiomyopathy that progressed to congestive heart failure. Electrocardiogram showed persistence atrial standstill that was confirmed clinically and by electrocardiomyopathy, Doppler two-dimensional echocardiogram, and tissue Doppler imaging. We assume that worsening of asymptomatic noncompaction and progression to the congestive form of cardiomyopathy could be presaged by the presence of persistent atrial standstill. Thus, persistence of atrail standstill in asymptomatic cardiomyopathy is a sign of poor prognosis. [ABSTRACT FROM AUTHOR]