Numerous Prominent Trabeculations Research Articles

Clinical Characteristics and Prognosis of Fetal Left Ventricular Noncompaction in Japan.

Left ventricular noncompaction (LVNC) is morphologically characterized by numerous prominent trabeculations and a severely thickened, two-layered myocardium. The fetal onset of LVNC has rarely been described. We conducted nationwide retrospective surveys on fetal cardiomyopathy (CM) in Japan from 2010 to 2016, from which 38 fetal patients with CM were enrolled, including 16 patients with LVNC. The rate of diagnostic concordance was 56.3% between fetal and postnatal visits in LVNC patients. The increase in the ratio of noncompacted to compacted (N/C) myocardium was time-dependent throughout the fetal period till birth (LV lateral: 1.6±0.1 to 2.8±0.2; LV apex: 2.0±0.1 to 3.2±0.2). Of all fetuses, 16 (42.1%) died or underwent heart transplantation (HT), with 3 intrauterine deaths. Lower fetal cardiovascular profile score (odds ratio, 26.9; P=0.0266) was a risk factor for death or HT. N/C ratio ≥1.6 at the apex at the first visit was a significant predictor of LVNC (odds ratio, 47.8; P=0.0113). This is the first study to reveal the etiology of fetal CM based on results from a nationwide survey in Japan, highlighting the difficulty of diagnosing LVNC in fetal patients. To better understand and manage fetal CM, novel diagnostic criteria of LVNC in fetus should be established.

Clinical and Echocardiographic Impact of Tafazzin Variants on Dilated Cardiomyopathy Phenotype in Left Ventricular Non-Compaction Patients in Early Infancy.

Left ventricular non-compaction (LVNC) is a cardiomyopathy morphologically characterized by 2-layered myocardium and numerous prominent trabeculations, and is often associated with dilated cardiomyopathy (DCM). Variants in the gene encoding tafazzin (TAZ) may change mitochondrial function and cause dysfunction of many organs, but they also contribute to the DCM phenotype in LVNC, and the clinical and echocardiographic features of children with this phenotype are poorly understood. Methods and Results: We enrolled 92 DCM phenotype LVNC patients and performed next-generation sequencing to identify the genetic etiology. Ten TAZ variants were identified in 15 male patients (16.3%) of the 92 patients, including 3 novel missense substitutions. The patients with TAZ variants had a higher frequency of early onset of disease (92.3% vs. 62.3%, P=0.0182), positive family history (73.3% vs. 20.8%, P=0.0001), and higher LV posterior wall thickness Z-score (8.55±2.60 vs. 5.81±2.56, P=0.0103) than those without TAZ variants, although the mortality of both groups was similar. This study provides new insight into the impact of DCM phenotype LVNC and emphasizes the clinical advantages available for LVNC patients with TAZ variants.

Non-compaction cardiomyopathy – brief review

Left ventricular non-compaction cardiomyopathy is a genetic disorder characterized by the presence of two myocardial layers with numerous prominent trabeculations and deep inter-trabecular recesses that communicate with the ventricular cavity. The diagnosis is often challenging because excessive trabeculations may also be a normal finding in performance athletes and black people. Echocardiography is the gold standard for diagnosis of this condition, but other useful diagnostic techniques may include cardiac magnetic resonance imaging, computed tomography, and contrast ventriculography. Moreover, newer echocardiographic methods such as three-dimensional imaging and speckle tracking analysis promise to improve the diagnosis of left ventricular non-compaction cardiomyopathy. The purpose of this paper is to review the pathogenesis, diagnosis, and management of this disease.

Aborted sudden cardiac death in a child with left ventricular non‐compaction

Left ventricular non-compaction is a rare form of cardiomyopathy believed to be the result of intrauterine arrest of compaction of the endomyocardial morphogenesis, leading to persistence of the embryonic myocardium. Clinical manifestations are highly variable, ranging from no symptoms to a progressive deterioration in cardiac function that results in congestive heart failure, systemic thromboemboli, arrhythmias, and sudden cardiac death. Presented here is the case of a 4-year-old child with a history of aborted sudden cardiac death. Following resuscitation, he was admitted to the intensive care unit with neurologic sequelae that regressed later on. Transthoracic echocardiography and magnetic resonance imaging showed numerous prominent trabeculations and deep intertrabecular recesses at the apical and anterolateral region of the left ventricle. Electrophysiologic study showed polymorphic ventricular tachycardia. An implantable cardioverter-defibrillator (ICD) was implanted following clinical recovery. Five months after implantation, appropriate ICD shock due to ventricular fibrillation was documented.

Identification of Left Ventricular “Rigid Body Rotation” by Three‐Dimensional Speckle‐Tracking Echocardiography in a Patient with Noncompaction of the Left Ventricle: A Case from the MAGYAR‐Path Study

Noncompaction of the left ventricular myocardium (LVNC) is a new clinical entity firstly described by Engberding and Bender in 1984. LVNC is characterized by the presence of numerous prominent trabeculations and deep intertrabecular recesses within the left ventricle. Recently, it has been demonstrated by two-dimensional (2D) speckle-tracking echocardiography (STE), that left ventricular (LV) basal and LV apical rotations are in the same direction resulting in the near absence of LV twist in LVNC patients, which was called as "LV solid/rigid body rotation." Three-dimensional (3D)-STE has just been introduced, and found to be an accurate method for the evaluation of LV rotation mechanics. The aim of this report was to confirm LV "rigid body rotation" in an LVNC patient by 3D-STE.

A rare combination of left ventricular noncompaction, patent ductus arteriosus, and persistent left superior vena cava demonstrated by multidetector computed tomography and echocardiography

Noncompaction of the ventricular myocardium (NCM) is a disorder characterized by numerous prominent ventricular trabeculations and deep intertrabecular recesses. It may present in an isolated form or in association with other cyanotic heart diseases, obstructions of the ventricular outflow tract, and anomalies of coronary arteries. We report on a rare combination of NCM, patent ductus arteriosus, and persistent left superior vena cava in a 27-year-old man examined via echocardiography and multidetector computed tomography.

Subendocardial Fibrosis in Left Ventricular Hypertrabeculation-Cause or Consequence?

Left ventricular noncompaction has been classified as a primary cardiomyopathy with a genetic origin. This condition is morphologically characterized by a thickened, two-layered myocardium with numerous prominent trabeculations and deep, intertrabecular recesses. Recently, it has become clear that these pathological characteristics extend across a continuum with left ventricular hypertrabeculation at one end of the spectrum.The histological findings include areas of interstitial fibrosis.We present a case of left ventricular hypertrabeculation which presented as sudden infant death syndrome. Histologically areas of subendocardial fibrosis was prominent and we propose that this entity may be a hidden cause of arrhythmic death in some infants presenting as sudden infant death syndrome., with areas of subendocardial fibrosis as possible arrhythmogenic foci.

Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden death

Left ventricular noncompaction (LVNC) is a cardiomyopathy morphologically characterized by 2-layered myocardium, numerous prominent trabeculations, and deep intertrabecular recesses communicating with the left ventricular cavity. The purpose of this study was to investigate patients with LVNC for possible disease causing mutations. We screened 4 genes ( TAZ, LDB3, DTNA and TPM1) in 51 patients with LVNC for mutations by polymerase chain reaction and direct DNA sequencing. A novel missense substitution in exon 1 of TPM1 (c.109A > G: p.Lys37Glu) was identified in three affected members of a family with isolated LVNC. The substitution brings about a change in amino acid charge at a highly conserved residue and could result in aberrant mRNA splicing. This variant was not identified in 200 normal control samples. Pathologic analysis of a right ventricular myocardial specimen from the proband's maternal aunt revealed endocardial and subendocardial fibrosis with prominent elastin deposition, as well as the presence of adipose tissue between muscle layers, pathologic changes that are distinct from those seen in patients with HCM or DCM. Screening of the proband and her mother for variants in other sarcomeric protein-encoding candidate genes, MYH7, MYBPC3, TNNT2, TNNI3, ACTC, MYL2, and MYL3, did not identify any other non-synonymous variants or variants in splice donor–acceptor sequences that were potentially disease causing. We conclude TPM1 is a potential candidate disease-causing gene for isolated LVNC, especially in patients experiencing sudden death.

Diagnosis and Prognosis of Fetal Cardiomyopathies: A Review

Cardiomyopathies (CM) are a very rare disease in fetuses with a very poor outcome. Only isolated case reports and small case series were reported. According with published studies we will describe the fetal CM starting from their echocardiographic presentation: dilated cardiomyopathy (DCM) with dilatation of either or both ventricles and impaired ventricular function, and hypertrophic cardiomyopathy (HCM) with different degree of disproportionate hypertrophy of the myocardial walls. The term of the "noncompaction" of the left ventricular myocardium, is used in cases with DCM with evidence of numerous prominent trabeculations with deep myocardial recesses. In series of neonates and infant the CM occur in about 2-7%, but probably during the fetal life the prevalence is higher: 6% - 11%. The high intrauterine loss, occurring in one third of affected fetuses, likely accounts for these differences. Fetal echocardiography, B and M-mode, is the main diagnostic tool and it is useful for the therapeutic orientation and to determine the neonatal outcome. A haemodynamic evaluation can be performed by Doppler mode. Systolic and diastolic fetal cardiac function have become part of the routine evaluation of the fetal heart. Cardiomyopathies can be isolated or associated with other cardiac and non cardiac malformations. All the studies confirm a great variability of DCM in the fetal age as for the anatomical and functional forms, etiology and hemodynamic impact with different final outcome. Genetic, metabolic, infective, and cardiac diseases may present with DCM. Ventricular dysfunction may be progressive in utero and after birth, but possibility of improvement or even normalization of the left ventricular dysfunction is known in all forms of DCM, "idiopathic", post infective or in noncompaction of left ventricle. The outcome is worse in presence of fetal hydrops, significant atrioventricular valve regurgitation, for the earlier age at presentation and when diastolic dysfunction is associated with systolic dysfunction. Etiologically primary fetal HCM is a heterogeneous condition that can be the result of intrinsic fetal pathology as well as of extrinsic factors. It can be concentric or asymmetric. Prognosis of infants with HCM associated with maternal diabetes is good while a bad prognosis has been reported in fetuses without diabetic mother. HCM may be evolutive, mainly after birth; otherwise there are also cases that improve or regress completely. Unfortunately, a poor outcome is observed in most, particularly in DCM, with only a few therapeutic options available. Detailed evaluation of fetal and maternal condition provide prognostic information for prenatal counselling and may lead to improved outcome of at least some affected pregnancies.

Successful Fontan completion in a patient with noncompaction myocardium

Noncompaction myocardium is a rare cardiomyopathy that represents numerous prominent trabeculations and deep intertrabecular recesses mainly in the left ventricle (LV).1 The cause of noncompaction myocardium is thought to be abnormal cessation of endomyocardial morphogenesis. Although noncompaction myocardium has been commonly described in association with other structural heart abnormalities,2 few operative outcomes have been reported. We describe a successful surgical case of tricuspid atresia with noncompaction myocardium.

Unusual association between “congenitally corrected transposition of the great arteries” and “noncompaction” of the right systemic ventricle

Congenitally corrected transposition of the great arteries (CCTGA) is a rare and complex congenital anomaly characterized by atrial-ventricular (AV) discordance and ventricular-arterial discordance. Ventricular noncompaction (VNC) is a rare unclassified cardiomyopathy due to the arrest in intrauterine endomyocardial morphogenesis and it is characterized by numerous prominent trabeculations and intratrabecular recesses. We reported the case of a 47-year old female patient. When she was 35-year old an "isolated" CCTGA was diagnosed because of a heart murmur. Since then she attended periodically echocardiograms. She showed us 2 of them where right ventricle apical trabeculation was reported, without any others details. We performed a periodic evaluation in a patient still active, with a 6-month history of mild dyspnea occurring during exertion, no episodes of chest discomfort or palpitation. The ECG showed ectopic atrial rhythm, 83 bpm, normal QRS duration, QS complex in V1-V2 leads. The echocardiogram demonstrated: CCTGA, moderate enlargement and dysfunction of the right systemic ventricle, moderate to severe systemic AV valve regurgitation, severe thinning and dyskinesia of the basal segment of the septum, apical and mid-segments prominent and numerous trabeculations with deep intertrabecular recesses, better showed by color Doppler, in continuity with the ventricular cavity. This case presents some distinctive features: (1) the association between two rare congenital anomalies; (2) Striking right VNC, involving the apex and mid-segments, rarely described in literature; right VNC has been proposed according to the presence of 3 over 4 criteria proposed by Jenni et al. (Heart 86:666-671, 2001); (3) Severe thinning and dyskinesia of the basal segment of the septum, probably related to coronary artery abnormalities frequently described in CCTGA patients.

Successful Cardiac Resynchronization Therapy in a 3-Year-Old Girl With Isolated Left Ventricular Non-Compaction and Narrow QRS Complex

Cardiac resynchronization therapy (CRT) is a new method of treatment for refractory heart failure. However, for children, its indication, efficacy, and long-term prognosis remain unclear. This study describes the use of CRT for a 3-year-old girl with intractable heart failure caused by isolated left ventricular non-compaction (LVNC) with narrow QRS complex. Echocardiography showed diffuse hypokinetic left ventricular (LV) wall motion (ejection fraction =29.3%) with dyssynchrony between the apex, posterior and lateral walls, where numerous prominent trabeculations existed, and severe mitral regurgitation. Biventricular resynchronization using epicardial pacing leads was performed under general anesthesia. Pacing sites for optimal synchronization in the ventricular walls where chosen using tissue Doppler imaging, and AV delay was adjusted to achieve maximal systolic blood pressure and maximal cardiac output. Over a follow-up period of 2 years, she exhibited significant and sustained improvement in LV function and clinical symptoms. BNP levels decreased from 1,960 to 82 pg/ml. QRS duration (103 ms) on ECG did not change after CRT. We conclude that pediatric CRT provides a highly useful adjunct for the treatment of heart failure, even in patients with a narrow QRS duration, and might improve the prognosis of patients with LVNC.

Isolated ventricular noncompaction in patients with chronic renal failure

Isolated ventricular noncompaction is a rare congenital disorder characterized by the presence of numerous prominent trabeculations and deep intratrabecular recesses which communicate with the ventricular cavity. This disease has a very bad prognosis. Two cases of isolated ventricular noncompaction in patients with chronic renal failure have been described. The first case is a 65-year-old male, on regular hemodialysis for 3.5 years due to mesangioproliferative glomerulonephritis. He was symptomless regarding signs of congestive heart failure, angina pectoris, systemic embolization or arrhythmia. The second case is a patient with chronic renal failure (due to renal calculosis) admitted because of non-ST elevation acute myocardial infarction. In both cases echocardiography revealed an enlarged left ventricle, with extremely thickened walls with two layers: a thin, compacted myocardium on the epicardial side, and a thicker noncompaction endocardial layer. Ratio between noncompaction part of the wall and compaction part was 2.56 in the first and 4.94 in the second case. Blood flow from the left ventricular cavity into recesses was recorded with Color Doppler. Oral anticoagulation therapy was introduced in both of them. Holter ECG in the first patient revealed an intermittent right bandle branch block and in the second patient, premature ventricular contractions. Neurological examination findings were normal in both patients. Echocardiography of first-degree relatives was performed in the first case and it was normal in all 5 relatives. In the second case it was not performed due to technical reasons (relatives live abroad). Regular echocardiographic follow-up of all patients with chronic renal failure is necessary in order to diagnose cardiovascular comorbidities including this rare abnormality and its complications.

Mutations in Sarcomere Protein Genes in Left Ventricular Noncompaction

Left ventricular noncompaction constitutes a primary cardiomyopathy characterized by a severely thickened, 2-layered myocardium, numerous prominent trabeculations, and deep intertrabecular recesses. The genetic basis of this cardiomyopathy is still largely unresolved. We speculated that mutations in sarcomere protein genes known to cause hypertrophic cardiomyopathy and dilated cardiomyopathy may be associated with left ventricular noncompaction. Mutational analysis in a cohort of 63 unrelated adult probands with left ventricular noncompaction and no other congenital heart anomalies was performed by denaturing high-performance liquid chromatography analysis and direct DNA sequencing of 6 genes encoding sarcomere proteins. Heterozygous mutations were identified in 11 of 63 samples in genes encoding beta-myosin heavy chain (MYH7), alpha-cardiac actin (ACTC), and cardiac troponin T (TNNT2). Nine distinct mutations, 7 of them in MYH7, 1 in ACTC, and 1 in TNNT2, were found. Clinical evaluations demonstrated familial disease in 6 of 11 probands with sarcomere gene mutations. MYH7 mutations segregated with the disease in 4 autosomal dominant LVNC kindreds. Six of the MYH7 mutations were novel, and 1 encodes a splice-site mutation, a relatively unique finding for MYH7 mutations. Modified residues in beta-myosin heavy chain were located mainly within the ATP binding site. We conclude that left ventricular noncompaction is within the diverse spectrum of cardiac morphologies triggered by sarcomere protein gene defects. Our findings support the hypothesis that there is a shared molecular etiology of different cardiomyopathic phenotypes.

Cardiac magnetic resonance imaging findings in a patient with noncompaction of ventricular myocardium

Noncompaction of ventricular myocardium (NCVM) is a rare cardiomyopathy characterized by numerous prominent trabeculations in the ventricular wall and deep intertrabecular recesses communicating with the ventricular cavity. This article reports a 33-year-old female with a familial history of cardiovascular disease, who presented with shortness of breath and palpitations. Transesophageal echocardiography and cardiac magnetic resonance imaging (MRI) were consistent with the diagnosis of NCVM. The advantages of MRI in depicting both the morphological features and pathological characteristics of NCVM were presented.

The letter of Finsterer and Stollberger was shown to the authors who replied

We would like to express our gratitude and appreciation to the authors of the article ‘Genetic background of the left venricular hypertrabeculation/noncompation with stroke’ for fruitful comments of our manuscript.1 We agree with Finsterer et al. that in a single patient ventricular non-compaction is an acquired phenomenon. In our case of a 3-year-old girl with both chambers affected and heart failure, the disorder has not disappeared after treatment. Two-dimensional echocardiograms disclosed numerous prominent trabeculations in both ventricles with deep intertrabecular recesses and thickened endocardium. The echocardiographic images were diagnostic2 of a restrictive filling pattern. Mitral inflow velocities demonstrated a decrease in E/A ratio, consistent with restrictive left ventricular physiology. The left and right atria were enlarged. (LA-20 mm, Ao-14 mm). Left ventricular systolic function was depressed, with an ejection fraction (EF) of 48–50%. During follow-up, the EF of the left ventricle increased to 60–65% and now to 75%. But the ventricular morphology and restrictive filling pattern did …

Forma isolada do miocárdio não-compactado

Noncompaction of the myocardium (NCM) is a rare congenital heart defect. It was first described 15 years ago, and few cases are published. The purpose of this study is to describe a NCM case. Clinical findings and imaging test results of a 37-year-old female patient with isolated NCM are presented. The patient complained of palpitations; her physical examination revealed extrasystoles, and her 12-lead electrocardiogram showed ventricular bigeminy. Three-dimensional Doppler echocardiography revealed numerous prominent trabeculations with deep intertrabecular recesses with blood flow which communicated with the ventricular cavity, which were more intense in the septal apical region. Cardiac magnetic resonance imaging corroborated the echocardiographic findings. The clinical presentation and the patients laboratory test results confirmed the diagnosis of isolated NCM. The knowledge of the echocardiographic findings of this disease enables an early diagnosis and a more adequate treatment.

Long-term Survival of a Patient with Isolated Noncompaction of the Ventricular Myocardium

Isolated noncompaction of the myocardium (INCM) is a rare, congenital, unclassified cardiomyopathy. It is caused by a disorder in endomyocardial morphogenesis in the absence of other structural disease. INCM is characterized by numerous prominent trabeculations and deep intertrabecular recesses in the myocardium. Frequently, INCM is associated with an increased incidence of heart failure, arrhythmias, and cardioembolic events with high morbidity and mortality. We describe a 28-year-old woman experiencing symptoms of heart failure since she was 4 years old. She had been intensively investigated and misdiagnosed as having dilated, restrictive, and apical hypertrophic cardiomyopathies. Cardiac magnetic resonance and echocardiography recently revealed the actual diagnosis of INCM. The patient is alive and well, taking vasodilators and warfarin. Herein, we describe the long-term follow-up of this patient and demonstrate that some patients have a favorable prognosis. In addition, the improvement in noninvasive cardiac imaging has revealed a higher prevalence of INCM, previously undetected.

Noncompaction of Ventricular Myocardium in a Patient with Congenitally Corrected Transposition of the Great Arteries Treated Surgically: Case Report

Noncompaction of the ventricular myocardium is a rare disorder that represents numerous prominent trabeculations and intratrabecular recesses in the ventricles. It is believed to represent not only an arrest in endomyocardial morphogenesis but also an unclassified cardiomyopathy. The pathology has been almost invariably associated with other congenital cardiac malformations. A female patient with noncompaction of the myocardium of both ventricles and congenitally corrected transposition of the great arteries (cTGA), situs inversus totalis, and atrial and ventricular septal defects is described. When she was 7 days old a permanent pacemaker was implanted because of complete heart block. Prazosin (Minipress), an alpha-receptor blocker, was administered, and the cardiac ejection fraction showed a striking increase from 20% to 42%. Despite careful and regular follow-up evaluations, the general condition of the patient slowly worsened. Five months after surgery she died of hepatorenal failure and low cardiac output. This case report is thought to be the first description of congenital complete heart block, cTGA, and situs inversus totalis with noncompaction of the myocardium of both ventricles.

Regional Myocardial Systolic Function Assessed by Strain Tissue Doppler Imaging in Patients With Isolated Noncompaction of Left Ventricular Myocardium: A Study of Two Cases

Isolated noncompaction of the left ventricular myocardium (INVM) is associated with a high incidence of heart failure. However, it is difficult to determine accurately left ventricular (LV) systolic function because of the trabeculated ventricles. The purpose of this study was to clarify whether strain imaging could detect regional myocardial systolic function in 2 patients with INVM. We recorded myocardial strain profiles at the basal, mid-, and apical portions of the LV free wall and ventricular septum (VS) in the apical LV long-axis view. Case 1 (15-year-old male) was referred to our hospital because of ECG abnormalities. Case 2 (83-year-old female) was admitted to our hospital for congestive heart failure. Two-dimensional echocardiography in both patients showed numerous prominent trabeculations and deep intertrabecular recesses at the apex of the LV wall. Because of the trabeculations, it was difficult to determine accurately LV ejection fraction by 2-dimensional echocardiography. The percent fractional shortening of the LV (%FS) in both cases was within a normal range. However, the peak systolic strains at the apical, mid-, and basal portions of the LV free wall were lower in Case 2 (-12, -12, and -11%, respectively) than in Case 1 (-33, -37, and -37%, respectively). The peak systolic strains at the apical, mid-, and basal portions of the VS were also lower in Case 2 (-11, -16, and -11%, respectively) than in Case 1 (-27, -27, and -29%, respectively). We conclude that strain measurements are useful for evaluating regional myocardial systolic function in patients with INVM.