Noncompaction Cardiomyopathy-History and Current Knowledge for Clinical Practice.

Noncompaction cardiomyopathy (NCCM) has gained increasing attention over the past twenty years, but in daily clinical practice NCCM is still rarely considered. So far, there are no generally accepted diagnostic criteria and some groups even refuse to acknowledge it as a distinct cardiomyopathy, and grade it as a variant of dilated cardiomyopathy or a morphological trait of different conditions. A wide range of morphological variants have been observed even in healthy persons, suggesting that pathologic remodeling and physiologic adaptation have to be differentiated in cases where this spongy myocardial pattern is encountered. Recent studies have uncovered numerous new pathogenetic and pathophysiologic aspects of this elusive cardiomyopathy, but a current summary and evaluation of clinical patient management are still lacking, especially to avoid mis- and overdiagnosis. Addressing this issue, this article provides an up to date overview of the current knowledge in classification, pathogenesis, pathophysiology, epidemiology, clinical manifestations and diagnostic evaluation, including genetic testing, treatment and prognosis of NCCM.

Interobserver Agreement of the Echocardiographic Diagnosis of LV Hypertrabeculation/Noncompaction.

OBJECTIVES: The aim of the study was to assess interobserver agreement (IOA) between 3 observers from 2 laboratories. BACKGROUND: IOA of left ventricular hypertrabeculation/noncompaction (LVHT) in adults has only been studied within single echocardiographic laboratories. METHODS: Echocardiographic recordings with and without LVHT were selected and anonymized. The "not-LVHT" cases were matched for age and systolic function. Each observer reviewed the recordings, blinded to the initial diagnosis and the other observers' results. Pre-defined criteria for LVHT were: 1) >3 prominent trabeculae at end-diastole, distinct from papillary muscles, false tendons, or aberrant bands; 2) a noncompacted part of a 2-layered myocardial structure formed by these trabeculations; 3) a ratio of >2:1 of noncompacted to compacted layer at end-systole; and 4) perfusion of the intertrabecular spaces from the ventricular cavity. IOA was estimated using the kappa measure of concordance. RESULTS: Cine-loops of 100 patients (42 women, ages 16 to 92 years), 50 from each center, and 51 with LVHT as the initial diagnosis, were reviewed. The left ventricular end-diastolic diameter was 32 to 78 mm, and ejection fraction, 4% to 88%. The observers agreed about presence (n = 29) or absence (n = 36) of LVHT and disagreed in 35 cases. Agreement was higher among the 2 observers from the same laboratory (kappa 0.793 [95% confidence interval (CI): 0.672 to 0.915]) than from different laboratories (kappa 0.628 [95% CI: 0.472 to 0.784], kappa 0.669 [95% CI: 0.521 to 0.818]). The observers agreed with the initial report of LVHT-presence in 53% and of absence in 67%. By reviewing the discordant cases, consensus was achieved about LVHT presence (n = 8) or absence (n = 16); in 11 cases, the diagnosis remained questionable. Discordance was due to poor image quality, lack of views in different apical planes, aberrant bands and chordae tendineae, abnormally sized or inserting papillary muscles, and localized calcifications of the endocardium. CONCLUSIONS: IOA was substantial for diagnosing LVHT. However, even the application of pre-defined criteria yielded disagreement in 35% of cases; and after mutual review, there were still 11% questionable cases.

Pathomorphologic findings in left ventricular hypertrabeculation/noncompaction of adults in relation to neuromuscular disorders.

BACKGROUND: Aim of this study was to assess pathomorphologic findings (PATHO) in patients with echocardiographically (ECHO) diagnosed left ventricular hypertrabeculation/noncompaction. METHODS: ECHO-criteria for LVHT were: >3 trabeculations, moving synchronously with the compacted myocardium, and forming the noncompacted part of a two-layered myocardium. At autopsy, the hearts were investigated according to the pathologists' preferences. RESULTS: Twelve patients (2 females, age 27-81 years) were included. Seven suffered from neuromuscular disorders, 5 patients were not investigated neurologically. The specimens were acquired after explantation during heart transplantation (n=1), death due to heart failure (n=6), sudden death (n=2), pneumonia (n=2) and stroke (n=1). Eight hearts were investigated without fixation and 4 after formaldehyde fixation. The hearts were opened along the long-axis, in 3 hearts additional short-axis cuts were carried out. At PATHO the trabecular meshwork was better visible in the formaldehyde-fixed hearts than in the fresh hearts. Differentiation from papillary muscles was easier on the long-axis cuts, whereas the two-layered structure was better visible on short-axis cuts. The trabecular pattern was similar in patients with neuromuscular disorders and those who did not undergo neurologic investigation. Subendocardial fibrosis was found in each case. Due to the complex three-dimensional geometry, it was impossible to count the number of trabeculations. CONCLUSION: Formaldehyde-fixation should be performed when comparing ECHO with PATHO findings in LVHT. Long-axis as well as short-axis cuts should be carried out in order to assess the course of trabeculations and the extent of the two-layered structure. Subendocardial fibrosis in LVHT deserves further research.

Refinement of echocardiographic criteria for left ventricular noncompaction.

BACKGROUND: Left ventricular hypertrabeculation/noncompaction (LVNC) is a cardiac abnormality whose echocardiographic criteria are still controversial. Cooperation between echocardiographic laboratories may contribute to uniformly accepted criteria, as illustrated by the following pilot study. METHODS AND RESULTS: Echocardiograms proposed for inclusion into a registry were reviewed. Three experts with 17-26 years experience with LVNC agreed on a common definition of LVNC: 1. >3 prominent trabeculous formations along the left ventricular endocardial border visible in end-diastole, distinct from papillary muscles, false tendons or aberrant bands; 2. trabeculations move synchronously with the compacted myocardium, 3. trabeculations form the noncompacted part of a two-layered myocardial structure, best visible at end-systole; and 4. perfusion of the intertrabecular spaces from the ventricular cavity is present at end-diastole on color-Doppler echocardiography or contrast echocardiography. During 3 sessions 115 cases (37% females, mean 57 years) were reviewed. Eleven patients (18% females, mean 60 years) were excluded because of <4 trabeculations (n=5), lack of a two-layered myocardial structure (n=1) and poor image quality (n=5). The observers agreed on inclusion or exclusion in all cases. Consensus was achieved that measurements of the thickness of the myocardial layers, and calculation of the noncompacted:compacted ratio is not feasible due to a lack of uniformly accepted standards for measurements. CONCLUSIONS: When diagnosing LVNC, end-systolic as well as end-diastolic images have to be considered. The presence of more than three trabeculations as well as a two-layered myocardium are required. Since these criteria are not anatomically controlled, a comparison of echocardiographic images with pathoanatomic findings for assessing sensitivity and specificity is urgently needed.

Isolated non-compaction cardiomyopathy.

BACKGROUND: Isolated non-compaction cardiomyopathy (NCCM) was first described in 1984. This disorder, a primary genetic cardiomyopathy, is now attracting increased attention. METHOD: The current state of the epidemiology, pathogenesis, pathophysiology, clinical features, diagnosis, treatment, and prognosis of NCCM are discussed on the basis of a review of selected literature as well as the authors' personal experience. RESULTS: The pathogenesis of NCCM is thought to involve a genetically determined disturbance of the myocardial compaction process during fetal endomyocardial morphogenesis. It is not accompanied by any other cardiac anomalies. Echocardiography is the diagnostic method of choice. The diagnosis is based on the following echocardiographic criteria: the presence of at least 4 prominent trabeculations and deep intertrabecular recesses, blood flow from the ventricular cavity into the intertrabecular recesses, and a typical bilaminar structure of the affected portion of the left ventricular myocardium. NCCM can also be diagnosed with magnetic resonance imaging of the heart. The clinical severity of NCCM is variable; its manifestations include heart failure, thromboembolic events, and arrhythmias. The treatment is symptom-based. Patients with symptomatic NCCM have a poor prognosis. CONCLUSION: NCCM is a type of cardiomyopathy that was first described 25 years ago. Its molecular genetic basis is not yet fully clear, and the same is true of its diagnosis, treatment, and prognosis. Further study of these matters is needed.

Prevention of atrial fibrillation after cardioversion: results of the PAFAC trial.

AIMS: In patients with persistent atrial fibrillation (AF), the efficacy and safety of two anti-arrhythmic drugs in preventing the recurrence of AF after successful direct current (DC) cardioversion was prospectively assessed in a multi-centre double-blind, placebo-controlled, randomised trial using daily trans-telephonic monitoring. METHODS AND RESULTS: 1182 patients with persistent AF were prospectively enrolled, 848 patients were successfully cardioverted and then randomised to either sotalol (383 patients), quinidine plus verapamil (377 patients) or placebo (88 patients). The primary outcome parameter was AF recurrence or death. All patients received an event recorder (Tele-ECG) and had to record and transmit via telephone at least one ECG per day during follow-up. The mean follow-up period was 266 days. A total of 191,103 Tele-ECGs were recorded and transmitted. The primary outcome parameter (AF recurrence of any kind or death) was observed in 572 patients (67%) in whom at least one episode of AF recurrence was documented during follow-up, in 348 patients (41%) AF recurrence was persistent. The recurrence rates after one year for any AF were 83% for placebo, 67% for sotalol and 65% for quinidine plus verapamil, the latter being statistically superior to placebo but not different from sotalol. The recurrence rates for the secondary outcome parameter persistent AF were 77%, 49% and 38%, respectively. Quinidine plus verapamil was significantly superior to placebo and to sotalol. About 95% of all AF recurrences were initially detected in the daily Tele-ECG, about 70% of all AF recurrences occurred completely asymptomatic. Adverse events on sotalol and quinidine plus verapamil were comparable with the exception that all torsade de pointes tachycardias occurred on sotalol. CONCLUSION: Anti-arrhythmic treatment after DC cardioversion of persistent AF significantly decreases the recurrence rates of persistent AF compared to placebo with superiority of quinidine plus verapamil compared to sotalol. Symptoms were not reliable as clinical surrogates to detect episodes of AF.

Mixoma de ventrículo izquierdo: diagnóstico mediante ecocardiografía bidimensional / Myxoma of the left ventricle: echocardiographic diagnosis: case report

We reported a patient who presented with focal neurologic findings. Bidimensional echocardiography disclosed a mass with aspect of myxoma located in the left ventricle. Surgical excission allowed confirmation of the diagnosis