ST-Hebungsinfarkt bei einer 18-jährigen Patientin

Isolated left ventricular non-compaction cardiomyopathy (LVNC) is classified as a rare form of cardiomyopathy and is characterized by prominent trabeculae and deep recesses which appear as thickened myocardium with two layers. Thereby one layer dominates as non-compacted and one as compacted myocardium. Echocardiography is the clinical standard method for LVNC, while several diagnostic criteria exist. In challenging cases cardiac magnetic resonance imaging (MRI) is helpful due to its excellent native contrast between blood and myocardium. Most patients are symptomatic due to chronic heart failure and thromboembolic events and arrhythmia are often noticed during follow-up. No causal therapy is available, hence therapeutic approaches are limited to the management of heart failure and the prevention of thromboembolic events.     

Myocardial ischaemia in children with isolated ventricular non-compaction.

AIMS: Isolated ventricular non-compaction is a rare congenital cardiomyopathy with a high morbidity and mortality due to malignant arrhythmias and pump failure. Areas affected by non-compaction are characterized by increased trabecularization and deep inter-trabecular spaces. We hypothesized perfusion defects in these areas and performed positron emission tomography to evaluate the myocardial perfusion in non-compacted areas. METHODS AND RESULTS: Five children (age 10-14 years) with isolated ventricular non-compaction underwent positron emission tomography using N-13-ammonia as flow marker and intravenous dipyridamole for stress testing. Myocardial blood flow was quantified using the positron emission tomography time-activity curves in non-compacted areas and normal myocardium, which were diagnosed by echocardiography, magnetic resonance imaging, and angiography. Coronary angiography, performed in two children with extensive forms of left ventricular non-compaction, demonstrated normal coronary arteries. Myocardial blood flow measurements at rest and after dipyridamole application demonstrated 16-33% and 32-57% perfusion impairment, respectively, in non-compacted areas compared to normal myocardium. Areas of restricted myocardial perfusion corresponded well to the non-compacted areas, defined echographically and by magnetic resonance imaging. CONCLUSION: Positron emission tomography demonstrates restricted myocardial perfusion and decreased flow reserve in areas of ventricular non-compaction in children. The myocardial perfusion defects in non-compacted areas may be the cause of myocardial damage and possibly form the basis of arrhythmias and pump failure.     

Non-compaction Cardiomyopathy: Prevalence,Prognosis, Pathoetiology,Genetics, and Risk of Cardioembolism

Left ventricular non-compaction (LVNC) is thought to arise from arrest of the normal process of trabecular remodeling or “compaction” that takes place during embryonic life and is characterized by the presence of a two-layered ventricular wall, with a compact epicardial layer and a non-compacted endocardial layer. It is an uncommon condition that can occur isolated or in association with other disorders, including congenital heart anomalies and mitochondrial or musculoskeletal disorders. Both familial and sporadic forms are recognized, and several responsible genes have been identified, although only a minority of patients can be successfully genotyped. The diagnosis is usually made by echocardiography, but cardiac magnetic resonance imaging has been used increasingly. Management is mainly empirical and directed at the major clinical manifestations: heart failure, arrhythmias, and systemic embolic events. This article will review the major features of LVNC and present new trends in the diagnosis and management of this intriguing condition.     

Familial occurrence of isolated non-compaction cardiomyopathy

BACKGROUND AND AIMS: Isolated left ventricular non-compaction cardiomyopathy (LVNC) may have an autosomal dominant or X-linked recessive inheritance. We focus on the familial occurrence of LVNC after misdiagnosing this disorder in symptomatic patients in two families. After identification of the index patient we studied the families more intensively in order to unmask affected family members. METHODS AND RESULTS: LVNC was defined as an end-systolic non-compacted subendocardial layer of the left ventricular wall of at least twice the thickness of the subepicardial compacted layer (2D echocardiogram and MRI). This was studied in 13 patients in 2 families (A and B). LVNC was found in 3 out of 11 patients in family A. The grandmother was asymptomatic. Her daughter suffered from recurrent syncope and heart failure. Her daughter received a cardiac transplant because of progressive heart failure at the age of 14years. In family B, LVNC was found in 2 patients, a father and his son and presumed in a brother and a sister of the father who died suddenly at the age of 17 and 21years, respectively. CONCLUSIONS: In all symptomatic patients, proven LVNC was previously misdiagnosed as hypertrophic or dilated cardiomyopathy. Misdiagnosis may lead to insufficient treatment and will misdirect targeted molecular genetic analysis. LVNC was identified in seven patients in two families. Family screening may unmask affected family members for primary prevention including anti-coagulation and ICD-therapy.     

Isolated non-compaction cardiomyopathy: A review

Left ventricular non-compaction cardiomyopathy (LVNC) is a rare disease which belongs to unclassified congenital cardiomyopathies. According to the ESC classification, LVNC is characterized by a spongy appearance of myocardium due to increased trabeculation and deep intertrabecular recesses that communicate with the left ventricle. This phenotype is thought to be caused by arrest of normal endomyocardial morphogenesis. Clinical manifestations of LVNC include heart failure, thromboembolic events, arrhythmias and/or sudden cardiac death. Progression of LVNC is highly variable and prediction of prognosis is very difficult. The aim of this paper is to provide an update about the topic of isolated LVNC.     

Effects of carvedilol on left ventricular function, mass, and scintigraphic findings in isolated left ventricular non-compaction

A four month old infant with isolated left ventricular non-compaction was treated with carvedilol. Haemodynamic studies and various types of imaging—including echocardiography, radiographic angiography, magnetic resonance imaging, and single photon emission computed tomography with ²⁰¹Tl, ¹²³I-β-methyliodophenylpentadecanoic acid (BMIPP), and ¹²³I-metaiodobenzylguanidine (MIBG)—were performed before and 14 months after treatment. Left ventricular ejection fraction increased from 30% to 57%, and left ventricular end diastolic volume, end systolic volume, and end diastolic pressure showed striking reductions during treatment. Left ventricular mass decreased to about two thirds of the baseline value after treatment. Per cent wall thickening increased after carvedilol in the segments corresponding to non-compacted myocardium. A mismatch between ²⁰¹Tl and BMIPP uptake in the area of non-compaction observed before carvedilol disappeared after treatment. Impaired sympathetic neuronal function shown by MIBG recovered after treatment. Thus carvedilol had beneficial effects on left ventricular function, hypertrophy, and both metabolic and adrenergic abnormalities in isolated left ventricular non-compaction.


Keywords: isolated left ventricular non-compaction; carvedilol; cardiac sympathetic nerve; ventricular remodelling     

Revisiting Non-Compaction Cardiomyopathy Through a Case with Cyanosis and Complete Heart Block

Left ventricular non-compaction or “spongy myocardium”, is a rare congenital cardiomyopathy that should be considered as a possible diagnosis because of its potential complications. Echocardiography is the diagnostic tool of choice, and cardiomagnetic resonance (CMR) can confirm or rule out this disease. Herein, we report the case of an 8-month-old female child who presented with congestive cardiac failure (CCF) and symptomatic complete heart block (CHB). An echocardiogram established the diagnosis as non-compaction cardiomyopathy (NCCM). An associated double outlet right ventricle with ventricular septal defect and valvular pulmonary stenosis was found. Cardiac magnetic resonance study confirmed the findings. This singular case report of NCCM highlights the importance of clinical awareness of this rare abnormality, its varied presentation and associated cardiac anomalies. The article revisits NCCM and focuses on the practical issues for a proper echodiagnosis.     

Multiple left ventricular inferoseptal clefts. Multimodality imaging appearance and differential diagnosis

Background

Left ventricular inferoseptal clefts are a localized variant of myocardial structure, easily overlooked but potentially raising concern when identified through imaging.

Case study

Here we illustrate and describe inferoseptal clefts by means of multimodality imaging and consider them in relation to possible differential diagnoses. A 49-year-old male patient was investigated for chest pain and found to have multiple inferoseptal clefts. The pain subsequently resolved and was thought to have been pleuritic. There was no evidence or family history of hypertrophic cardiomyopathy. The diagnosis of clefts was arrived at after consultation with several cardiac imaging specialists and the few available relevant published reports. Echocardiography, cardiovascular magnetic resonance, invasive ventriculography and computed tomography each showed the clefts in relation to surrounding compact and contractile myocardium of the inferoseptal region, which occluded the clefts in systole. In terms of location, orientation and systolic occlusion the inferoseptal clefts resembled the isolated clefts reported in healthy volunteers, and have features in common with crypts reported in carriers of a genetic mutation associated with hypertrophic cardiomyopathy (HCM). The incidence and implications of multiple inferoseptal clefts have yet to be determined.

Conclusion

Multimodality imaging permits clear depiction of left ventricular inferoseptal clefts, which should be distinguished from different entities such as left ventricular noncompaction cardiomyopathy (LVNC), cardiac diverticula and cardiac aneurysms. Inferoseptal clefts have yet to be widely recognized as a distinct variant of regional left ventricular structure.     

New classification scheme of left ventricular noncompaction and correlation with ventricular performance

Isolated left ventricular noncompaction (LVNC) is an increasingly-recognized cardiomyopathy, and the possibility that it exists as a spectrum of disease has yet to be explored. We sought to determine the prevalence, spectrum, and functional consequences of LVNC; 2 blinded reviewers assessed 500 transthoracic echocardiograms for LVNC for adequate study quality, absence of co-existing cardiomyopathy, and LVNC. If present, the ratio of the maximum linear length of noncompacted to compacted myocardium (NC/C) and the planimetered area of LVNC on apical 4-chamber view were measured. Patients were classified by degree of noncompaction measured by either the NC/C ratio or LVNC area as controls, mild, moderate, and severe; 380 patients were included in the analysis and 60 (15.8%) had evidence of noncompaction. Patients with increasing severity of noncompaction had significantly decreased ejection fractions. In conclusion, these findings indicate that LVNC may be more common than previously recognized and may exist as a spectrum, which can be classified using the NC/C ratio or LVNC area classification schemes.     

Ultrafast multiplanar determination of left ventricular hypertrophy in spontaneously hypertensive rats with single-shot spin-echo nuclear magnetic resonance imaging

OBJECTIVE: To determine whether left ventricular hypertrophy can be correctly evaluated in hypertensive rats with a new nuclear magnetic resonance (NMR) imaging modality that is relatively simple to operate and provides results of constant quality while offering a high signal-to-noise ratio.DESIGN Left ventricular mass as calculated from the NMR imaging analysis was compared with the actual left ventricular mass measured by gravimetry. METHODS: Single-shot ultrafast spin-echo (SSFSE) imaging of hearts of Wistar-Kyoto rats and spontaneously hypertensive rats was performed at 4 T. Left ventricular mass was determined by using Simpson's rule on stacks of images acquired in systole and diastole. RESULTS: SSFSE NMR imaging performed in systole or in diastole evaluated and quantified left ventricular hypertrophy in hearts of spontaneously hypertensive rats very similarly to gravimetry. The left ventricular mass as determined by NMR was in good accordance with the actual left ventricular weight (SEE: 30.39 and 35.86 mg for the systolic and diastolic NMR acquisitions, respectively). CONCLUSION: Using an SSFSE sequence, high-quality NMR images of the rat heart can be generated very reliably with sufficient contrast and temporal and spatial resolution, and allow precise, non-invasive and fast characterization of left ventricular hypertrophy in a hypertensive rat model.     

左室心肌致密化不全患者的心律失常特点及其预后分析

目的总结左室心肌致密化不全(LVNC)患者的心律失常特点,并对 LVNC 预后的影响因素进行分析。方法连续入选自2006 年 1 月至 2010 年 8 月经超声心动图和 / 或心脏磁共振成像确诊为 LVNC 的患者共 112 例,总结其心律失常特点,并对 LVNC 患者的预后进行分析。结果在 112 例 LVNC 患者中,97.32%的患者存在不同程度的心电图异常,95 例(84.82%)存在 ST-T 改变,40 例(35.71%)伴有异常 Q 波,18 例(16.07%)合并左室高电压;窦缓 / 窦停 11 例(9.82%);一度房室阻滞 23 例(20.54%);二度房室阻滞 4 例(3.57%);三度房室阻滞 9 例(8.04%);5 例(4.46%)合并预激综合征;25 例(22.32%)伴有房颤 / 房扑;非持续性室性心动过速 35 例(31.25%);持续性室性心动过速 10 例(8.93%);室颤 6 例(5.36%,其中有 3 例为持续室速合并室颤)。对 112 例 LVNC 患者的 Cox 比例风险回归模型多因素分析表明,BMI、心衰分期和 LogCr 是预后的独立影响因素,风险比分别为...     

Left ventricular non-compaction cardiomyopathy: Incidental diagnosis after ST-elevation myocardial infarction

Left ventricular non-compaction cardiomyopathy is a rare congenital cardiomyopathy, which usually presents early in life but may also manifest into adulthood. We present the case of an elderly woman with left ventricular non-compaction cardiomyopathy, which was discovered incidentally following an ST-elevation myocardial infarction.     

Akute Herzinsuffizienz bei Ebstein-Anomalie und Linksherzhypertrophie

We report on a case of a 51-year-old woman suffering from progressive dyspnoea. Echocardiography showed left ventricular hypertrophy and severely reduced left ventricular ejection fraction. In addition, a downward displacement of the tricuspid valve could be seen, as described in patients with Ebstein’s anomaly. Cardiovascular magnetic resonance imaging confirmed our echocardiographic findings of severely reduced left ventricular ejection fraction and downward displacement of the tricuspid valve. Furthermore, numerous prominent ventricular trabeculations and deep intertrabecular recesses were demonstrated. There was no evidence of myocarditis or myocardial scar. The combination of echocardiography and cardiovascular magnetic resonance imaging led us to the diagnosis of non-compaction cardiomyopathy. There is no specific treatment option for non-compaction cardiomyopathy; treatment includes all options available for the treatment of heart failure.     

Screening for Fabry disease in patients with left ventricular noncompaction

Introduction and AimIt is unclear whether left ventricular noncompaction (LVNC) is a distinct cardiomyopathy or a morphologic manifestation of different cardiomyopathies. We previously reported a case of LVNC in a Fabry disease (FD) patient, but it remains to be clarified whether LVNC is a cardiac manifestation of FD, a coincidental finding or an overdiagnosis, which has major therapeutic implications. This study aims to determine the prevalence of FD among patients with LVNC.MethodsWe performed a retrospective study including all patients diagnosed with LVNC in eight hospital centers. Diagnosis of LVNC was based on at least one echocardiographic or cardiac magnetic resonance criterion. FD screening was performed by combined enzyme and genetic testing.ResultsThe study included 78 patients diagnosed with LVNC based on the Jenni (84.6%), Stöllberger (46.2%), Chin (21.8%), Petersen (83.8%) and Jacquier (16.2%) criteria. Left ventricular systolic dysfunction was present in 48.7%. Heart failure was found in 60.3%, ventricular dysrhythmias in 21.6% and embolic events in 11.5%. FD screening found no additional cases among patients with LVNC, besides the previously described case.ConclusionNo additional FD cases were found among patients with LVNC, which argues against the hypothesis that LVNC is a cardiac manifestation of FD.     

Left ventricular non‐compaction: Prevalence in congenital heart disease

Introduction

Left ventricular non-compaction cardiomyopathy (LVNC) is a rare cardiomyopathy, originally described as an isolated disease without other structural cardiac abnormalities. The aim of this study was to explore the prevalence of LVNC among adults with different types of congenital heart disease.

Methods

From our databases we identified adults with congenital heart disease who fulfilled diagnostic criteria for LVNC. We report frequencies of associated congenital cardiac defects and the prevalence of LVNC among patients with different congenital heart defects.

Results

From a total of 202 patients with LVNC, 24 patients (12%; mean age 32 ± 11 years, 19 males) had additional congenital cardiac defects. Associated defects were left ventricular outflow tract abnormalities in 11 patients (46%), including 7 uni- or bicuspid aortic valves; two aortic coarctations; one diffuse aortic hypoplasia and one subaortic stenosis, Ebstein anomaly in 6 patients (25%), tetralogy of Fallot in two (8%), and double outlet right ventricle in one patient (4%). In our cohort, the prevalence of LVNC was highest among patients with Ebstein anomaly (6/40, 15%), followed by aortic coarctation (2/60, 3%), tetralogy of Fallot (3/129, 2%) and uni- or bicuspid aortic valves (7/963, 1%).

Conclusion

In adults, various forms of congenital heart disease are associated with LVNC, particularly stenotic lesions of the left ventricular outflow tract, Ebstein anomaly, and tetralogy of Fallot. In the future, studying these patients in more depth may provide a better understanding of the interplay between genetic and hemodynamic factors that lead to the phenotype of LVNC.     

Non-compaction on echocardiography and autopsy

In an 80-year old woman with chronic heart failure due to cardiomyopathy, left ventricular non-compaction, also termed left ventricular hypertrabeculation, in the apex, the lateral wall, the posterior wall and proximally to the papillary muscles was diagnosed on echocardiography, two days before decease. Autopsy three days after echocardiography revealed thin and thick, red and white threads closely interwoven to an irregular meshwork. Echocardiography correctly localised non-compaction, but did not detect the fine meshwork and could not differentiate between the compacted and non-compacted layer of the myocardium. Cardiomyopathy was attributed to cardiac involvement in metabolic myopathy, retrospectively diagnosed upon the clinical presentation, recurrent creatine-kinase elevation, lactacidosis, and the presence of non-compaction, frequently associated with neuromuscular disorders.     

Non-compaction cardiomyopathy in an adult with hereditary spherocytosis

A 23-year old male (199 cm, 88 kg) presented muscular weakness due to skeletal myopathy and symptoms of heart failure NYHA functional class II. Total creatine kinase was increased up to 830 U/l, but troponin was negative. Prior episodes of intermittent atrial fibrillation were reported and 6 years ago splenectomy was performed due to hereditary spherocytosis. Cardiac magnetic resonance imaging revealed the spongy appearance of non-compacted left ventricular myocardium. This impaired fetal morphogenesis occurred predominantly in the apical to midventricular anterior, lateral and inferior segments. Non-compaction cardiomyopathy was initially described in paediatric patients. Occasional associations with other congenital disorders are known, e.g., Barth syndrome, which is an X-linked disease characterized by cardio-skeletal myopathy of variable severity and neutropenia. To our knowledge, combined occurrence of non-compaction cardiomyopathy, skeletal myopathy and hereditary spherocytosis has not previously been reported.     

扩张型心肌病与左心室心肌致密化不全临床和磁共振成像特征对比

目的 研究扩张型心肌病(DCM)和左心室心肌致密化不全(LVNC)的临床和磁共振成像(MRI)特征,探讨MRI对二者鉴别诊断的价值.方法 分析21例经心脏移植证实为DCM患者、25例临床证实为INNC患者的一般临床资料.利用心脏MRI检查,分析两组患者的左心房、室径线及左心功能,将左心室划分为17节段,对左心室致密化不全的节段进行计数,测量左心室各节段非致密化心肌和致密化心肌的厚度,计算非致密化心肌/致密化心肌比值(NC/C比值).结果 DCM患者全部都有胸闷、气短,心电图异常表现.而25例LVNC患者中21例(84%)患者有胸闷、气短、胸痛等症状,4例(16%)无明确症状.22例(88%)LVNC患者存在心电图异常,3例(12%)心电图无异常发现.心脏MRI显示DCM患者左心房、室扩张更明显,更趋向球形化[DCM球形指数(SI)=0.81±0.06,LVNC SI=0.74±0.11].DCM患者左心室射血分数[LVEF,(15.0±5.1)%]较LVNC[(32.7±14.2)%]低.DCM左心室有过度小梁化倾向,但LVNC患者受累节段即致密化不全的节段数(9±1)比DCM受累节段即过度小梁化节段(5±2)多.所有LVNC患者的心尖段(第17节段)均受累,而DCM患者心尖段未见受累.其他易受累节段在两组患者中分布大致相似,即侧壁中段、心尖段(第16、12、11节段)是最常见的受累节段,而室间隔基底段、中段(第2、3、8、9节段)均未见受累.LVNC患者最常发生致密化不全的心肌节段其致密化心肌厚度变薄,与DCM患者对应节段室壁厚度无差别.而不发生或很少发生致密化不全的节段,LVNC患者致密化心肌厚度比DCM患者对应节段厚.LVNC患者致密化不全心肌厚度与致密化心肌厚度比值(NC/C:3.3±0.6)较DCM患者(1.9±0.3)高,差异有统计学意义.结论 DCM与LVNC患者临床表现有些类似,心脏MRI能够显示二者在左心形态及功能方面的差别,NC的分布及程度对二者的鉴别有很大价值.     

Left ventricular noncompaction associated with a pathogenic mutation in the MYH7 gene: Known mutation,different phenotype

Left ventricular noncompaction (LVNC) is a genetically heterogeneous cardiomyopathy, with familial and sporadic forms, but genetic testing only identifies a pathogenic mutation in a minority of cases. The main complications are heart failure, embolism and dysrhythmias. Herein we report a familial case of LVNC associated with a mutation in the MYH7 gene and review the literature regarding controversies in LVNC. A 50-year-old woman was referred to the cardiology clinic for palpitations. She underwent echocardiography and cardiac magnetic resonance imaging that revealed mild left ventricular systolic dysfunction and LVNC criteria. She had several episodes of non-sustained ventricular tachycardia and received an implantable cardioverter-defibrillator (ICD). Genetic testing revealed the c.1003G>C (p.Ala335Pro) mutation in the MYH7 gene. Familial screening showed clear genotype-phenotype cosegregation, which provided strong evidence for the pathogenic role of this mutation. To the best of our knowledge, this is the first report of LVNC associated with the p.Ala335Pro mutation in the MYH7 gene. This mutation has been described in hypertrophic cardiomyopathy, suggesting that the same pathogenic sarcomere mutation may be associated with different cardiomyopathies. This case also highlights the current difficulties regarding decisions on ICD implantation for primary prevention of sudden cardiac death in LVNC.