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??Objective??To analyze the clinical data of hospitalized children with cardiomyopathy in 16 hospitals in China in nearly 10 years??and to provide evidence for its precision diagnosis and treatment. Methods??The clinical data of hospitalized children treated in 16 pediatric departments in China from July 2006 to June 2016 were analyzed retrospectively??which included the gender??age??cardiac function on admission??concomitant disease on admission??electrocardiogram??echocardiograph??laboratory examinations and genetic tests??Their conditions after discharge were followed up by making telephone calls. Results??A total of 1823 hospitalized children with cardiomyopathy were admitted??accounting for 0.1% of pediatric hospitalized children during the same period. Dilated cardiomyopathy??DCM?? was the most common kind of cardiomyopathy??33.57%????followed by endocardial fibroelastosis??27.81%?? and left ventricular noncompaction??LVNC????11.03%??.The age at onset was diverse. The largest percentage was 0-6 month-old children??27.3%????followed by 1-3 year-olds??22.7%??. A total of 43.2% of the patients’cardiac function was NYHA class ?? or above and Ross grade 7 or above??and 4.3% had cardiogenic shock??the incidence of thromboembolism during hospitalization was 0.6%??mainly in patients with DCM and LVNC. Arrhythmia was presented in 36.3% of patients??and the most common types included premature beats??tachycardia??conduction block??and pre-excitation syndrome. Echocardiography revealed 18.3% of the patients had pericardial effusion. The incidence of valvular regurgitation was 77.6%??and mitral regurgitation was more common. The overall mortality rate was 2.80%. Conclusion??The hospitalized children with cardiomyopathyhave increased year by year. The common types of cardiomyopathy are DCM??EFE??and LVNC. The age of onsetis under age3 in most children with cardiomyopathy??and arrhythmiais the most common complication. Only3.24% of the patients completed genetic test. It is necessary to further improve the diagnosis and treatment of childhood cardiomyopathy.     

A Novel Method for Quantification of Left Ventricular Noncompaction Using Two-Dimensional Echocardiography in Children

Objective

Although there are several echocardiographic criteria, there is not yet a general consensus about the diagnosis of left ventricular noncompaction. The current criteria are mostly based on the areas with maximal noncompaction in the heart. The echocardiographer may miss this maximal point leading to a misdiagnosis. Accordingly, we suggested a new method to measure the percentage of myocardial noncompaction using two-dimensional echocardiography.

Methods

In this study, the new method was examined on 4 noncompaction and 26 dilated cardiomyopathies, and 25 normal subjects. The percentage of noncompaction was measured at 3 levels (apical, papillary muscle and mitral valve) and averaged.

Findings

The mean percentages of myocardial noncompaction were 3.59±2.27, 8.86±5.52 and 34.7±26.1 in the control, dilated cardiomyopathy and noncompaction groups, respectively. A value of 17% or greater could distinguish left ventricular noncompaction from dilated cardiomyopathy with 92% specificity and 100% sensitivity and from normal subjects with 100% specificity and sensitivity. This percentage had a statistically significant association with noncompacted to compacted myocardial thickness ratio (P<0.001).

Conclusion

This method showed good correlations with the existing echocardiographic and magnetic resonance criteria. However, it is not dependent on finding the area of maximal involvement. Being comparable to magnetic resonance imaging in accuracy, it is easier to perform and more available.     

Cardiac dysrhythmias in children with idiopathic dilated or hypertrophic cardiomyopathy

To assess the incidence and prognostic significance of cardiac dysrhythmias in children with idiopathic dilated or hypertrophic cardiomyopathy, the clinical course of 59 patients was retrospectively reviewed over a period of 27 years. Dilated cardiomyopathy (DCM) was diagnosed in 28 patients and hypertrophic cardiomyopathy (HCM) in 31 patients. The mean age at the time of diagnosis was 2.8±0.7 years in DCM patients and 6.7±0.8 years in HCM patients. Mean follow-up time after diagnosis of cardiomyopathy was 4.1±1.0 years in DCM patients and 6.6±0.8 years in HCM patients. Clinically significant cardiac dysrhythmias were found in 17 of 59 patients (29%): 7 of 28 patients (25%) with DCM and 10 of 31 patients (32%) with HCM. The initial diagnosis of a cardiac dysrhythmia was made by standard electrocardiography in 12 of 17 patients (71%) and by 24-hour Holter monitoring in 5 of 17 patients (29%). Ventricular dysrhythmias were present in 5 of 7 patients with dilated cardiomyopathy and in 5 of 10 patients with hypertrophic cardiomyopathy. During the follow-up time, death occurred in 18 of 59 patients (31%): 8 of 59 patients (14%) died from congestive heart failure and 10 of 59 patients (17%) died suddenly. Among the sudden deaths were 4 of 28 patients (14%) with dilated cardiomyopathy and 6 of 31 patients (19%) with hypertrophic cardiomyopathy. Cardiac dysrhythmias had been documented in 6 of the 10 patients dying suddenly (3 of 4 patients with DCM and 3 of 6 patients with HCM). It is concluded that (1) cardiac dysrhythmias are not a rare finding in children with idiopathic dilated or hypertrophic cardiomyopathy, and (2) their occurrence is not a predictor for sudden death.     

左心室心肌致密化不全突变基因的研究进展

左心室心肌致密化不全(left ventricular noncompaction,LVNC)是由于胚胎初期心内膜及心肌细胞发育停止而引起的一种相对罕见心肌病,因该病主要累及左心室而得名.LVNC是散发性或家族性遗传疾病,具有明显的遗传异质性,它以X连锁及常染色体显性遗传.LVNC的遗传学特点为非单一性遗传,其致病基因及突变位点表现多样.现已经证明LVNC与多个基因突变密切相关,且与诱发其他心肌病的基因发生基因重叠.该文将对LVNC相关突变基因的研究进展作一综述.     

Left Ventricular Noncompaction Cardiomyopathy in Association with Trisomy 13

In recent years, left ventricular noncompaction (LVNC) has been recognized as a distinct form of cardiomyopathy with its own clinical presentation and natural history. More than 100 cases of LVNC have been described in children. Although LVNC has been described in association with metabolic disorders such as Fabry's disease or genetic disorders such as Roifman's syndrome, this case represents the first report of LVNC in a child with trisomy 13.     

Familial dilated cardiomyopathy

Considerable progress has been made to identify genetic causation of dilated cardiomyopathy (DCM). DCM is characterized by left ventricular dilatation and systolic dysfunction, and after known causes have been excluded has been termed idiopathic dilated cardiomyopathy (IDC). Studies of IDC that occurs in families, termed familial dilated cardiomyopathy (FDC) provided the initial phenotypic data to suggest genetic causation. The study of large families with linkage analysis and gene mapping methods have recently implicated 16 autosomal genes and two X-linked genes. Mutations in these genes account for approximately 20–30% of genetic causation, suggesting that additional genetic causation remains unknown. FDC demonstrates incomplete penetrance, variable expression, and significant locus and allelic heterogeneity, making diagnosis complex. Echocardiographic and electrocardiographic screening of first-degree relatives of individuals with IDC and FDC is indicated, as detection and treatment are possible prior to the onset of advanced, symptomatic disease. Genetic counseling for IDC and FDC may also be appropriate. It is anticipated that a great deal of additional genetic information yet to be discovered will add greatly to our understanding of the genetics of dilated cardiomyopathy.     

Association of Sudden Death and Seizure with Left Ventricle Non-compaction in a Family

Background

Left ventricle non-compaction (LVNC) or persistence of spongy myocardium is a rare form of congenital cardiomyopathy which presents with cardiac failure, thromboembolic events, arrhythmia and sudden death.

Case Presentation

We report a family with two deceased children and two alive offspring diagnosed with left ventricular (LV) non-compaction. A 9-year-old boy and a 16-year-old girl of our reported family suddenly died following exercise and emotional provocation. Both had a history of convulsion and syncope, with the latter taking anticonvulsant medication. Following their demise, the other members of the family were evaluated by echocardiography. The remaining two offsprings, one boy and one girl were diagnosed as having isolated LVNC.

Conclusion

Syncope and convulsion can be first manifestations of LVNC and heralding signs for sudden death in patients with LVNC. Echocardiography can be helpful for early diagnosis.     

The Pediatric Cardiomyopathy Registry: 1995–2007

Cardiomyopathy is a serious disorder of the heart muscle and, although rare, it is potentially devastating in children. Funded by the National Heart Lung and Blood Institute since 1994, the Pediatric Cardiomyopathy Registry (PCMR) was designed to describe the epidemiology and clinical course of selected CMs in patients 18 years old or younger and to promote the development of etiology-specific prevention and treatment strategies. Currently, data from more than 3000 children with cardiomyopathy have been entered in the PCMR database with annual follow-up continuing until death, heart transplant, or loss-to-follow up. Using PCMR data, the incidence of cardiomyopathy in two large regions of the United States is estimated to be 1.13 cases per 100,000 children. Only 1/3 of children had a known etiology at the time of cardiomyopathy diagnosis. Diagnosis was associated with certain patient characteristics, family history, echocardiographic findings, laboratory testing, and biopsy. Greater incidence was found in boys and infants (< 1 yr) for both dilated and hypertrophic cardiomyopathy (DCM, HCM) and black race for only DCM. In DCM, prognosis is worse in older children (> 1 yr), heart failure (HF) at diagnosis or idiopathic etiology. For HCM, worse prognosis is associated with inborn errors of metabolism or combination of HCM and another cardiomyopathy functional type. The best outcomes were observed in children presenting at age > 1 yr with idiopathic HCM. PCMR data have enabled analysis of patients with cardiomyopathy and muscular dystrophy, as well as Noonan Syndrome. Currently, collaborations with the Pediatric Heart Transplant Study group and a newly established Pediatric Cardiomyopathy Biologic Specimen Repository at Texas Children's Hospital will continue to yield important results. The PCMR is the largest and most complete multi-center prospective data resource regarding the etiology, clinical course and outcomes for children with cardiomyopathy.     

Sinus Bradycardia, Wolff Parkinson White, and Left Ventricular Noncompaction

Left ventricular noncompaction (LVNC) is an uncommon disorder that has recently been recognized as a distinct cardiomyopathy. LVNC is thought to result from an arrest in the normal process of myocardial compaction. The association of Wolff-Parkinson-White with noncompaction of the left ventricle is well recognized. Sinus bradycardia has also been associated with LVNC, although less frequently than that of Wolff-Parkinson-White. We report an infant with LVNC, Wolff-Parkinson-White, and progressive sinus bradycardia who had a myocardial vascular abnormality in the region of the sinus node evident on autopsy. We propose that the progressive nature of the conduction system abnormality was as a result of abnormal angiogenesis.     

Tissue Doppler,speckling tracking and four-dimensional echocardiographic assessment of right ventricular function in children with dilated cardiomyopathy

BACKGROUNDRight ventricular (RV) function is frequently overlooked during dilated cardiomyopathy (DCM) evaluation. AIMTo evaluate RV function in children with idiopathic DCM using relatively recent echocardiographic modalities. METHODSWe prospectively studied the cardiac function in 50 children with idiopathic DCM and 50 healthy children as a control group, using four-dimensional echocardiography (4-DE), Tissue Doppler Imaging (TDI), and two-dimensional-speckles tracking echocardiography (2-D-STE). RV EF was measured by 4-DE. RESULTSThe auto left (LV) ejection fractions (EF) measured by 2-D-STE were significantly lower in the patients'' group than in the control. The sphericity index was also significantly lower in children with DCM than in the control. RV EF measured by 4-DE was significantly lower in the patient''s group than the control. RV S wave, e´/a'' ratio, myocardial performance index (MPI), and tricuspid annular plane systolic excursion (TAPSE) were significantly impaired in children with DCM than in control. Both LV and RV global longitudinal strains (GLS) were significantly reduced in children with DCM than in control. RVGLS was significantly associated with the duration since diagnosis, tricuspid annulus S wave, RV MPI, and TAPSE, but not with the age of the patients, RV EF, or e´/a'' ratio. CONCLUSIONThere was impairment of the RV LGS and other systolic and diastolic parameters in children with DCM. STE and TDI can help to detect the early decline of RV function.     

Fibrillin-1 Gene Mutations in Left Ventricular Non-compaction Cardiomyopathy

Left ventricular non-compaction cardiomyopathy (LVNC) is a unique cardiomyopathy with a current yield of about 30–40 % in identifying a causative gene mutation. A retrospective review of all patients with LVNC at our institution was performed and genetic testing was reviewed. Echocardiographic and cardiac magnetic resonance imaging was reviewed to corroborate the reported phenotype. We present a series of patients with LVNC dilated phenotype associated with fibrillin-1 gene mutations. Fifty-one patients were identified as having LVNC with reduced left ventricular function and/or left ventricular dilation. We retrospectively reviewed gene testing in this cohort when available and identified 5 patients (10 %) with an FBN1 gene mutation. Syndrome breakdown as follows: 3 with Marfan, 1 with Shprintzen-Goldberg, and 1 with no identifiable syndrome. Derangements in fibrillin-1 may impact the compaction process resulting in LVNC. Although causation has not been proven by our report, it certainly raises interest in a possible mechanistic relationship between fibrillin-1 and LVNC given the increased prevalence of Marfan syndrome and fibrillin-1 gene mutations in this cohort.     

Differing clinical courses and outcomes in two siblings with Barth syndrome and left ventricular noncompaction

Barth syndrome is an X-linked disorder usually diagnosed in infancy. It is characterized by hypotonia, dilated cardiomyopathy, neutropenia, growth retardation, and 3-methylglutaconic aciduria. The syndrome is typically caused by mutations in the TAZ (G4.5) gene, which encodes a novel protein family called the tafazzins. We report the case of two brothers with Barth syndrome and left ventricular noncompaction (LVNC) caused by a splice donor mutation in TAZ. Both had impaired sucking ability at the age of 2 months. The elder brother was diagnosed with LVNC at the age of 4 months; by that time he had developed severe heart failure with metabolic decompensation. He died at 12 months of age due to intractable heart failure despite pharmacological therapy with diuretics, an angiotensin-converting enzyme inhibitor, and a beta-blocker. However, the younger brother, who was diagnosed as having Barth syndrome and LVNC with heart failure at the age of 2 months, received early medical treatment and demonstrated normal echocardiographic findings. Conclusion: The clinical courses of Barth syndrome observed in our cases show the phonotypic variability of this syndrome and suggest that early therapy may be beneficial for maintaining cardiac function.     

Left ventricular noncompaction

Left ventricular noncompaction (LVNC) is a rare form of cardiomyopathy of emerging importance. We report a case of a 3-months-old boy who presented with congestive heart failure due to LVNC.     

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.     

Dilated cardiomyopathy and thrombo-embolism

The purpose of this study was to investigate the incidence, outcome and prevention of thrombo-embolism in children with dilated cardiomyopathy. From 130 patients with dilated cardiomyopathy, 17 (14%) showed evidence of thrombo-embolism. Seven had initial cardiac thrombus, 7 exhibited initial embolus and in 3 thrombo-embolism was only diagnosed at autopsy. All 17 patients showed seriously impaired systolic function of the left ventricle with fractional shortening (FS) of 10?±?3%, range 5%–17%, as compared to those without thrombo-embolism with FS of 17%?±?6%, range 5%–26% (P?<;?0.0001). Seven patients were treated with oral anticoagulants once thrombo-embolism had been diagnosed; one of them experienced a further embolic event as opposed to three out of four patients not treated with anticoagulants. Conclusion?All children with dilated cardiomyopathy and fractional shortening below 20% should be treated with prophylactic anticoagulative agents     

NT-proBNP as a Marker for Persistent Cardiac Disease in Children with History of Dilated Cardiomyopathy and Myocarditis

Children with myocarditis and dilated cardiomyopathy may recover clinically and echocardiographically. Plasma levels of the N-terminal segment of B-type natriuretic peptide prohormone (NT-proBNP), a sensitive marker for cardiac dysfunction, may reflect residual cardiac damage in these patients. The purpose of this study was to evaluate NT-proBNP status in pediatric patients with a history of myocarditis and dilated cardiomyopathy. Cardiac evaluation was performed and the levels of NT-proBNP were measured in 23 children who had a history of myocarditis or dilated cardiomyopathy. NT-proBNP levels were also measured in 56 age-matched control children. Nine of the 23 patients had evidence of left ventricular dysfunction (DCM group), whereas 14 had none (recovery). NT-proBNP levels were higher in the DCM group (3154 ± 2858 pg/ml) than in the recovery group (122 ± 75 pg/ml, p < 0.001) and the control group (113 ± 96 pg/ml, p < 0.001). There was no difference between the recovery and the control groups (p = 0.45), and none of the recovered patients had a NT-proBNP level higher than the upper limit of normal. The area under the receiver operating characteristics curve for the diagnosis of persistent left ventricular dysfunction was 0.984. NT-proBNP levels correlated with echocardiographically derived shortening fraction and with clinical score. NT-proBNP is a good marker for persistent left ventricular dysfunction in children who have had myocarditis or cardiomyopathy. In this group of patients, NT-proBNP levels are normal in children who recover echocardiographically, suggesting no residual hemodynamic abnormalities.     

扩张型心肌病患儿血清一氧化氮含量变化及其与左室功能关系

为探索扩张型心肌病 (DCM )患儿血清一氧化氮 (NO)含量的变化及其与左室功能的关系 ,检测26例DCM患儿血清NO水平及左室射血分数 (LVEF) ,并以34例健康儿童血清NO含量作为对照。结果显示 ,DCM患儿血清NO含量较正常儿童明显增高 (P<0.01) ,并与LVEF呈显著负相关 (r= -0.80,P<0.01)。提示DCM患儿的心功能下降可能与NO过度生成有关     

Long-Term Support with Milrinone Prior to Cardiac Transplantation in a Neonate with Left Ventricular Noncompaction Cardiomyopathy

A 2-week-old female infant presented with acute decompensated left ventricular failure. Echocardiography diagnosed left ventricular noncompaction cardiomyopathy with dilated phenotype and a left ventricular shortening fraction <10%. The infant was mechanically ventilated for 2 weeks and then successfully extubated. She was maintained on intravenous milrinone for 6 months until she underwent successful orthotopic heart transplantation. Young children can be supported with inotropes for prolonged periods while awaiting heart transplantation.     

儿童扩张型心肌病发病机制及治疗进展

儿童扩张型心肌病是病因复杂多样的心肌疾病,包括遗传和非遗传的多种发病机制.卡维地洛具有非选择性β受体阻滞作用同时有α1受体阻滞作用,在改善心肌收缩力、抑制心室重构等方面具有突出功能,广泛用于成年人心功能不全治疗,该文对儿童扩张型心肌病发病机制和卡维地洛对其治疗的新进展进行综述.     

Congenital Atresia of the Left Main Coronary Artery With Noncompaction of the Ventricular Myocardium in an Asymptomatic Young Child

Congenital atresia of the left main coronary artery (LMCA) is an extremely rare cardiac anomaly, and no cases have been reported from the mainland of China. The diagnosis for the 20-month-old boy in the reported case highlights the essentiality of comprehensive diagnostic measures. To avoid a misdiagnosis, electrocardiographic and echocardiographic evidence should be vigilantly explored in young children suspected of having dilated cardiomyopathy. This is the first case report of LMCA atresia associated with noncompaction of the left ventricular myocardium.