The Efficacy of Mitral Valve Surgery in Children with Dilated Cardiomyopathy and Severe Mitral Regurgitation

Severe mitral regurgitation predicts poor outcomes in adults with left ventricular dysfunction. Frequently, adult patients now undergo initial mitral valve surgery instead of heart transplant. Pediatric data are limited. This study evaluates the efficacy of mitral valve surgery for severe mitral regurgitation in children with dilated cardiomyopathy. This is a single-institution experience in seven children (range, 0.5–10.9 years) with severe mitral regurgitation and dilated cardiomyopathy who underwent mitral valve surgery between January 1988 and February 2005, with follow-up to January 2006. Children with dilated cardiomyopathy had a depressed fractional shortening preoperatively (24.4% ± 6.1%) that remained depressed (22.9% ± 7.6%) 1.3 ± 1.2 years after surgery (p = 0.50). Left ventricular end-diastolic (6.5 ± 1.5 to 4.8 ± 1.8 z-scores, p < 0.01) and end-systolic (6.8 ± 1.5 to 5.5 ± 2.1 z-scores, p < 0.05) dimensions improved. Hospitalization frequency had a median decrease of 6.0 hospitalizations per year (p < 0.02). Three patients were transplanted 0.2, 2.4, and 3.5 years after surgery. There was no perioperative mortality. Mitral valve surgery in children with dilated cardiomyopathy was performed safely and improved symptoms, stabilizing ventricular dysfunction in most patients. Mitral valve surgery should be considered prior to heart transplant in children with dilated cardiomyopathy and severe mitral regurgitation.     

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.     

A Single-Center Experience with Intracardiac Thrombosis in Children with Dilated Cardiomyopathy

Intracardiac thrombosis in patients with a dilated cardiomyopathy can be life threatening. This study investigated the incidence, risk factors, and outcome of intracardiac thrombosis in children with dilated cardiomyopathy. A retrospective review of the clinical records was performed in 83 children with dilated cardiomyopathy diagnosed from January 1995 to December 2008. Intracardiac thrombi were detected in 5 patients (6.0%). The intracardiac thrombi were found mainly in the left ventricle (n = 3). One patient had a thrombus in the left atrium at the time of diagnosis, and a right ventricular thrombus was found in 1 patient with unrepaired ventricular septal defect complicated by pulmonary hypertension. Intracardiac thrombosis developed during rapid deterioration of ventricular function, and all patients had a poor ejection fraction of the left ventricle. All patients were treated with heparinization, and thrombectomy was performed in 1 patient. Three patients achieved complete resolution of the thrombus without further embolic complications. Careful evaluation and aggressive anticoagulation are necessary for the prevention of intracardiac thrombosis in children with poor ventricular function, especially during rapid deterioration of ventricular function.     

Abnormal right ventricular filling in patients with dilated cardiomyopathy

Summary Doppler echocardiograms of the tricuspid and mitral valves were recorded along with the electrocardiogram and respiration in six patients with dilated cardiomyopathy and 20 normal children. There was significant respiratory variation in right ventricular filling in the patients with dilated cardiomyopathy. Four variables of early diastolic right ventricular filling increased with inspiration: the peak E velocity (mean increase 55%,p<0.05), the E/total area (mean increase 32%,p<0.001), the E/A area (mean increase 74%,p<0.001), and peak E/A ratio (mean increase 72%,p<0.01), whereas the peak A velocity did not change significantly and the A/total decreased (mean decrease 27%,p<0.001). Thus, abnormalities of right ventricular filling worsened during expiration and improved with inspiration. Inspiration enhances right ventricular venous return and thus improves indices of right ventricular filling in patients with cardiomyopathy.     

Dilated cardiomyopathy in children: Clinical course and prognosis

Summary The clinical profile of 19 patients with dilated cardiomyopathy ages 2–18 years (mean 13.4±4 years) was reviewed to detect any factors that might be predictive for their survival. Follow-up ranged from 5 to 105 months (mean 39±33 months). Routine treatment consisted of digitalis and diuretics: 14 patients received antiarrhythmics, 6 received vasodilators, and 12 were managed with immunosuppression. There were 12 survivors and 7 nonsurvivors: The 1-year mortality was 21.2% and the 2-year mortality 35.8%. All deaths were within first 2 years. Of the 12 patients who survived 2 years, a significant improvement was noticed in 9. In 3 patients tachycardia-induced cardiomyopathy was diagnosed, and abolition of supraventricular tachycardia was followed by improvement and regression of cardiomegaly. Endomyocardial boopsy was performed in 16 patients. Four with a histologic diagnosis of active myocarditis survived, and in 3 of them a considerable improvement was noticed. Of the 12 patients with nonspecific histologic findings, 6 died (p<0.05). There were no significant differences between survivors and nonsurvivors for any of the following parameters: incidence of severe heart failure (NYHA class III–IV) and severe ventricular arrhythmias (Lown class III–V), relative heart volume, echocardiographic left ventricular diastolic diameter and shortening fraction, and the hemodynamic parameters of cardiac index, left ventricular ejection fraction, left ventricular end-diastolic pressure, and left ventricular end-diastolic volume index.     

Captopril in children with dilated cardiomyopathy: Acute and long-term effects in a prospective study of hemodynamic and hormonal effects

Summary Hemodynamic and hormonal effects of captopril were prospectively studied in 12 children (median age 5.8 years, range 4 weeks to 15 years) with dilated cardiomyopathy. A mean dose of 1.83 mg captopril/kg body weight was administered in three or four single doses depending on age.Left ventricular volume, ejection fraction (EF), cardiac index (CI), and systemic vascular resistance (SVR) were noninvasively determined by two-dimensional (2D) and Doppler echocardiography before and 2 days and 3 months after the onset of treatment. Blood pressure and heart rate were recorded as well. Additionally, on the day hemodynamic measurements were made, plasma renin activity (PRA), serum aldosterone, and plasma atrial natriuretic peptide (ANP) concentrations were determined. Plasma catecholamines were measured before and 2 days after captopril treatment. Concomitant medication was kept constant during the short-term phase of captopril treatment. During long-term therapy, diuretics were reduced according to the clinical status. Stroke volume (SVI) (–7%), end-systolic (ESVI) (–31%), and enddiastolic (EDVI) (–21%) volume indexes were significantly reduced (p<0.05) during short-and long-term therapy. The remaining hemodynamic parameters showed only minor, statistically not significant, changes. During short-term therapy, median serum aldosterone levels fell from 138–88.5 pg/ml (p<0.05), and plasma ANP decreased from 144–94 pg/ml (p<0.05). After 3 months these effects were less marked and statistically no longer significant. Changes in PRA and plasma catecholamines were not statistically significant at any time.Captopril thus exerted beneficial hemodynamic effects in these children with dilated cardiomyopathy by reducing left ventricular volume load. Acute hormonal drug effects were distinctly weakened during long-term therapy, while hemodynamic improvement was maintained.     

Nesiritide Improves Hemodynamics in Children with Dilated Cardiomyopathy: A Pilot Study

Background This study aimed to obtain hemodynamic measurements of nesiritide in children with dilated cardiomyopathy. Methods A prospective, randomized, double-blinded, placebo-controlled pilot study was conducted in the pediatric intensive care unit at the University of California, Los Angeles. All subjects younger than 21 years admitted to the pediatric intensive care unit with a diagnosis of dilated cardiomyopathy and submitted to cardiac catheterization were randomized to receive either nesiritide or placebo. Right heart catheterization with Swan-Ganz catheter placement was performed. Nesiritide was infused over 24 h. Hemodynamic data were obtained before, during, and after the 24-h nesiritide infusion. The measures obtained included pulmonary capillary wedge pressure (PCWP), central venous pressure, mean pulmonary arterial pressure (MPAP), systolic arterial blood pressure (SBP), cardiac index, and systemic vascular resistance. Results The study included 20 children: 9 randomized to nesiritide and 11 to placebo. At 24 h, the mean decreases in PCWP, MPAP, and SBP were significantly greater for nesiritide than for placebo: PCWP (–5.3 vs. 1.2 mmHg; p = 0.02), MPAP (–8.0 vs. 0.4 mmHg; p = 0.006), SBP (–7.9 vs. 2.6 mmHg; p = 0.04). Conclusions Nesiritide significantly decreases PCWP, MPAP, and SBP in children with dilated cardiomyopathy.     

Parvovirus B19 Infection Associated with Dilated Cardiomyopathy in Patients with Previous Anthracycline Exposure

We describe two children with previous anthracycline exposure for cancer who presented with acute decompensated left ventricular dysfunction. Both patients had evidence of dilated cardiomyopathy and required mechanical ventilation and inotropic support. Parvovirus B19 was detected by polymerase chain reaction of the blood. After several weeks of ventilation and inotropic support, both patients were weaned from ventilation and managed with oral carvedilol, ACE inhibition, and diuretics. Acute left ventricular decompensation in patients following anthracycline exposure may not be solely attributed to drug exposure, and viral etiologies should be considered.     

Long-Term Outcome of Children with Complete Heart Block Diagnosed After the Newborn Period

The aims of this study were to assess morbidity, mortality, and long-term cardiac outcome of children with congenital complete heart block (CHB) diagnosed between the ages of 3 months and 15 years. The study population consists of 61 children with CHB diagnosed in five tertiary referral centers in Finland. There were two study groups: CHB diagnosed 3 months to 2 years of age (group 1; n= 29) and CHB diagnosed between the age of 2 and 15 years (group 2; n= 32). Neonatal morbidity was significantly higher in group 1 than in group 2 (p= 0.047). In the whole study population, permanent pacemaker implantation with the main indications of low ventricular rate and syncope (52%) was performed in 80% of cases, with a median age of 11.2 years. Structural heart defect not causally associated with CHB was evident in 9 of 61 patients (15%). Of 8 patients with atrial septal defect (ASD) secundum, 6 (75%) were operated on and 7 (88%) were paced. One patient had small ventricular septal defect. The incidence of dilated cardiomyopathy was 7%. The mortality with cardiomyopathy was very high (75%). Of the 61 children, 3 (5%) died due to cardiomyopathy at the ages of 2, 26, and 31 years. In the long-term follow-up of 17 years (median, range 2.9–46 years) 17% of patients who survived had cardiac problems: arrhythmias in 5, mitral valve insufficiency in 3, ASD secundum in 1, and cardiomyopathy in 1. The long-term outcome did not depend on the age at which CHB was diagnosed. In conclusion, CHB diagnosed after the newborn period carries relatively low mortality and morbidity. Pacemaker application was indicated in most children. The possibility of an associated heart defect or dilated cardiomyopathy indicates regular echocardiographic monitoring in all children and young adults with CHB.     

Clinicopathologic Characteristics of Hypertrophic Cardiomyopathy Detected During Mass Screening for Heart Disease

Between 1981 and 1992 a total of 10 patients with hypertrophic cardiomyopathy (HCM) were detected by mass screening for heart disease in Tokyo's Adachi Ward. Four were first grade elementary school children and six were first grade junior high school adolescents. Two-dimensional echocardiography at the initial evaluation revealed asymmetric septal hypertrophy in four patients, diffuse hypertrophy of the left ventricle in five, and poor left ventricular contractility with wall thinning in one (dilated phase). Three of the five patients with diffuse hypertrophy progressed to asymmetric septal hypertrophy during the average 4-year follow-up period. The degree of septal thickness and the left ventricular wall thickness index were significantly less than in those of young adult controls (12 ± 3 versus 21 ± 9 mm, p < 0.05; and 22 ± 4 versus 28 ± 16 mm, p < 0.05, respectively). Right ventricular endomyocardial biopsy specimens obtained from 9 of the 10 patients showed features typical of HCM (e.g., myocyte hypertrophy with myofibril disarray) in five patients and atypical features (mainly interstitial fibrosis with perivascular cell infiltration) in another four. One patient with dilated phase disease died of congestive heart failure 6 months after the initial evaluation. These results indicate that HCM detected during mass screening is a mild form of the disease and may have atypical pathologic features, such as interstitial fibrosis and perivascular cell infiltration, mimicking the sequela of chronic myocarditis.     

The highest mortality rates in childhood dilated cardiomyopathy occur during the first year after diagnosis

Aim

The aim of the study was to assess the incidence, mortality and morbidity of dilated cardiomyopathy (DCM) and noncompaction of the left ventricle (LVNC) in Swedish children.

Methods

We reviewed hospital records of all children with dilated cardiomyopathy (DCM) or left ventricular noncompaction cardiomyopathy (LVNC) up to the age of 18 in the healthcare region of western Sweden from 1991 to 2015.

Results

In total, 69 cases (61% males) were identified. The combined incidence of DCM and LVNC was 0.77 (95% CI 0.59‐0.96) per 100 000 person years. Children were divided into six groups, and their outcomes were analysed depending on their aetiology. Idiopathic DCM was reported in 43%, and familial dilated and left ventricular noncompaction aetiology was present in 32%. DCM due to various diseases occurred in 8%. DCM associated with neuromuscular diseases was present in 16%. The overall risk of death or receiving transplants in children with idiopathic and familial DCM was 30% over the study period, and 21% died in the first year after diagnosis.

Conclusion

The combined incidence of DCM and LVNC was similar to previous reports. Most children with idiopathic DCM presented during infancy, and mortality was highest during the first year after diagnosis.     

Oral Enoximone as an Alternative to Protracted Intravenous Medication in Severe Pediatric Myocardial Failure

Phosphodiesterase 3 inhibitors have been used successfully in pediatric patients with acute or chronic myocardial dysfunction over the last two decades. Their protracted continuous intravenous administration is associated with risk of infectious and thromboembolic complications. Weaning intravenous medication and starting oral angiotensin-converting enzyme (ACE) inhibitors and/or beta-blockers can be challenging. We reviewed retrospectively hospital records of 48 patients receiving oral enoximone treatment in a single tertiary pediatric cardiac center between November 2005 and April 2014. Failure to wean from intravenous milrinone infusion and/or intolerance of ACE inhibitors and/or beta-blockers was indications for oral enoximone treatment. Age of the patients ranged between 0.5 and 191 months (median 7.5 months) at the time of starting enoximone treatment. There were 14 patients (29 %) with left ventricular dysfunction due to myocarditis or dilated cardiomyopathy and 34 patients (71 %) with myocardial dysfunction complicating congenital heart disease. Fifteen (44 %) of these 34 patients had left ventricular dysfunction, 13 (38 %) right ventricular dysfunction, and in 6 (18 %) both ventricles were failing. Duration of oral enoximone treatment was between 3 days and 34 months (median of 2.3 months). Myocardial functional recovery allowed for weaning of enoximone treatment in 15 patients (31 %) after 6 days–15 months (median 5 months). No adverse hemodynamic effects were noted. Blood stained gastric aspirates encountered in two patients resolved with concomitant milk administration. Based on our limited experience, oral enoximone is a well-tolerated and promising alternative to intravenous medication and/or other commonly used oral medications in selected pediatric patients with chronic heart failure.     

Prospective Single-Arm Protocol of Carvedilol in Children with Ventricular Dysfunction

The objective of this study was to evaluate the safety and efficacy of carvedilol in pediatric patients with stable moderate heart failure. We performed a single-arm prospective drug trial at three academic medical centers and the results were compared to historical controls. Patients were 3 months to 17 years old with an ejection fraction <40% in the systemic ventricle for at least 3 months on maximal medical therapy including ACE inhibitors. Treated patients were started on 0.1 mg/kg/day and uptitrated to 0.8 mg/kg/day or the maximal tolerated dose. Echocardiographic parameters of function were prospectively measured at entry and at 6 months. Two composite endpoints were recorded: severe decline in status and significant clinical change. Adverse events were reviewed by a safety committee. Data were also collected from untreated controls with dilated cardiomyopathy meeting entry criteria, assessed over a similar time frame. Twenty patients [12 dilated cardiomyopathy (DCM) and 8 congenital] with a median age of 8.4 years (range, 8 months to 17.8 years) were treated with carvedilol. Three patients discontinued the drug during the study. At entry, there was no statistical difference in age, weight, or ejection fraction between the treated group and controls. The ejection fraction of the treated DCM group improved significantly from entry to 6 months (median, 31 to 40%, p = 0.04), with no significant change in ejection fraction in the control group [median, 29 to 27%, p = not significant (NS)]. The median increase in ejection fraction was larger for the treated DCM group than for the untreated DCM controls (7 vs 0%, p = 0.05). By Kaplan–Meier analysis, time to death or transplant tended to be longer in treated patients (p = 0.07). The difference in the proportion of patients with severe decline in status or significant clinical change in the treated group was not significant compared to the controls (5 vs 12%, p = NS). We conclude that in this prospective protocol of pediatric patients, the use of adjunct carvedilol in the DCM group improved ejection fraction compared to untreated controls and trended toward delaying time to transplant or death.     

Peripheric stem cell transplantation in children with dilated cardiomyopathy: Preliminary report of first two cases

Olguntürk R, Kula S, Sucak GT, Özdo?an ME, Erer D, Saygili A. Peripheric stem cell transplantation in children with dilated cardiomyopathy: Preliminary report of first two cases.
Pediatr Transplantation 2010:14:257–260. © 2009 John Wiley & Sons A/S. Abstract: We report two pediatric patients with IDC who underwent autologous PSCT. Both cases were referred to our clinic for cardiac transplantation because of end‐stage heart failure resistant to conventional therapy with digoxin, diuretics, ACE inhibitors, and sympathomimetics. They had ejection fractions below 35%. In each case, autologous stem cell transplantation was performed via the coronary arteries, and five wk after the procedure transthoracic echocardiography showed a striking gain in their ejection fractions and an improvement in the left ventricular dimensions compared with the initial measurements. Although heart transplantation is the only option for children with IDC, stem cell transplantation can lessen the waiting list mortality and prolong the time for a patient to wait for a suitable donor.     

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 Received: 12 May 1996 / Accepted: 29 July 1996     

Clinical and Echocardiographic Outcome in Patients Receiving Carvedilol for Treatment of Dilated Cardiomyopathy

Objective

To determine outcome of children receiving carvedilol in addition to other standard drug therapy for treatment of dilated cardiomyopathy.

Methods

Children receiving carvedilol for treatment of dilated cardiomyopathy with moderate to severe ventricular dysfunction were included into the study. Data on history, clinical examination and investigations were obtained and detailed echocardiography findings were recorded for the initial and all subsequent visits.

Results

Thirty-three children, mean age 26?±?30 mo (range 7 mo to 138 mo) were enrolled. Carvedilol was initiated at a mean dose of 0.14?±?0.03 mg/kg/d and the maintenance dose was 0.46?±?0.14 mg/kg/d. At a follow up of 6–90 mo (mean of 28?±?23 mo), functional class using Ross classification for pediatric heart failure improved from 2.7 to 1.3. The left ventricular ejection fraction rose from a basal value of 22 %?±?7 % (10–40 %) to 42 %?±?15 % (15–65 %) (p?<?0.0001). Similarly, left ventricular fractional shortening increased significantly from 16?±?6 % (8–34 %) to 21?±?7 % (10–44 %) (p?<?0.0001). One patient deteriorated and died of refractory heart failure. Carvedilol was discontinued in two more patients temporarily due to bronchospasm during respiratory infection.

Conclusions

The present study suggests that improvement in ventricular function and clinical symptoms is seen on oral carvedilol added to standard drug therapy in pediatric patients with dilated cardiomyopathy and moderate to severe ventricular dysfunction. The drug is well tolerated with minimal side effects but close monitoring is required as it may worsen heart failure and bronchospasm.     

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     

心电图T波振幅与儿童扩张性心肌病左室射血分数的关系

目的 探讨心电图T波振幅与儿童扩张性心肌病左室射血分数（LVEF）的关系。方法 回顾性分析2009年5月至2018年6月诊断为扩张性心肌病的44例儿童的临床资料。根据LVEF分为LVEF ≥ 50%组（n=26）和LVEF<50%组（n=18）,且对治疗后25例进行3~42个月（平均14±9个月）的随访。采用广东中山SR-1000A心电综合自动分析仪描记仰卧位12导联体表心电图,程序自动分析结合人工干预测量12导联心电图T波振幅。结果 （1）T波振幅比较：LVEF<50%组较LVEF ≥ 50%组Ⅱ、V₄、V₅、V₆导联T波振幅明显降低（P < 0.05）。LVEF增高组（治疗后较治疗前LVEF增加>5%）治疗后aVR、V₅、V₆导联T波振幅明显增高（P < 0.05）;LVEF不变组（治疗后较治疗前LVEF增加≤ 5%）治疗后aVR导联T波振幅明显降低（P < 0.05）。（2）受试者工作特征曲线评价：Ⅱ、V₄、V₅、V₆导联T波振幅对扩张性心肌病患儿LVEF<50%具有预测价值（P < 0.05）。当同时出现Ⅱ导联T波振幅≤ 0.20 mV、V₄导联T波振幅≤ 0.40 mV、V₅导联T波振幅≤ 0.3 mV、V₆导联T波振幅≤ 0.30 mV时,预测扩张性心肌病患儿LVEF<50%的灵敏度为88.2%,特异度为76.0%。结论 心电图T波振幅可作为评估儿童扩张性心肌病左室收缩功能的指标。     

Left Ventricular Tonic Contraction as a Novel Biomarker of Cardiomyopathy in Duchenne Muscular Dystrophy

Dilated cardiomyopathy (DCM) inevitably afflicts patients with Duchenne muscular dystrophy (DMD) as a consequence of cell death induced by unguarded calcium influx into cardiomyocytes. This mechanism may also inhibit muscle relaxation in early stages of cardiomyopathy. ACE inhibition (ACEi) is known to delay the onset and slow the progression of DCM in DMD. The objective of this study is to use echocardiography to assess for preclinical cardiac changes consistent with intracellular calcium dysregulation before the onset of overt ventricular dysfunction, and to evaluate how prophylactic ACEi may alter these pre-cardiomyopathic changes in the pediatric DMD population. We examined 263 echocardiograms from 70 pediatric patients with DMD. We defined abnormal tonic contraction (TC) as left ventricular internal dimension in diastole (LVIDd) Z-score < ?1.5. In our cohort, we found that TC is detectable as early as 8 years of age, and most commonly affects patients between 11 and 15 years. This effect was independent of LV mass and systolic function. Prophylactic ACEi decreased the incidence of TC (p = 0.007) and preserved cardiac function (p < 0.0001). Left ventricular TC often precedes DCM in DMD, most commonly affecting the 11- to 15-year-old age range. TC is not related to ventricular hypertrophy, but rather may be a clinical correlate of the “calcium hypothesis” of DMD pathophysiology. LV TC is thus a promising biomarker for early detection of cardiomyopathy in DMD. ACEi prophylaxis suppresses LV TC and delays the development of DCM in DMD.     

Echocardiography of intracardiac filling defects in infants and children

Summary Intracardiac masses are rare in infants and children. Early detection is essential to their successful management. We present seven patients in whom echocardiography established the diagnosis and was crucial in the management. Three of the masses were primary cardiac tumors and four were thrombi.Patient 1: an infant with a calcified left ventricular fibroma.Patient 2: a neonate who presented with cyanosis due to obstruction of the right ventricular inflow tract by a fibroblastic tumor.Patient 3: an infant with a right atrial myxoma presenting as sepsis.Patient 4: a child who had a pulmonary embolus after a pulmonary valvotomy and was found to have a right ventricular thrombus.Patient 5: a child with a right atrial thrombus following a Fontan procedure for univentricular atrioventricular connection.Patient 6: a child with a left ventricular thrombus due to a dilated cardiomyopathy in association with epidermolysis bullosa.Patient 7: An infant with bilateral lobar emphysema, an aorticopulmonary window with left ventricular fibroelastosis, who developed a left ventricular thrombus.