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.     

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.     

多巴酚丁胺负荷超声心动图评价小儿心脏β-受体反应性

目的 研究小儿心脏β受体功能和反应性。方法 采用多巴酚丁胺负荷超声心动图,对３０例β－ＡＲ功能亢进症,１５例扩张型心肌病患儿和３０例正常对照小儿的心脏左心室射血分数,短轴缩短率,左心室收缩末期容量指数,收缩压和左心室收缩末期容量指数比值及左心室后壁增厚率等进行测定。     

Reversible Cardiomyopathy Secondary to α-Interferon in an Infant

Interferon-α (IFN-α) is a biological response modifier with antiviral and tumoral effect that is used in the treatment of chronic myelogenous leukemias. Adverse effects are well documented and cardiovascular disturbances mostly include hypotension and tachycardia and rarely cardiomyopathy. We report on an infant with chronic myelomonocytic leukemia (CML) diagnosed at 3 months of age who was treated with increasing IFN-α dosage (2.5–5.5 million U/m²/day) given subcutaneously for 7.5 months. At that age, he presented anorexia, general malaise, and nocturnal sweating for about a week, followed by respiratory distress and tachycardia. Diagnosis of congestive heart failure was suspected and documented by cardiomegaly and echographic changes of left ventricular dilated cardiomyopathy, with a 40% left ventricular ejection fraction (EF) and 20% fractional shortening (FS). He was treated with digoxin, furosemide, and angiotensin converting inhibitors, and IFN-α was discontinued. Progressive improvement of cardiac function was observed within 7 months of the events with normalization of the echocardiographic findings (EF 60%, FS 31%). We should emphasize the possibility of severe and reversible cardiac toxicity of IFN-α in infancy.     

Severity of Mitral Regurgitation Predicts Risk of Death or Cardiac Transplantation in Children With Idiopathic Dilated Cardiomyopathy

Clinical outcomes among children with idiopathic dilated cardiomyopathy (IDC) are diverse, which makes the decision as to when a patient should be listed for a cardiac transplantation challenging. This study aimed to determine echocardiographic and clinical variables that can help clinicians identify those at highest risk for death or cardiac transplantation. The study was a single-center, retrospective chart review of children with IDC. Patients younger than 18 years with a diagnosis of IDC, as defined by a left ventricular end-diastolic dimension (LVEDD) z-score higher than 2, and fractional shortening of less than 28 % on the initial echocardiogram, were included in the study. Echocardiographic parameters including mitral regurgitation (MR) grade and certain clinical parameters at the time of presentation were assessed. A follow-up echocardiogram was similarly studied. The study included 49 children with IDC. Those who died or underwent cardiac transplantation were grouped as “nonsurvivors” (n = 26). The remaining children who either completely recovered or experienced chronic dilated cardiomyopathy were grouped as “survivors” (n = 23). The median age overall was 1.25 years (range 0.1–17 years). The follow-up echocardiograms of the survivors showed significant improvement in left ventricle size, systolic function, left atrial volume, and MR grade, whereas these parameters did not change in the nonsurvivor group. The use of inotropic medications at initial presentation was an independent predictor of death or cardiac transplantation (p < 0.05). The presence of moderate to severe MR at diagnosis also was predictive of a worse outcome.     

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.     

Usefulness of Pulsed Wave Tissue Doppler Imaging in Assessment of Left Ventricular Functions in Children with Beta-Thalassemia Major

Objective

To evaluate the changes in the LV systolic and diastolic function in children with beta-thalassemia major (β-TM) using pulsed wave tissue doppler (TD) echocardiography.

Methods

Clinical, conventional echo doppler and pulsed wave tissue doppler imaging parameters were compared in 40 beta-thalassemia major patients (mean age, 6.52?±?3.5 y) and 25 age and sex matched normal subjects (mean age, 6.5?±?2.7 y).

Results

There were no significant statistical differences between mean fractional shortening (FS) and ejection fraction (EF) of left ventricle (LV) of the patients and control group. Children with beta-thalassemia had significantly lower E′ wave velocities measured at the left ventricular septal annulus (8.1?±?3.3 vs. 13?±?2.5, P?<?0.001), lateral margin of the mitral annulus (9.1?±?5.4 vs. 13.3?±?2.5, P?<?0.001) and lateral margin of the tricuspid annulus (9.3?±?3.9 vs. 13.3?±?2.5, P?<?0.001) when compared to the control group. Furthermore children with beta-thalassemia had significantly lower E′/A′ wave ratio at the left ventricular septal annulus (0.76?±?0.34 vs. 1.36?±?0.23), lateral margin of the mitral annulus (0.83?±?0.17 vs. 1.28?±?0.22), and lateral margin of the tricuspid annulus ((0.90?±?0.27 vs. 1.26?±?0.23, (P?<?0.05) when compared to the control group.

Conclusions

This study showed that patients with beta-thalassemia major and normal conventional echo doppler parameters had statistically significant changes detected by pulsed wave tissue doppler imaging.     

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.     

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.     

Diagnosis of anthracycline-induced late cardiomyopathy by exercise-spiroergometry and stress-echocardiography

Anthracyclines are used in the therapy of several of the most common paediatric oncological disorders. The usefulness of these agents is limited by cardiotoxicity, with congestive heart failure developing in up to 20% of patients. To stratify possible risk factors, we investigated 38 children with acute lymphoblastic leukaemia for signs of late cardiomyopathy. Exercise-spiroergometry and stress-echocardiography with measurement of fractional shortening (FS) and ejection fraction (EF) as indicators of left ventricular function were performed. ECG, 24 h Holter monitoring, chest X-ray, virus serology and carnitine were analysed. Control subjects were 38 healthy children matched for age and body surface area. All 38 patients had normal echocardiographic findings at rest (EF: 0.73 +/- 0.06; FS: 0.35 +/- 0.05). ten patients had a significant attenuation of left ventricular function after exercise assessed by stress-echocardiography compared to the remaining 28 patients and 38 healthy control subjects (EF: 0.52 +/- 0.08 versus 0.77 +/- 0.06 and 0.80 +/- 0.08; FS: 0.29 +/- 0.06 versus 0.39 +/- 0.05 and 0.41 +/- 0.02); patients with reduced ventricular function after exercise had significant low anaerobic threshold, subnormal maximal oxygen uptake and decreased carnitine levels. The findings were not related to the dosage of administered doxorubicin. There exists no correlation between ECG, 24 h ECG, chest X-ray, virology and left ventricular dysfunction. The benefit of angiotensin converting enzyme inhibitors and the administration of carnitine remains speculative. Conclusion: exercise-spiroergometry and stress-echocardiography are sensitive investigations for diagnosing subclinical cardiomyopathy late after completion of chemotherapy. Investigative findings of cardiomyopathy are not dose related and may provide information for therapeutic prevention before clinical symptoms of cardiomyopathy appear.     

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.     

Myocardial function in children after fetal chemotherapy exposure. A tissue Doppler and myocardial deformation imaging study

Chemotherapy and particularly anthracycline exposure are associated with acute and chronic cardiotoxicity. Few data exist on the effect of cardiac function after in utero exposure to maternal chemotherapy. Our recently published multicenter prospective study showed no significant changes in systolic function using conventional echocardiographic parameters. The purpose of this study was to further investigate whether early functional changes can be detected using tissue Doppler imaging (TDI) and two-dimensional (2D) speckle tracking echocardiography (STE). Sixty-two children (median/range age 1.7 (1–9.8)?years) exposed to chemotherapy during fetal life were enrolled and compared to 62 age- and gender-matched controls. TDI velocities were measured at the basal interventricular septum (IVS) and right and left ventricular (LV) free walls. LV global longitudinal and circumferential systolic strains were derived using 2D STE. We found small but significant differences between the groups (patients versus controls) in LV fractional shortening [35 (29–46)% versus 39 (28–53)%, p?<?0.001], LV ejection fraction [66 (57–79)% versus 70 (57–83)%, p?<?0.001], LV posterior wall thickness z score [?0.15 (?2.32–1.81) versus ?0.10 (?1.9–2.0), p?<?0.001], and IVS thickness z score [?1.06 (?2.6–1.3) versus ?0.5 (?2.1–1.7), p?<?0.001]. No significant differences in TDI velocities or LV global strains were observed. Within the patient group, the cardiac functional parameters did not correlate to the number of cycles of anthracycline or the cumulative anthracycline dose. Children exposed to fetal chemotherapy have a lower normal fractional shortening and mildly lower left ventricular wall thickness. Tissue Doppler and strain measurements are within normal range and not statistically different from normal controls. The long-term implications of these findings will be further studied in this prospective cohort study.     

Myocardial performance in children with autoimmune hepatitis: Doppler tissue imaging study

Autoimmune hepatitis (AIH) is a member of autoimmune diseases family which can increase risk of cardiovascular morbidity and mortality. This study aimed to assess subclinical impact of AIH on global myocardial performance in affected children using Doppler tissue imaging (DTI) and to correlate it with total serum immunoglobulin-G (IgG). Thirty children with AIH (mean age?=?12.67?±?2.9 years) was included as the study group and 20 age- and sex-matched healthy children (mean age?=?11.93?±?2.66 years) as the control group. Conventional two-dimensional echocardiography was performed to both groups and DTI were used to determine right ventricular (RV) and left ventricular (LV) Tei indexes. Total serum IgG levels at initial diagnosis of AIH were correlated to the cardiac functions of AIH patients. RV and LV Tei indexes were significantly higher in AIH group (mean?±?SD: 0.46?±?0.088 vs. 0.26?±?0.01, P?<?0.0001 and 0.45?±?0.086 vs. 0.31?±?0.02, P?<?0.0001, respectively). Also, total IgG concentrations were correlated positively with the LV Tei index (r?=?0.69, P?<?0.0001) and with the RV Tei index (r?=?0.61, P?<?0.0003) and correlated negatively with the mitral systolic (Sm) velocity (r?=??0.76, P?<?0.0001) and with tricuspid systolic (Sm) velocity (r?=??0.66, P?<?0.0001). On the other hand, fractional shortening did not correlate with serum IgG concentrations (r?=??0.04, P?=?0.821). In conclusion, the DTI technique appears to be more sensitive than conventional echocardiography in the early detection of myocardial dysfunction in AIH children.     

Cardiotoxicity of Childhood Cancer Treatment: Update and Current Knowledge on Long-term Follow-up

Doxorubicin (DOX) has been used in the treatment of childhood cancers, but its usage is limited because of cardiotoxicity. There are many studies on the role of nitric oxide (NO) in several cardiac diseases. However, to the authors’ knowledge, no studies have investigated the plasma levels of total nitrite, a stable product of NO, in children that received DOX. The authors determined plasma total nitrite levels in 29 children who received DOX and investigated the correlations between these and other clinical and laboratory findings. All patients were in remission during the study period. Plasma total nitrite levels and cardiac functions were determined prospectively. The mean cumulative DOX dose was 310.0 ± 90.9 mg/m². In echocardiographic evaluation, 3 patients (10.3%) had a pathological value for ejection fraction (EF) and/or fractional shortening (FS), whereas 11 patients (37.9%) had a threshold value. Total nitrite levels were higher in patients than in matched controls (75.24 ± 39.4 vs 43.14 ± 10.58 μmol/L, respectively, P < .001). It was also found to be higher in patients who had a pathological/threshold value of EF and FS than in patients who had a physiological value of EF and FS (92.35 ± 50.36 vs 59.26 ± 13.56 μmol/L, respectively, P = .038). A negative correlation was found between FS and plasma total nitrite level (r = ?.42, P = .023). The authors speculate that increased NO may be a sign of subclinical cardiotoxicity of DOX.     

Improvement of left ventricular dysfunction after control of persistent tachycardia

Five children are described who had persistent, chronic tachycardia and left ventricular dysfunction manifested by decreased left ventricular percent fractional shortening on echocardiogram (five patients) cardiomegaly on chest roentgenogram (three), ventricular or atrial hypertrophy on ECG (three), and symptoms of congestive heart failure (three). After antidysrhythmia therapy and control of the tachycardia, signs and symptoms of congestive heart failure resolved in two infants. Moreover, in each patient signs of cardiomegaly resolved on chest roentgenogram, hypertrophy resolved on ECG, and the fractional shortening improved to normal (mean 20.2% +/- 2.4% SEM before vs 36.2% +/- 2.4%, P = 0.02, after treatment). Evaluation in the child who has dilated cardiomyopathy should include assessment of heart rate and rhythm. Moreover, when persistent tachycardia is found in an asymptomatic child, evaluation of left ventricular function is indicated.     

Heart Rate Variability Abnormalities in Young Patients With Dilated Cardiomyopathy

Heart rate variability (HRV) has become the conventionally accepted term for describing variations in both instantaneous heart rate and R-R intervals. In the pediatric age group, HRV has been investigated in healthy children, diabetics, respiratory distress syndrome of the newborn, and sudden infant death syndrome. This study aimed to evaluate HRV in pediatric patients with dilated cardiomyopathy and to compare it with that of age-matched normal subjects. The study evaluated 21 patients with dilated cardiomyopathy: 11 females (mean age, 7?±?4?years; range, 2-17?years) and 10 males (mean age, 10?±?6?years; range, 2-18?years). Dilated cardiomyopathy (DCM) was diagnosed according to commonly accepted criteria after a noninvasive cardiologic examination, echocardiography, and 24-h Holter monitoring (MR45 and MR45-3 Oxford recorder). The patients were divided into six groups according to age, sex, and type of cardiomyopathy. Heart rate variability was recorded and analyzed in the time domain. The patients with DCM showed an abnormal HRV pattern. Particularly in the 5-6-year-old male patient group, the HRV values all were significantly increased (p?=?0.05). In the 2-6-year-old female patient group, the mean cycle length, the standard deviation of all normal sinus R-R intervals during 24?h (SDNN), and the standard deviation of the average normal sinus R-R intervals for all 5-min segments (SDANN) were significantly increased (p?=?0.05). The 13-18-year-old female patient group showed a significant reduction in SDNN and the mean of the standard deviation of all normal sinus R-R intervals for all 5-min segments (SDNNi) (p?=?0.05). The modification of the HRV pattern in the time domain, partially age- and gender-dependent modification, may reflect an imbalance of the autonomic nervous system in children who show a delayed or reduced activity, such as pediatric patients with DCM.     

Psychological Morbidity in Children Undergoing Chemotherapy for Acute Lymphoblastic Leukemia

Diagnosis of leukemia causes severe stress in the child and family. Present work was carried out to study emotional and behavioral problems in children with acute lymphoblastic leukemia (ALL) undergoing chemotherapy. Psychopathology was assessed using childhood psychopathology measurement schedule (CPMS) in three groups of children aged 6–14 y: ALL, non-oncologic chronic disease (bronchial asthma) and minor ailment (control). Mean CPMS score in ALL group was 8.76?±?4.66 (range 1–20); in asthma group 5.72?±?3.13 (range 2–14) and 5.44?±?3.37 (range 1–13) in control group (p?<?0.01). Fourteen of 40 (35.0 %) children with ALL had a CPMS score of ≥10 as against 11 of 50 (22.0 %) in the chronic disease group. Children with ALL scored higher on the conduct disorder, depression and physical illness with emotional problems. Older age (10–14 y) and male gender had significant correlation with depression. Male children also had more conduct disorders.     

Evidence for autosomal recessive inheritance of infantile dilated cardiomyopathy: studies from the Eastern Province of Saudi Arabia

Familial dilated cardiomyopathy is being increasingly recognized, but affected individuals <10 y are rarely identified. We describe the natural history of dilated cardiomyopathy and evaluate the mode of inheritance among infants of Arab descent from the Eastern Province of Saudi Arabia. We evaluated 55 consecutive cases of dilated cardiomyopathy in patients <10 y of age seen during a 5-y interval. Echocardiography was the primary diagnostic modality. The 55 cases represented 20% of the offspring of 41 families of Arab descent. In 19 families (46%), parents were first cousins; there was no obvious consanguinity in 22 families (54%). Age at presentation was <30 mo (95%) (range, 1 to 100 mo); males (38%) and females (62%) were affected. Patients died (25 patients, 46%), improved (15 patients, 27%), or recovered (15 patients, 27%). The left ventricular shortening fraction at diagnosis ranged from 5 to 28% and did not differ in those who died, improved, or recovered. Complex segregation analysis of the family data using the mixed model of inheritance showed that a model of recessive inheritance best fits the data. Recessively inherited dilated cardiomyopathy has been infrequently reported, perhaps because it may be difficult to recognize in other patient groups in which consanguineous marriage is uncommon and the number of children per family is small. In the setting of consanguineous marriage, homozygosity mapping should lead to identification of the gene(s) causing dilated cardiomyopathy in the families we studied.