Isolated ventricular non-compaction is an increasingly commonly diagnosed myocardial disorder characterised by excessive and prominent trabeculation of the morphologically left, and occasionally the right, ventricle. This is associated with high rates of thromboembolism, cardiac failure, and cardiac arrhythmia. Recent improvements in understanding the embryonic processes underlying ventricular formation have led to the hypothesis that ventricular non-compaction is due to a failure of normal ventriculogenesis, leading to abnormal myocardium which may present clinically many years later. Experimental work in animal models provides several candidate transcription factors and signalling molecules that could, in theory, cause ventricular non-compaction if disrupted.

“When the history of congenital heart disease comes to be written, Brown will be given a high and honourable place along with Farre, Peacock, Fallot, Théremin, Vierordt, and Maude Abbott, as one whose labours have contributed vitally to the subject.”1

Background: Diseases of the lungs and airways can be life-threatening in patients with congenital cardiac disease. External compression, and tracheobronchomalacia, as well as pathology of the large airways, can cause respiratory symptoms such as wheezing, stridor, fever, and dyspnoea, along with producing difficulty to wean the patient from mechanical ventilation. A definite diagnosis may be achieved by fibreoptic flexible bronchoscopy. Aims: To characterize the patients who underwent bronchoscopy for respiratory diseases associated with congenital cardiac disease, and to evaluate the safety, total diagnostic rate, and diagnostic rate, which yielded alteration of treatment in this group of patients. Methods: We reviewed retrospectively the records of 39 patients with congenital cardiac disease associated with abnormalities of the airways who underwent 49 fibreoptic bronchoscopies between 1999 and 2004. The patients were evaluated with regard to rate of diagnosis, the rate of procedures that resulted in alteration of management, and the rate of complications. Results: Fibreoptic flexible bronchoscopy was safe, and contributed to a specific diagnosis in almost nine-tenths of the procedures. A specific diagnosis that resulted in treatment alteration was achieved in one-fifth of the procedures. Conclusions: Fibreoptic flexible bronchoscopy has an important role in the evaluation of pulmonary abnormalities in patients with congenital cardiac diseases, and should be considered as an initial diagnostic tool that may guide the clinician with regard to the proper therapy.

Introduction: A recent modification to the Norwood procedure involving a shunt placed directly from the right ventricle to the pulmonary arteries may improve postoperative haemodynamics. Concerns remain, however, about the potential problems produced by the required ventriculotomy. Methods: We compared 76 patients with hypoplastic left heart syndrome who underwent the Norwood procedure, 35 receiving a modified Blalock-Taussig shunt and the remaining 41 a shunt placed directly from the right ventricle to the pulmonary arteries. We reviewed their subsequent progress through the second stage of palliation. A single observer graded right ventricular function, and the severity of tricuspid regurgitation, based on blinded review of the most recent echocardiograms prior to the second stage of palliation. Results: At the time of catheterization prior to the second stage, patients with a shunt placed from the right ventricle to the pulmonary arteries, rather than a modified Blalock-Taussig shunt, had higher arterial diastolic blood pressure, at 44 versus 40 millimetres of mercury, p equal to 0.02, lower ventricular end diastolic pressures, at 8 versus 11 millimetres of mercury, p equal to 0.0002, and larger pulmonary arteries as judged using the Nakata index, at 270 versus 188 millimetres squared per metres squared, p equal to 0.009. There was no difference in qualitative ventricular systolic function or tricuspid regurgitation between groups. No differences were found between groups during the hospitalization following the second stage of palliation. A trend towards improved survival to the second stage was seen following the construction of a shunt from the right ventricle to the pulmonary arteries. Conclusions: Construction of a shunt from the right ventricle to the pulmonary arteries is associated with lower right ventricular end diastolic pressures, larger pulmonary arterial size, and higher systemic arterial diastolic pressures. No apparent deleterious effects of the right ventriculotomy were observed in terms of qualitative ventricular systolic function or tricuspid regurgitation.

Objective: To assess a novel method for assessing risk and providing advice about activity to children and young people with congenital cardiac disease and their parents. Design and setting: Questionnaire survey in outpatient clinics at a tertiary centre dealing with congenital cardiac disease, and 6 peripheral clinics. Interventions: Children or their parents completed a brief questionnaire. If this indicated a desire for help, or a serious mismatch between advised and real level of activity, they were telephoned by a physiotherapist. Main measures of outcome: Knowledge about appropriate levels of activity, and identification of the number exercising at an unsafe level, the number seeking help, and the type of help required. Results: 253/258 (98.0%) questionnaires were returned, with 119/253 (47.0%) showing incorrect responses in their belief about their advised level of exercise; 17/253 (6.7%) had potentially dangerous overestimation of exercise. Asked if they wanted advice 93/253 (36.8%) said “yes”, 43/253 (17.0%) “maybe”, and 117/253 (46.2%) “no”. Of those contacted by phone to give advice, 72.7% (56/77) required a single contact and 14.3% (11/77) required an intervention that required more intensive contact lasting from 2 up to 12 weeks. Of the cohort, 3.9% (3/77) were taking part in activities that put them at significant risk. Conclusions: There is a significant lack of knowledge about appropriate levels of activity, and a desire for further advice, in children and young people with congenital cardiac disease. A few children may be at very significant risk. These needs can be identified, and clinical risk reduced, using a brief self-completed questionnaire combined with telephone follow-up from a suitably knowledgeable physiotherapist.

Background: In patients with discordant atrioventricular and ventriculoarterial connections, anatomic repair restores the morphologically left ventricle to its role in supporting the systemic circulation. In this study, we have evaluated the outcomes in the intermediate term for this complex surgical procedure. Methods: Between December 1984 and October 2003, 4 patients underwent an atrial switch operation concomitantly with a Rastelli operation, and 2 patients underwent an atrial switch operation and a patch-plasty of the pulmonary outflow tract for anatomic repair at a mean age of 3.3 plus or minus 2.1 years. All patients had intracardiac rerouting, connecting the morphologically left ventricle to the aorta. Results: There were no hospital deaths. In 5 patients, reoperation was needed, either for baffle complications, exchange of the conduit, repair of a residual ventricular septal defect, or relief of obstruction within the left ventricular outflow tract. Death occurred in 1 patient, from cardiac failure 6 months after correction. Mean follow-up time was 6.5 plus or minus 6.4 years, with a range from 6 months to 17 years. At follow-up, 1 patient presented with moderate tricuspid insufficiency, and 1 patient with mild obstruction of the pulmonary venous pathway. The remaining 3 patients showed good left and right ventricular function, and no, or mild tricuspid and mitral insufficiency. Conclusions: Anatomic repair can be performed with low hospital mortality. Restoration of the morphologically left ventricle into the systemic circulation in patients with discordant atrioventricular and ventriculoarterial connections is a demanding approach, associated with various reoperations over time. Despite this, the approach seems to be an appropriate solution for selected patients, since the majority of the patients show good left and right ventricular function, and no, or mild tricuspid and mitral insufficiency up to 17 years after correction.

Background and aim: Reports from several countries suggest that the prevalence and spectrum of the congenital cardiac malformations seen in the setting of Down's syndrome vary in different ethnic groups and countries, and at different periods in the same country. Data on Arab children are lacking. Our study aimed to fill that void by ascertaining the pattern in Omani Arabs. Methods: Prospective clinical and echocardiographic evaluation of consecutively recruited Omani children with Down's syndrome. Results: We studied 110 children, aged from one day to 11 years, with a median of 2 months, detecting 76 cardiovascular malformations in 63 (57%) of them. Atrioventricular septal defect, the most prevalent lesion, accounted for 24 (32%) of the 76 defects. Next were atrial septal defects within the oval fossa (29%), patency of the arterial duct (17%), and ventricular septal defect (14%). There were only two cases of Fallot's tetralogy, one each of coarctation of the aorta and right-sided heart, respectively; and none of discordant ventriculo-arterial connections. Conclusion: The prevalence of cardiovascular malformations is high, at 57%, in our studied population of Arab children. Overall, 92% of the malformations are defects which are characterized by a left-to-right shunt, and the potential for pulmonary hypertension. These findings underscore the need for early detection and prompt, appropriate care. To achieve this, if feasible, all babies born with Down's syndrome should have echocardiography in the first month of life.

Introduction: An association between mitral valvar prolapse and low body mass index has been proposed. The goal of this study was to evaluate this suggested association using two independent and large databases. For comparison, we evaluated the association, if any, between bicuspid aortic valve and low body mass index. Methods: We retrospectively analyzed, using uni- and multivariate analysis, 1742 echocardiograms that were performed as a part of a cardiac screening of teenage athletes and 24,265 echocardiograms performed between 1984 and 1998 for various clinical indications. Results: The first database included a total of 12,926 (53%) female and 11,339 (47%) male patients. The second database included a total of 1172 male (67%) and 570 female (33%) high school athletes. Mitral valvar prolapse was independently associated with low body mass index in addition to mitral regurgitation in both data bases. An index less than 30 occurred in 78 of 13,874 (0.6%) as opposed to 7 of 3236 (0.2%) in the echo data base, p equal to 0.03, odds ratio: 2.4 confidence intervals: 1.1–5.2, and an index less than 20 occurred in 7 of 354 (2%) as opposed to 6 of 944 (0.6%) in the athletic data base, p equal to 0.03, odds ratio: 3.2 confidence intervals: 1.05–9.5. The finding of a bicuspid aortic valve did not have any association with low body mass index. Conclusion: In our two independent databases, mitral valvar prolapse was independently associated with low body mass index in addition to mitral and tricuspid regurgitaton. The cause of this association remains unknown.

Background: Idiopathic dilated cardiomyopathy in children has a high rate of mortality. Cardiac transplantation is the treatment of choice in those who fail to respond to therapeutics. Several studies have been carried out to determine unfavourable prognoses, and to provide an early indication for cardiac transplantation. Nevertheless, no consensus has been reached on the matter. Objective: To propose predictors of death in children with idiopathic dilated cardiomyopathy. Methods: We reviewed data extending over 22 years from 142 consecutive children with idiopathic dilated cardiomyopathy, of whom 36 died. The criterions for inclusion were the presence of congestive heart failure or cardiomegaly in a routine chest X-ray, confirmed by enlargement and hypo kinesis of the left ventricle in the echocardiogram. We included asymptomatic children in functional class I. Based on Cox's analysis of clinical and laboratory data, we sought any predictors of death. Results: In univariate analysis, the predictors were functional class IV at presentation (p equal to 0.0001), dyspnoea (p equal to 0.0096), and reduced pedal pulses (p equal to 0.0413). In chest X-ray, they were maximal cardiothoracic ratio (p equal to 0.0001) and pulmonary congestion (p equal to 0.0072). In the electrocardiogram, right atrium overload (p equal to 0.0118), ventricular arrhythmias (p equal to 0.0148) and heart rate (p equal to 0.027). In the echocardiogram, mitral regurgitation of grade 3 to 4 (p equal to 0.002), the left atrial to aortic ratio (p equal to 0.0001), and left ventricle ejection fraction (p equal to 0.0266). In multivariate analysis, the independent predictors were maximum cardiothoracic ratio (p equal to 0.0001), left ventricle ejection fraction (p equal to 0.0013), mitral regurgitation of grade 3 or 4 (p equal to 0.0017), functional class IV at presentation (p equal to 0.0028), and ventricular arrhythmias (p equal to 0.0253). Conclusion: Children, who have these predictors of death should be considered for early heart transplantation when no improvement is observed in clinical treatment.

Abuse of alcohol during pregnancy is known to cause alcoholic embryopathy and congenital cardiac disease. We sought to establish if there were any cardiac abnormalities to be found in patients known to have alcoholic embryopathy, but with structurally normal hearts. We reviewed the electrocardiograms and echocardiographic data of 347 such patients without congenital cardiac disease. A shortened QT interval was found in half of the cases. The left ventricular diameter was small in one quarter of all patients, independent from age, gender, and the degree of alcoholic embryopathy. We conclude that intrauterine exposure to alcohol as a primary toxin can lead to minor cardiac abnormalities, even in the absence of structural congenital cardiac disease.

Microcephaly is a marker of abnormal fetal cerebral development, and a known risk factor for cognitive dysfunction. Patients with hypoplastic left heart syndrome have been found to have an increased incidence of abnormal neurodevelopmental outcomes. We hypothesized that reduced cerebral blood flow from the diminutive ascending aorta and transverse aortic arch in the setting of hypoplastic left heart syndrome may influence fetal growth of the brain. The purpose of our study, therefore, was to define the prevalence of microcephaly in full-term infants with hypoplastic left heart syndrome, and to investigate potential cardiac risk factors for microcephaly. We carried out a retrospective review of full-term neonates with hypoplastic left heart syndrome. Eligible patients had documented indexes of birth weight, and measurements of length, and head circumference, as well as adequate echocardiographic images for measurement of the diameters of the ascending aorta and transverse aortic arch. We used logistic regression for analysis of the data. A total of 129 neonates met the criterions for inclusion, with 15 (12%) proving to have microcephaly. The sizes of their heads were disproportionately smaller than their weights (p less than 0.001) and lengths (p less than 0.001) at birth. Microcephaly was associated with lower birth weight (p less than 0.001), lower birth length (p equal to 0.007), and a smaller diameter of the ascending aorta (p equal to 0.034), but not a smaller transverse aortic arch (p equal to 0.619), or aortic atresia (p equal to 0.969). We conclude that microcephaly was common in this cohort of neonates with hypoplastic left heart syndrome, with the size of the head being disproportionately smaller than weight and length at birth. Microcephaly was associated with a small ascending aorta, but not a small transverse aortic arch. Impairment of somatic growth may be an additional factor in the development of microcephaly in these neonates.

Neonates with congenital cardiac disease are a special population. They are often critically ill, and need prolonged intravenous access. To date, no study has evaluated the efficacy and safety of peripherally inserted central venous catheters placed in this unique population. Our goal was to evaluate the use of such catheters in neonates with critical congenital cardiac disease, and to study features such as duration of use, reasons for removal of catheters, and complications. We inserted a total of 124 catheters in 115 neonates with critical congenital cardiac disease who were admitted to the Intensive Care Unit at Texas Children's Hospital from August 2002 to August 2004. The patients had a mean age of 10 days, and a mean weight of 3.1 kilograms. The peripherally inserted catheters were in place for a mean of 22.3 days. Therapy was completed in 76.6% patients at the time of removal of the catheter. The incidence of occlusion, dislodgement, and thrombus was 4.0%, 2.4%, and 1.6%, respectively. The infection rate was 3.6 per 1000 catheter-days, with a median onset on 37 days after placement. We conclude that central venous catheters, when inserted peripherally, provide reliable and safe access for prolonged intravenous therapy in neonates with critical congenital cardiac disease.

Objective: To study the adaptive potential of the right ventricular myocardium after 30 days of mechanical-induced overload in rats from two different age groups. Materials and methods: We banded the pulmonary trunk, so as to increase the systolic work load of the right ventricle, in 19 adult Sprague-Dawley rats at the age of 10 weeks, and 16 weanlings when they were 3 weeks-old, using 10 adults and 10 weanlings as controls. We analysed the functional adaptation and structural changes of the right ventricular myocardium, blood vessels and interstitial tissue after 30 days of increased afterload. Results: The increased workload induced an increase of the right ventricular weight and free wall thickness in animals from both age groups when compared to controls. These changes were mostly related to cardiomyocytic hypertrophy, as confirmed by the expression of myocardial hypertrophic markers, without any apparent increase of their number, a “reactive” fibrosis especially evident in the adult rats, with p-value less than 0.0001, and a more extensive neocapillary network in the weanlings compared to the adults aubsequent to banding, the p-value being less than 0.0001. Conclusion: In response to right ventricular afterload, weanlings showed a higher adaptive capillary growth, which hampered the development of fibrosis as seen in the adult rats. Age seems to be a risk factor for adverse structural-functional changes of right ventricle subjected to increased workload.

We describe a child with tricuspid atresia associated with a porto-systemic shunt and complete absence of the portal vein, the latter known as the Abernethy malformation. As far as we are aware, this association has not previously been reported. We review the various cardiac defects that have been reported in children with the Abernethy malformation, emphasizing the interesting clinical presentations of this rare malformation of the portal venous system.

Dilated cardiomyopathy as seen in children is clinically and genetically heterogeneous, with an increasing proportion of cases known to be caused by disorders of single genes. An autosomal recessive syndrome with a high incidence of dilated cardiomyopathy was recently described in the Canadian Dariusleut Hutterite population. It is caused by homozygous mutations in a novel gene, DNAJC19, presumed to play a role in importation of mitochondrial proteins. We discuss the cardiac features of this syndrome, and its relationship to cardiac mitochondrial function.

We report the very unusual perforation of the mitral valve in the setting of Sweet's syndrome, or acute febrile neutrophilic dermatosis, in a boy aged 5 years. Surgical repair was uneventful, and follow-up showed no residual anomalies. Acute or delayed valvitis, with damage to either the mitral or aortic valves, should be screened for in this rare disease.

Manipulation of an implanted pacemaker by the patient is a rare cause of malfunction, especially in children. We describe a child who inadvertently rotated his pacemaker under the skin, knotting the leads and dislodging them from the heart, leading to syncope and heart block. Our experience with this case underscores the need to consider this diagnosis in children as well as in adults if this problem is to be averted.

We discuss a 9-month-old male baby, submitted to surgery for correction of aortic coarctation, who showed severe bronchospasm, hypoxaemia, and cardio-respiratory arrest, and who died on the fifth postoperative day. The autopsy revealed histological signs of severe pulmonary vasoconstriction, possibly as a consequence of hypoxaemia secondary to bronchiolitis due to infection with the respiratory syncytial virus. This supposition was confirmed when viruses were detected in pulmonary tissue by immunohistochemistry and electron microscopy.