Several clinical and echocardiographic studies describe morphological and functional findings in patients with hypertrophic cardiomyopathy. Less is known regarding morphological and functional characteristics of the left ventricular hypertrophy found in the setting of the Noonan and LEOPARD syndromes.

To compare non-invasively the morphological and functional findings potentially affecting symptoms and clinical outcome in children with hypertrophic cardiomyopathy as opposed to Noonan and LEOPARD syndromes.

We studied by echo-Doppler 62 children with left ventricular hypertrophy, dividing them into two subgroups matched for age and body surface area. The first group, of 45 patients with a mean age of 7.5 ± 5.2 years and body surface area of 0.9 ± 0.44 mq, had idiopathic hypertrophic cardiomyopathy. The second group, of 17 patients, all had left ventricular hypertrophy in the setting of Noonan or LEOPARD syndromes. Their mean age was 6.6 ± 5 years, and body surface area was 0.8 ± 0.36 mq. In all patients, we assessed the left ventricular maximal mural thickness, expressed as a Z-score, along with any obstructions in the left and right ventricular outflow tracts. In addition, to define left ventricular diastolic function, we used mitral flow and pulsed Tissue Doppler to record the Ea, Aa, Ea/Aa, E/Ea indexes in the apical 4-chamber view at the lateral corner of the mitral annulus. We also measured the diameters of the coronary arteries in the diastolic frame.

Compared to those with hypertrophic cardiomyopathy, those with syndromic left ventricular hypertrophy showed a significantly increased Z-score for mural thickness, and a higher prevalence of obstruction in the left ventricular outflow tract. In addition, the patients with Noonan or LEOPARD syndromes showed a significantly decrease of Ea and increase of Aa, with a decreased Ea/Aa ratio, all suggestive of left ventricular abnormal relaxation. Moreover, the E/Ea ratio was significantly increased in these patients. The presence of right ventricular hypertrophy, mainly associated with dynamic obstruction in the outflow tract, was detected in only 5 of the 17 patients with Noonan or LEOPARD syndromes, as was dilation of the coronary arteries.

Compared to children with hypertrophic cardiomyopathy, those with left ventricular hypertrophy in the setting of Noonan or LEOPARD syndromes show more ventricular hypertrophy and diastolic dysfunction, due to both abnormal relaxation and reduced compliance. They also exhibit an increased prevalence of obstruction of the left ventricular outflow tract, along with dynamic obstruction of the right ventricular outflow tract and dilated coronary arteries. These morphological and functional findings could explain the different symptoms and clinical events, and potentially define the more appropriate therapeutic options in children with left ventricular hypertrophy of different aetiology.

Some centres have proposed creating the bidirectional cavopulmonary anastomosis without cardiopulmonary bypass, while others continue to use deep hypothermic circulatory arrest. The purpose of this review is to evaluate the results of using continuous cardiopulmonary bypass with moderate hypothermia, perhaps the most commonly used of the three techniques for this procedure.

Between 1990 and 2005, 114 patients, having a mean age of 1.58 years, with a median age of 8 months, and ranging from 3 months to 16 years, underwent creation of either a unilateral cavopulmonary anastomosis, in 94 cases, or bilateral anastomoses in 20 cases. All had continuous cardiopulmonary bypass with moderate hypothermia at 32 degrees Celsius, with 24 also having aortic cross-clamping with cardioplegia for simultaneous intracardiac procedures. Interrupted absorbable sutures were used to create the anastomosis in 105 patients.

Perioperative mortality was 5%, with 6 of the patients dying. The mean period of cardiopulmonary bypass for an isolated anastomosis was 91 minutes, with a range from 44 to 160 minutes. In 10 patients (8.8%), it was necessary to place a graft to augment the anastomosis. The average postoperative length of stay was 7.9 days for those undergoing an isolated unilateral anastomosis, and 16.4 days for patients undergoing combined cardiac operations. We have now created the Fontan circulation in 79 of the patients, at an average interval from the bidirectional cavopulmonary anastomosis of 2.1 plus or minus 1.14 years. In 76 patients, we performed postoperative angiograms, and none revealed any stenoses.

The bidirectional cavopulmonary anastomosis can be performed successfully with continuous cardiopulmonary bypass and moderate hypothermia with a beating heart, avoiding circulatory arrest. The use of interrupted and absorbable sutures was not associated with any late anastomotic stenosis.

Administrative databases are often used for congenital cardiac disease research and evaluation, with little validation of the accuracy of the diagnostic codes.

Metropolitan Atlanta Congenital Defects Program surveillance records were reviewed and classified using a version of the International Pediatric and Congenital Cardiac Code. Using this clinical nomenclature as the referent, we report the sensitivity and false positive fraction (1 – positive predictive value) of the International Classification of Diseases, Ninth Revision, Clinical Modification diagnosis codes for tetralogy of Fallot, transposition of the great arteries, and hypoplastic left heart syndrome.

We identified 4918 infants and foetuses with congenital cardiac disease from the surveillance records. Using only the International Classification of Diseases diagnosis codes, there were 280 records with tetralogy, 317 records with transposition, and 192 records with hypoplastic left heart syndrome. Based on the International Pediatric and Congenital Cardiac Code, 330 records were classified as tetralogy, 163 records as transposition, and 179 records as hypoplastic left heart syndrome. The sensitivity of International Classification of Diseases diagnosis codes was 83% for tetralogy, 100% for transposition, and 95% for hypoplastic left heart syndrome. The false positive fraction was 2% for tetralogy, 49% for transposition, and 11% for hypoplastic left heart syndrome.

Analyses based on International Classification of Diseases diagnosis codes may have substantial misclassification of congenital heart disease. Isolating the major defect is difficult, and certain codes do not differentiate between variants that are clinically and developmentally different.

We aimed, in this study, to compare dispersion of the p wave in patients with type 1 diabetes to nondiabetic control subjects, and to investigate the relationship between the dispersion of the p wave and cardiac autonomic dysfunction in diabetic children.

We enrolled 49 patients with type 1 diabetes, and 32 age- and sex-matched healthy subjects, measuring the Valsalva ratio, resting heart rate, and orthostatic hypotension in all. The duration of the p wave was measured manually on a high-resolution computer screen. Dispersion, defined as the difference between maximum and minimum durations of the p waves, was also measured in the 12-lead electrocardiogram before and after the Valsalva maneuver.

The mean age of the patients and their controls were 14.2 ± 4.8 years, and 12.7 ± 4.5 years, respectively. The mean duration of diabetes had been 6.2 ± 4.6 years. Maximal and minimal values for the duration of the p wave were significantly decreased in the diabetic children, with the dispersion itself significantly increased. Values for the dispersion in the diabetic subjects were similar before and after the Valsalva maneuver, whereas dispersion was found significantly increased after this maneuver in the controls. The differences in the Valsalva ratio, resting heart rate, and orthostatic hypotension between the groups, on the other hand, were not found to be statistically significant.

The noted increase in the dispersion of the p wave in diabetic children reveals the onset of cardiac electrophysiological heterogeneity before it is possible to detect parasympathetic and sympathetic dysfunction with other tests.

The number of adults with congenitally malformed hearts is growing, and there is an increasing demand for their continuous follow-up. At present, different programmes have been established for adults with congenital cardiac disease, but there is a lack of knowledge regarding how education and psychosocial support should be given to achieve effects. Before developing educational programmes, it is necessary to be aware of the perspective of the patients. The aim of our study, therefore, was to describe how adults with congenitally malformed hearts experience their educational needs.

The study had a qualitative design. We interviewed 16 adults, aged from 19 to 55 years, with congenitally malformed hearts.

Two-way communication emerged as crucial to individualising education. Without good communication, those with congenitally malformed hearts, receiving information from providers of healthcare, are unable to transfer the information received. Thus, individualised education gives access to knowledge and the tools required to manage important areas in life, such as the congenital cardiac malformation, physical activity, the situation of life, treatment, and resources available for healthcare. The information given should provide easy access to knowledge through proper educational materials and methods, and be given with respect for the individual. This is facilitated if the education is tailored to the requirements of the individual in a holistic approach, and is provided through good communication.

Our investigation shows that a structured educational programme needs to start from the perspective of the individual patient, and that two-way communication needs to be taken into consideration to enhance knowledge.

Certain congenital cardiac defects may go undetected for several years due to lack of symptoms and signs. Our purpose was to determine the prevalence of such defects among children greater than one year of age.

The study was performed on subjects diagnosed with systemic hypertension, aged from 1 to 19 years, with a mean of 12.4 years, in whom we performed echocardiography, using a standard protocol, to establish any end-organ damage or to reveal any congenital cardiac defects.

We found a congenital cardiac defect in 5 (3.5%) of the 143 children evaluated. Of these, 4 had not previously been detected, specifically Ebsteins malformation of the tricuspid valve, with moderate regurgitation, a coronary arterial anomaly, a bicuspid aortic valve, and prolapse of the mitral valve permitting regurgitation. In the other patient, we found a non-significant tiny muscular ventricular septal defect.

Our transthoracic echocardiographic investigation revealed previously unsuspected congenital cardiac defects in 4 of 143 older children, with 3 of these requiring further management by a paediatric cardiologist. A similar prevalence has also been reported in older children evaluated echocardiographically for other diseases such as insulin-resistance and leukemia. Hence, it is possible that the prevalence of congenitally malformed hearts is higher than previously reported. When clinically indicated, clinicians should more readily consider obtaining an echocardiogram to help in the identification of such malformations.

The policy of early repair of patients with tetralogy of Fallot, irrespective of age, as opposed to initial palliation with a shunt, remains controversial. The aim of our study was to analyze the midterm outcome of primary early correction of tetralogy of Fallot.

Between 1996 and 2005, a total of 61 consecutive patients less than 6 months of age underwent primary correction of tetralogy of Fallot in two institutions. The median age at surgery was 3.3 months, and 27 patients (44%) were younger than 3 months of age, including 12 (20%) newborns. We analyzed the patients in 2 groups: those younger than 3 months of age, and those aged between 3 and 6 months.

There was one early (1.6%), and one late death. Actuarial survival was 98.4%, 96.7%, 96.7% at 1, 5, and 10 years respectively, with a median follow up of 4.5 years. There was no difference in survival, bypass time, lengths of ventilation, and hospital stay between the groups. A transjunctional patch was placed significantly more often in the patients younger than 3 months (p = 0.039), with no adverse effect on survival and morbidity during the follow-up. Freedom from reoperation was 98.2%, 92.2%, and 83% at 1, 5, and 10 years respectively, with no difference between the groups.

Elective primary repair of tetralogy of Fallot in asymptomatic patients is delayed beyond 3 months of age. In symptomatic patients, primary repair of tetralogy of Fallot is performed irrespective of age, weight and preoperative state. This approach is safe, and provides an excellent midterm outcome with acceptable morbidity and rates of reintervention. The long-term benefits of this approach must be established by careful follow-up, with particular emphasis on arrhythmias, right ventricular function, and exercise performance.

Postconditioning by brief episodes of ischaemia performed just at the time of reperfusion have been shown to reduce the size of infarcts in animal models, and in the clinical setting of percutaneous cardiac intervention. The clinical applicability of postconditioning in cardiac surgery remains to be determined. We investigated the effect of postconditioning on myocardial protection in children undergoing cardiac surgery.

We randomly assigned 40 patients scheduled for surgical correction of congenitally malformed hearts under cold blood cardioplegic arrest to postconditioning or control treatment. Postconditioning was performed by two cycles of 30 seconds ischaemia and 30 seconds reperfusion using aortic reclamping, and declamping started 30 seconds after cardioplegic arrest. We assayed creatine kinase-MB, troponin I, transcardiac release of lactate and neutrophil counts.

The types of procedure, age, bypass and aortic cross-clamping times were similar in both groups. The postoperative peaks of creatine kinase-MB and troponin I were lower after aortic de-clamping in the postconditioned patients compared with their controls (128 ± 48 units per liter as opposed to 199 ± 79 units per liter, p = 0.016, and 0.34 ± 0.21 nanograms per milliliter as opposed to 0.61 ± 0.53 nanograms per milliliter, p = 0.05), with reduced inotropic scores in those submitted to postconditioning compared with their controls (4.8 ± 3.1 versus 2.3 ± 1.5, p = 0.036). Transcardiac release of lactate was reduced in the postconditioned patients compared with their controls (0.10 ± 0.27 as opposed to 0.37 ± 0.43 millimols per liter, p = 0.048). No differences between groups were found for transcardiac neutrophil count during reperfusion (10.8 ± 6.3% for postconditioning versus 14.0 ± 8.7% for controls, p = 0.48).

Our study demonstrates that postconditioning may protect the myocardium of children undergoing cold blood cardioplegic arrest. These data support the need for a larger clinical trial of postconditiong in children undergoing cardiac surgery.

To identify factors contributing to missed diagnosis of aortopulmonary windows on initial echocardiographic examination; and to analyze lesions associated with these malformations.

Retrospective study where echocardiographic findings and per-operative findings of patients were correlated by reviewing records.

Tertiary-care paediatric cardiac centre.

From May 2002 to September 2007, we diagnosed 50 patients with aortopulmonary windows. The group included 31 boys and 19 girls. Mean age at intervention was 1.7 years, with a range from 3 months to 17 years.

The diagnosis of aortopulmonary window was made correctly by echocardiography during initial evaluation in 46 of 50 patients (92%). The remaining 4 patients were diagnosed either during repeat echocardiographic evaluation, cardiac catheterization, or per-operatively. We describe the details of these patients. Of the 50 patients, 23 had associated malformations, including ventricular septal defects in 10 patients, patent arterial ducts in 9, atrial septal defects or patent oval foramens in 5, 3 of whom also had patent arterial ducts, interruption of the aortic arch at the isthmus in 4, or between the left subclavian and common carotid arteries in 2, tetralogy of Fallot in 2, double-outlet right ventricle in 2, discordant ventriculo-arterial connections in 2, 1 of whom also had anomalous origin of the left coronary artery from the pulmonary trunk, and superior-inferior ventricles in 1 patient.

Even meticulous echocardiography may result in a false negative diagnosis of an aortopulmonary window. A high index of suspicion for this lesion is warranted in cases of unexplained severe pulmonary arterial hypertension, and/or unexplained cardiac dilation.

Altered levels of coagulation factors are reported in patients with functionally univentricular physiology before and following the second and third stages of reconstructive surgery. The aims of our study were to determine if such abnormalities are also present in newborns with this physiology prior to the first stage of surgical treatment.

We studied 20 neonates with functionally univentricular physiology admitted to the Children’s Cardiac Centre in Slovakia, using 20 healthy neonates as age-matched controls. Demographic characteristics, and concentration of liver enzymes, serum albumin, and complete blood count, did not differ between the two groups. Concentrations of Factor II, V, VII, VIII, Protein C, Protein S and Antithrombin were compared between the groups, and assessed as variable factors for coagulation.

In those with functionally univentricular physiology, procoagulation Factor II (p < 0.001), VII (p < 0.001), VIII (p < 0.01), anticoagulation Protein C (p < 0.001), Protein S (p < 0.001) and Antitrombin III (p < 0.001) all were present in significantly lower values compared with findings in the control group. D-dimer (p < 0.0001) and Fibrin Degradation Products (p < 0.0001) were present at significantly higher levels, but the concentration of plasminogen was significantly lower (p < 0.0001). The activated partial thromboplastin time (p < 0.012), and the prothrombin time (p < 0.0001), was significantly prolonged in those with functionally univentricular physiology compared with their controls.

The presence of abnormal coagulation factors, markers of thrombolysis in the plasma, and increased risk of bleeding, suggests activation of haemostasis, and consumption of factors responsible for coagulation, in those with functionally univentricular physiology. The question arises whether the reported abnormalities are predictive of the known abnormalities of coagulation occurring during the second and third stages of surgical repair for patients with functionally univentricular hearts.

There is a great need for echocardiographic criterions for accurate diagnosis of carditis in acute rheumatic fever.

To test the efficacy of proposed echocardiographic criterions for the diagnosis of carditis.

We studied 333 patients suspected of having acute rheumatic fever, undertaking detailed clinical examination, laboratory tests and meticulous echocardiography in each case. We used previously established echocardiographic criterions for the diagnosis of carditis and subclinical valvitis. In 220 cases (66.06%), both the echo criterions, and the Jones’ criterions, gave positive results. In 52 cases (15.61%), we found evidence of subclinical carditis, in that clinically no murmur was heard, meaning the Jones’ criterions were negative, but the echocardiographic evaluation was positive. In 4 patients clinically diagnosed as having carditis, the Jones’ criterions were positive, but echocardiographic evaluation showed them to have congenitally malformed hearts. In another 57 cases (17.11%), the Jones’ criterions were negative, as were the results of echocardiographic evaluation. These patients were taken as control subjects. On this basis, the echocardiographic criterions had sensitivity of 81% and specificity of 93%.

Using our echocardiographic criterions, it is possible to make a precise diagnosis of carditis or subclinical valvitis. Hence, echocardiography should, in future, be included as a major criterion in the Jones’ system.

Stenoses in the pulmonary arterial system can have a significant negative impact on the early postoperative course in infants. Early recognition and aggressive management are mandatory.

We describe our experience with 8 infants, with ages ranging from 3 to 9 months, weighing from 4.5 to 7.7 kilograms, who presented in the up to 18 days following construction of a shunt from the superior caval vein to the pulmonary arteries with clinical symptoms of obstructed pulmonary flow. We include also 2 infants in whom pulmonary arterial stents were implanted in the operating room. Cardiac catheterization showed significant stenoses or occlusion of the left pulmonary arteries in 9 infants, the right pulmonary arteries in 2, or the superior caval vein in 1, the investigation being prompted by the findings of supraphysiological superior caval venous pressures and systemic hypoxaemia. We implanted a variety of stents mounted on balloons ranging in diameter from 6 to 13 millimetres, with 7 placed across a newly created surgical anastomotic site.

All stenoses were crossed successfully, and stents implanted satisfactorily in all patients, albeit that 1 infant suffered an acute tear of the left pulmonary artery, requiring immediate reoperation. This patient died 72 hours later due to a diffuse coagulopathy. All other patients demonstrated sustained clinical improvement following the procedure. At follow-up, 7 of the 9 survivors have progressed to completion of the Fontan circulation. Redilation of the stents was required in the interim, prior to completion of the Fontan circulation, in 4 of them. In 2 patients, the previously implanted stents were incised during the Fontan completion, permitting placement of the extracardiac Goretex conduit from the inferior caval vein to the pulmonary arteries.

Stents can successfully be implanted perioperatively in the pulmonary arterial system during infancy, and redilated, with improvement in clinical outcome in the majority of those with clinically relevant obstruction.