Dysfunction of the autonomic nervous system, or dysautonomia, is an uncommon disease. Postural orthostatic tachycardia syndrome is one of the several types of dysautonomia. Postural orthostatic tachycardia syndrome, also known as chronic orthostatic intolerance, is the most common but least severe of the dysautonomic disorders; it will serve as the model for evaluation and management of the other dysautonomias. Overall, these patients can have variable dysfunction of the autonomic nervous system that is more severe than that observed in typical neurocardiogenic syncope. Frequently, providers are not familiar with either the evaluation or the management of this syndrome, or are just not interested in doing so. This article attempts to describe strategies for evaluation and management of postural orthostatic tachycardia syndrome. The diagnosis of postural orthostatic tachycardia syndrome is made by the finding of orthostatic intolerance associated with a pulse greater than 120 beats per minute in the first 10 minutes of upright position or an elevation in pulse greater than 30 beats per minute in the first 10 minutes of upright position. Overall, these patients can have variable dysfunction of the autonomic nervous system that is more severe than that seen in typical neurocardiogenic syncope. A wide variety of associated symptoms may exist and these symptoms can have tremendous impact on the lives of the patients and their families. Management of these patients can be difficult as well as rewarding. It is helpful to perform an extensive education up front with these patients and their families. Interventions for patients with postural orthostatic tachycardia syndrome typically fall into two broad categories: non-pharmacological and pharmacological. Non-pharmacological therapies are varied, but are based primarily on ensuring adequate status of intravascular fluid. Polypharmacy may be required to control symptoms associated with postural orthostatic tachycardia syndrome. On account of the severity of their symptoms, these patients frequently have difficulty in completing their school assignments. The physician may need to help support the attempts of the family to work with the school to help the patient stay in school. As postural orthostatic tachycardia syndrome is underdiagnosed and poorly understood, it is a disease that provides an excellent opportunity to perform research. The most important studies would be those that aim to elucidate an aetiology and a pathophysiology of postural orthostatic tachycardia syndrome. In the final analysis, the role of the cardiologist in the evaluation and management of a patient with dysautonomia is to help a patient with severe disability to feel as if they are normal, or much closer to it.

Scimitar syndrome is a rare condition often with a separate systemic arterial supply from the abdominal aorta. Occlusion of this systemic arterial supply is frequently performed, though it can be difficult in small patients or in those with tortuous vessels. This case documents use of the new Amplatz vascular plug IV for arterial occlusion. It has major advantages in being able to deliver the device through a 4F catheter without the need to upsize to a dedicated delivery sheath. This is particularly appealing to paediatric practice or to those with difficult anatomy in older patients.

We assessed the thickness of the normal left ventricular wall according to gender by performing twodimensional echocardiography in children. While a few studies have evaluated left ventricular wall thicknesses in children using two-dimensional echocardiography, there is little information related to the influence of gender throughout childhood. We evaluated 251 patients (128 males and 123 females) with innocent murmurs but without congenital heart anomalies, or coronary artery lesions or arrhythmias, as determined by repeated echocardiographic, and electrocardiographic examinations. Intra-ventricular septal thicknesses at end-diastole and end-systole, and left ventricular posterior thicknesses at end-diastole and end-systole were determined in the parasternal short-axis view. Significant gender differences were observed in the thickness of all four measurements. There was a linear relationship between the thickness of the left ventricular wall and height. Height was the most appropriate and practical index for assessing the thickness of the wall of the left ventricle in children.

The literature has scant documentation of the relationship between the important founders of paediatric cardiology, Maude Abbott and Helen Taussig. Recently discovered entries in the diaries kept by Maude Abbott provide evidence for a close connection between them. Further evidence suggests that their association was complex, and influenced by outside factors, such as their difference in age and era-related notoriety. In this review, I attempt to define more clearly the relationship between these two early icons of paediatric cardiology.

Antibody-mediated rejection is a major clinical challenge that limits graft survival. Various modalities of treatment have been reported in small studies in paediatric heart recipients. A novel approach is to use complement-inhibiting agents, such as eculizumab, which inhibits cleavage of C5 to C5a thereby limiting the formation of membrane attack complex and terminal complement-mediated injury of tissue-bound antibodies. This medical modality of treatment has theoretical advantages but the collective experience in its use in the solid organ transplant community remains small. We add to this experience by combining 14 cases from 6 paediatric heart centres in this descriptive study.

Restrictive cardiomyopathy is a rare disease in children and adolescents. We have now encountered eight such cases in infants and children aged between nine months and 14 years. The reasons for admission to hospital were not very specific and included recurrent bronchitis, thoracic deformity, pathologic findings on routine electro-cardiography, or signs of cardiac failure. Despite two cases with atrial flutter, the characteristic electrocardiographic sign was a P-wave in lead II of about 0.6 to 1.5 m V. Echocardiographically, the leading feature was enlargement of the atriums, seen in cross-sectional and M-mode tracings. Diameters and functional parameters for the left ventricle, and the EF-slope of the mitral valve were normal. In four patients examined specifically for diis aspect, a typical E/A-ratio was found. Cardiac catheterization was performed in all patients. Left atrial or pulmonary capillary wedge pressures were all abnormal, and pulmonary arterial pressures ranged from 30 to 60 mm Hg. Calculated pulmonary resistances were 3 to 12 units per meter squared. End-diastolic left ventricular pressures were elevated, while comparable right-sided pressures were normal. Percutaneous endomyocardial biopsy was done in six patients and performed as an open biopsy in two. Only unspecified signs, such as myocytic hypertrophy or interstitial fibrosis, were found. At present, five of the children have died within two years of diagnosis. One boy has undergone cardiac transplantation success-fully. The two youngest children are still alive. As there is such a poor prognosis, and no alternative specific therapy is known, cardiac transplantation must be discussed with the family at an early stage, emphasizing its consequences.

Coarctation of the aorta is associated with increased risk for hypertension in adulthood, despite successful repair. The intrinsic mechanisms underscoring hypertension and left ventricular performance in these patients, however, remains to be determined. Our objective was to evaluate left ventricular performance by means of echocardiographic and biochemical parameters at midterm follow-up in normotensive children who have had undergone successful surgical or catheter interventional treatment of coarctation with a residual gradient of less than 20 mmHg at rest. We studied prospectively 14 patients with native aortic coarctation who underwent surgery or balloon angioplasty, the cohort made up of equal numbers of boys and girls, and having a mean age of 8.5 plus or minus 4 years. We also studied 30 age-matched healthy subjects, measuring mitral inflow pulsed wave signals, isovolumic relaxation and contraction times, myocardial performance index parameters, and levels of B-type natriuretic peptide and endothelin-1 in both groups. We found no differences in systolic blood pressure at rest between the patients and their controls. The ventricular septal diastolic dimensions, left ventricular posterior wall dimensions, mitral valve E wave, deceleration time, isovolumic relaxation time, isovolumic contraction time and myocardial performance index were all significantly increased in the patients. Levels of plasma B-type natriuretic peptide and endothelin-1 were also significantly higher in the patients when compared to the control group. We conclude that aortic coarctation is a chronic disease characterized by persistency of myocardial and vascular alterations. The elevated levels of plasma b-type natriuretic peptide and endothelin-1 may be indicative of late onset hypertension after successful treatment of native coarctation in early childhood.

Malonyl-CoA, a product of acetyl-CoA carboxylase is a metabolic intermediate in lipogenic tissues that include liver and adipose tissue, where it is involved in the de novo fatty acid synthesis and elongation. Malonyl-CoA decarboxylase (MLYCD, E.C.4.1.1.9), a 55-kDa enzyme catalyses the conversion of malonyl-CoA to acetyl-CoA and carbon dioxide, thus providing a route for disposal of malonyl-CoA from mitochondria and peroxisomes, whereas in the cytosol, the malonyl-CoA pool is regulated by the balance of MLYCD and acetyl-CoA carboxylase activities. So far, 34 cases with different MLYCD gene defects comprising point mutations, stop codons, and frameshift mutations have been reported in the literature. Here, we describe the follow-up of a patient affected by malonic aciduria upon neonatal onset. Molecular analysis showed novel homozygous mutations in the MLYCD gene. Our findings expand the number of reported cases and add a novel variant to the repertoire of MLYCD mutations.

Caffeinated beverages are the most consumed substances in the world. High rate of uptake of these beverages leads to various cardiovascular disorders ranging from palpitations to coronary failure. The objective of the study is to ascertain how the complexity parameters of heart rate variability are affected by acute consumption of caffeinated beverages in young adults.

Electrocardiogram measurements were performed before consuming drinks. After consuming the drinks, measurements were done again at 30 minutes and 60 minutes. Heart rate variability signals were acquired from electrocardiogram signals. Also, the signals were reconstructed in the phase space and largest Lyapunov exponent, correlation dimension, approximate entropy, and detrended fluctuation analysis values were calculated.

Heart rate increased for energy drink and cola groups but not in coffee group. Non-linear parameter values of energy drink, coffee, and cola group are increased within 60 minutes after drink consumption. This change is statistically significant just for energy drink group.

Energy drink consumption increases the complexity of the cardiovascular system in young adults significantly. Coffee and cola consumption have no significant effect on the non-linear parameters of heart rate variability.

Fontan palliation represents one of the most remarkable surgical advances in the management of individuals born with functionally univentricular physiology. The operation secures adult survival for all but a few with unfavourable anatomy and/or physiology. Inherent to the physiology is passive transpulmonary blood flow, which produces a vulnerability to adequate filling of the systemic ventricle at rest and during exertion. Similarly, the upstream effects of passive flow in the lungs are venous congestion and venous hypertension, especially marked during physical activity. The pulmonary vascular bed has emerged as a defining character on the stage of Fontan circulatory behaviour and clinical outcomes. Its pharmacologic regulation and anatomic rehabilitation therefore seem important strategic therapeutic targets. This review seeks to delineate the important aspects of pulmonary artery development and maturation in functionally univentricular physiology patients, pulmonary artery biology, pulmonary vascular reserve with exercise, and pulmonary artery morphologic and pharmacologic rehabilitation.

We have investigated the spatial distribution of the α and β isoforms of myosin heavy chain in the force-producing ventricular myocardium, the ventricular conduction system and the atrioventricular junctional region of five neonatal human hearts–three born prior to and two at term. The results can be summarized as follows: 1) the force-producing myocardium: in each heart, the β isoform was found to be the predominating isoform, β-negative cells never being observed. Considerable amounts of the α isoform were observed only in those hearts that were obtained from patients dying within the first two weeks of postnatal life. This transient expression is probably correlated with the postnatal increase in levels of circulating thyroid hormone. 2) the ventricular conduction system: in addition to the expression of the β isoform, a strong expression of the α isoform was detected in all the components of the ventricular conduction system in the two full-term hearts. In the preterm hearts, however, this strong expression was mainly restricted to the atrioventricular node and the penetrating atrioventricular bundle. The level of expression of the α isoform in the conduction system of the neonatal hearts, therefore, might reflect the state of maturity of this system at the time of birth. 3) the atrioventricular junctional region: in each heart examined, structures were detected that resembled immunohistochemically and morphologically the atrioventricular node. Although the expression of the isoforms of myosin heavy chain in the conduction system, and in these comparable structures, cannot, as yet, be interpreted with regard to function, these resemblances, coupled with the same developmental background for these structures (they all develop from the so-called “primary ring”) suggest functional affinities during this stage of cardiac development.

The morphology of the aortic valve was studied in 1,022 heart specimens belonging to the collection of the Institute of Pathological Anatomy, University of Padua. Twenty specimens were found to have a unicommissural aortic valve, characterized by the presence of a single leaflet with only one functional commissure; however, the presence of two raphes enabled the recognition of a basically three-sinus arrangement. Age and gender were known in 19 cases: 14 male and five female, mean age nine days. In 19 cases, the unicommissural valve was dysplastic and resulted in a severe congenital aortic valvar stenosis. Only in two hearts was the unicommissural nature of the aortic valve an isolated finding; among the remaining 18, left ventricular fibroelastosis in 11, malformation of the mitral valve in 11, hypoplasia of the left ventricle in eight, ventricular septal defect in four, mitral atresia in three, and subaortic fibrous diaphragm in one. Furthermore, seven (35%) of these 20 unicommissural aortic valves were associated with coarctation of the aorta. Statistical analysis shows that this association is not a random event. Our findings support the hypothesis that the unicommissural aortic valve originates from the early fusion of the three mesenchymal valvar cushions or leaflet primordia. Although the present data do not exclude the possibility that reduction of the blood flow through the aorta during fetal life may play a role in the formation of the unicommissural aortic valve, they rather point in the direction that another etiologic factor, such as an anomalous migration of neural crest cells, may be responsible for the fusion of the valvar cushions.

When Fontan and Baudet devised what has become known as the Fontan operation, they understandably assumed that inflow and outflow valves should be included to achieve a pump-like action of the subpulmonary right atrial cavity. Over the following years, however, it became apparent that valves did not function satisfactorily in this situation. Worse, the implanted valves had a tendency to become obstructive, which often lead to critical elevation of the already raised systemic venous pressure. Surgeons gradually realised that the outcomes of surgery designed to create the Fontan circulation were likely to be better without inclusion of valves in the subpulmonary right atrium, and they stopped putting them in.

We describe the progress of a girl aged 5 years, who suffered blunt trauma to the chest producing a ventricular septal defect of 1 centimetre in diameter. The shunt generated a mild dilation of the left-sided chambers, and exertional dyspnoea. Three months later, therapeutic catheterisation revealed important diminution in the extent of shunting. We decided, therefore, not to close the defect, and she has since remained asymptomatic.

Pediatric cardiac surgery in Indonesia first developed thanks to the cooperation of various cardiac centers abroad. The establishment of the ‘Harapan Kita’ National Cardiac Center in 1985 was one of the most important initial steps. Thereafter, the discipline advanced remarkably in terms of the number of the operations performed and the variety of the diseases treated and, as a result, the surgical outcome also improved. Numerous problems remain to be solved. Only 1% of the children with congenital heart disease are today properly treated in Indonesia. Some of the underlying problems responsible for this situation include a shortage of pediatric cardiac professionals, the lack of the information and education on the part of the patients, and a shortage of funding, both privately and publicly. It would thus be welcome for pediatric cardiac surgeons, cardiologists and nurses in Indonesia to learn about congenital heart disease from doctors and nurses in advanced countries in order to improve the outlook at home.

Temporary wires are routinely sutured to both the atrial and ventricular epimyocardium after open heart surgery. Despite their rarity, complications related to removal of such pacemaking wires may cause life threatening situations. We describe here a patient who developed ventricular fibrillation immediately after removal of temporary epicardial pacemaking wires.

The Holt–Oram syndrome was confirmed in an asymptomatic 36-year-old man by a novel TBX5-gene mutation (exon 8 acceptor splicing site, c.663-1G greater than A). Computed tomography showed an atrial septal defect and an anomalous right coronary artery crossing between the aorta and pulmonary arteries. Surgery corrected the septal defect and the initial segment of the anomalous vessel was unroofed and enlarged. Anomalous coronary arteries were not previously described in the Holt–Oram syndrome patients and should be added to the list of possible associated cardiac defects.