Marfan's syndrome is an inherited disorder of connective tissue, caused by mutations in the fibrillin-1 gene located on chromosome 15. Diagnosis is still based on a combination of major and minor clinical features. Prognosis is mainly determined by the cardiovascular complications. Advances in surgical and medical treatment for these complications have dramatically improved the prognosis of the syndrome.

Objective: To evaluate immediate and midterm results with percutaneous aortic valvoplasty. Material and Methods: We reviewed the records of 141 patients undergoing percutaneous aortic valvopasty over a period of 13 years. Results: The patients were aged from 2 months to 40 years, with a mean of 10.9 ± 9.9 years. Of the total, 90 (63%) were male. The initial systolic peak-to-peak gradient decreased from 163 ± 52 mmHg to 32 ± 18 mmHg (p > 0.01) after valvoplasty in all 141 patients, while the proportional reduction ranged from 0 to 100%, with a mean of 72 ± 27%. The index of the size of the balloon to the diameter of the valvar orifice was 0.88 ± 0.19 in 128 patients. The follow-up ranged from 6 to 168 months, with a mean 51 ± 48 months in 70 patients. A significant difference was found in those failing after dilation when the initial evaluation was compared to the final evaluation of patients with follow-up. In those failing, the number of patients rose from 12 (17%) to 21 (30%) (p > 0.01). In contrast, in those in whom we achieved success, there was not such a great difference between the initial and final evaluation: 58 (83%) versus 49 (70%) (p > 0.1). The actuarial freedom curve of patients not needing new percutaneous aortic valvoplasty or surgery, by 182 months, was at 87% and 82% respectively. Conclusion: We have reviewed the largest series of patients in Latin-America reported thus far after undergoing percutaneous aortic valvoplasty, concentrating on mid term follow-up and limitations. New prospective and multicentric studies are needed from our region.

We aimed prospectively to determine the incidence of ventricular arrhythmias and ventricular late potentials in children with mitral valvar prolapse, and to assess whether signal-averaged electrocardiography could identify which such children were at high risk of developing ventricular tachycardia. In all, we examined 151 children with mitral valvar prolapse, at an age of 12.2 ± 3.1 years, and 164 healthy subjects aged 12.3 ± 3.7 years. All children underwent 24-hour ambulatory Holter monitoring and echocardiography. The children with mitral valvar prolapse were followed prospectively for a mean of 64 months. There was a significantly higher prevalence of ventricular arrhythmias in those with prolapse than in the controls (p < 0.0001). Runs of ventricular tachycardia were observed in 3 children with mitral valvar prolapse compared with one from the control group. Late potentials were more frequently observed in the children with mitral valvar prolapse than in those who were healthy (p < 0.0001), and also in those with prolapse suffering ventricular arrhythmias compared with those without ventricular arrhythmias (p < 0.02). During follow-up, 24 children with prolapsing mitral valves developed non-sustained ventricular tachycardia, giving a frequency of 3.1/100 subject-years. The sensitivity of late potentials was low, at 52%, for the identification of children with mitral valvar prolapse who developed ventricular tachycardia, although the specificity was high at 90%. This gave a positive predictive value of 50%, and a negative predictive value of 91%. We conclude that prolapse of the mitral valve predisposes to the development of ventricular arrhythmias and late potentials in children. An abnormal signal-averaged electrocardiogram is a specific, but not very sensitive, predictor for the development of ventricular tachycardia in such children.

Knowledge of normal aortic dimensions is important in the management of children with aortic disease. So as to define such dimensions, we undertook a retrospective review of clinical data and aortic cineangiograms from 167 subjects without aortic disease having a mean age of 3.67 years, with a range from 0.01 to 14.95 years. Amongst the patients, 56 were without detectable cardiac lesions, 66 patients had mild pulmonary stenosis, 30 were seen with Kawasaki disease, and 15 with small interatrial defects within the oval fossa. Aorto-grams were available in all. No patient had any hemodynamic derangement that would have affected the aorta during intrauterine life or childhood. Systolic dimensions were measured in the ascending and descending aorta at the level of the carina, at the transverse aortic arch distal to the brachiocephalic, of the left common carotid artery at its origin, at the transverse aortic arch distal to the left common carotid artery, at the aortic isthmus, and of the aorta at the level of the diaphragm. A regression analysis model was used to establish the range of predicted normal values, with their confidence limits, standardizing the values to height as the biophysical parameter having the highest correlation to aortic dimensions. Normal ranges were established for all the levels of measurement. The data should prove useful in identifying abnormalities of the thoracic aorta during childhood, and when assessing the outcomes of interventions.

Pulmonary regurgitation and older age at the time of repair may have a large impact late after repair on subsequent mortality of patients with tetralogy of Fallot. We aimed to identify whether age at repair, and preservation of the pulmonary valve, had a favorable influence on morbidity and mortality. We also analyzed risk factors for late death subsequent to surgical repair. We identified 167 patients who, between 1965 and 1975, and at a mean age of 6 years, underwent total repair of tetralogy of Fallot by a single surgical team without use of an outflow patch. All patients were known to have survived for at least 30 days after repair, and late mortality was identified though the use of hospital records, interviews, and death certificates. The 29-year actuarial survival rate was 86%, with 24 late deaths. Of these deaths, seven occurred suddenly (4.2%). Morbidity was analyzed in 99 of the patients by means of a written questionnaire and telephone interview. It proved possible to analyze ventricular and valvar function in 50 of the patients. Survivors experienced no re-intervention, and 89% of them were in class I of the grading system of the New York Heart Association. We found evidence of 3 episodes of sustained ventricular tachycardia (3.0%), and two episodes of atrial tachycardia (2.0%). Of the 50 patients in whom serial examinations were available, 18 had pulmonary regurgitation of moderate degree or greater, and none had more than moderate tricuspid regurgitation, with a mean QRS duration of 148ms and an ejection fraction for the left ventricle of 50%. Older age at repair (p = 0.03), and longer periods of cardiac arrest during repair (p = 0.02), were associated with late mortality. Although the mortality was similar to that observed in previous reports, our operative method might have a better effect in terms of late morbidity.

We report our experience from 1996 through 1999, representing our initial experience with use of the Amplatzer device to close atrial septal defects. Of 46 patients taken to the catheter laboratory with the intention to close the defect, the device was permanently implanted in 40 (87%). They were aged between 1.4 and 71.8 years, with weights ranging from 7.8 to 90 kg. Both age and weight distributed into two peaks, demonstrating two different populations. The size of the devices, taking the biggest device if two were inserted, was between 9 and 30 mm. We underwent a short learning curve, but the time required for fluoroscopy, or the number of difficulties experienced, showed no connection with the size or age of the patient, nor the size of the defect itself. A suspicion that young age and small size would increase the risk and difficulties, and result in more interrupted procedures, could not be substantiated. In children no interruption was procedural. Our early experience, therefore, demonstrates that an experienced interventional team can use the Amplatzer occluder successfully to close atrial septal defects in patients of all ages and sizes, at least from 7.8 kg and up.

Introduction: Aspects of the management of ventricular septal defects which remain uncertain include the role of screening, and the need for closure of defects that remain patent. Aim: To ascertain the natural history of clinically significant ventricular septal defects, and to examine uncertainties in strategies of management. Methods: We studied prospectively a regional cohort of children born with isolated ventricular septal defects, noting age at presentation; sex; morphology and size of the defect; age at closure, if it occurred, and the means of closure. Results: We identified 290 children with isolated ventricular septal defects, of whom 147 (51%) were male. The mean follow up period was 65 months, with five cases being lost to follow up. Surgical closure was required in 41 (14%) cases, and 155 (54%) defects closed spontaneously. Spontaneous closure occurred in 123 (68%) out of 180 cases with completely muscular borders, and in 31 (29%) of the 107 patients with perimembranous defects. There were two cases with associated aortic regurgitation and no cases of endocarditis. Size and morphology of the defect were significant predictors of spontaneous and surgical closure. In addition, young age at diagnosis was a significant predictor of spontaneous closure. Conclusions: The size and morphology of a ventricular septal defect are important determinants of spontaneous closure and to the need for surgical intervention. Early age at presentation, in contrast, is not predictive of the need for surgical intervention. In early childhood, there appears to be very little risk of endocarditis or aortic valvar prolapse. Neither screening of populations to identify ventricular septal defects, nor surgical closure of asymptomatic defects in childhood, are supported by our findings.

Objectives: We describe the structure of, and suggest an etiology for, the interatrial communication which can occur through the mouth of the coronary sinus. Based on the study of human embryos, we propose that the defect is best explained by dissolution of the wall of the coronary sinus adjacent to the left atrium, permitting shunting between the atriums through the right atrial orifice of the sinus. Background: An interatrial communication across the mouth of the coronary sinus defect was first described in 1965 by Raghib and colleagues, its existence being predicated on the basis of incomplete formation of the left “atriovenous fold”. Their hypothesis implies that the coronary sinus never develops, and thus the atrial septum itself is incomplete. Methods: We have studied the development of the coronary sinus in a series of human embryos. Based on this work, we present the anatomical findings in 6 specimens with varying degrees of dissolution of the walls of the coronary sinus, and ten specimens with isomerism of the right atrial appendages, in which the sinus has never been formed. Results: The coronary sinus defect is not a hole within the atrial septum, but a communication between the atriums through the mouth of the sinus. There was a range of defects in our series of specimens with usual atrial arrangement, extending from complete absence of the walls which normally separate the coronary sinus from the left atrium, to small fenestrations between this vessel and the left atrial cavity. In the hearts with isomerism of the right atrial appendages, however, we never observed an orifice of the coronary sinus. Thus, a coronary sinus defect cannot exist in this setting. Conclusions: Our findings indicate that the defect requires initial formation of the walls of the coronary sinus, but with subsequent dissolution of the wall adjacent to the left atrium. This produces a communication between the atriums through the mouth of the sinus.

Tetralogy of Fallot with pulmonary atresia is one of the most challenging congenital cardiac malformations, for the morphologist, cardiologist and surgeon alike. Much of the difficulty in this lesion concerns the nature and development of pulmonary arterial supply, and the manner in which complete segmental supply to the lungs can be successfully restored or maintained. In this review, we discuss the anatomy and nomenclature of the lesion, emphasising the variability that can occur in pulmonary arterial anatomy, particularly in the presence of systemic-to-pulmonary collateral arteries. We speculate on the likely embryologic origins of these connections. Then by means of anatomic-clinical correlations, we emphasise the diagnostic approach to delineating the origin and extent of the pulmonary vasculature.

Twisted atrioventricular connections usually occur in hearts with biventricular artioventricular connections. Here, we describe a case of twisted atrioventricular valves associated with double inlet left ventricle and discordant ventriculo-arterial connections. Color Doppler echocardiography, and cine magnetic resonance imaging, clearly demonstrated that the right atrioventricular valve was located anterior and superior to the left atrioventricular valve, and that the axes of the two atrioventricular valves crossed each other within the dominant left ventricle.

A new technique is presented to create percutaneously an unrestrictive and lasting atrial communication in small children. In 2 infants, a stent was deployed in a restrictive atrial communication and first inflated with an 8 mm balloon. The stent was then further expanded up to 10 or 12 mm. The gradient and turbulent flow between the two atriums disappeared completely. The stent retained a very stable position without embolisation. Other complications, such as formation of thrombus or arrhythmia, were not observed until elective explantation after 2 and 11 months. We conclude that, in infants, dilation of the atrial septum with a stent can provide a safe, lasting, and unrestrictive atrial communication.

A postal questionnaire survey of the 17 centres for paediatric cardiology in the UK investigated the attitudes of staff towards rehabilitation and the current level of provision. The majority of respondents (82%) believed they should provide rehabilitation for their patients, but only one centre had a programme for rehabilitation. Few respondents (18%) believed they were meeting the needs of their patients' for rehabilitation. Major barriers to providing rehabilitation were funding and the wide geographical catchment areas.

We describe two neonates presenting with myocardial infarction, due to two different aetiologies of this extremely rare but potentially treatable condition, and discuss the management. One neonate had myocardial infarction complicating enteroviral myocarditis and recovered completely. The second had fatal myocardial infarction due to thrombosis of the left coronary artery. Although rare, the attending paediatrician should have a high index of suspicion when evaluating a neonate with acute onset of collapse. Electrocardiographic changes are diagnostic, but further echocardiographic assessment and prompt management at a tertiary cardiac centre are advised.