Search

Objective: To compare the prevalence at live birth and the spectrum of cardiovascular malformations in infants born to diabetic mothers with pre-existing diabetes with that in infants of non-diabetic mothers. Design: Prospective study of all live births in the resident population of one health region, with recording of details of the outcome of all pregnancies of women with pre-existing diabetes and of all live born babies with cardiovascular malformations. Results: In the six years 1995–2000 there were 192 618 live births in the study population. Cardiovascular malformations were confirmed in 22 of 609 (3.6%) babies with diabetic mothers and in 1417 of 192 009 (0.74%) babies with non-diabetic mothers. The odds ratio for a cardiovascular malformation with maternal diabetes was 5.0 (95% confidence interval 3.3 to 7.8). Combination of these results with previous reports and comparison with the spectrum of cardiovascular malformations in infants of non-diabetic mothers shows a greater than threefold excess of transposition of the great arteries, truncus arteriosus, and tricuspid atresia. Conclusions: Pre-existing maternal diabetes is associated with a fivefold increase in risk of cardiovascular malformations. Transposition of the great arteries, truncus arteriosus, and tricuspid atresia are overrepresented to produce a substantial excess of these malformations.

Background Congenital right ventricular outflow tract (RVOT) dysfunction can now be treated percutaneously. There is demonstrable evidence that percutaneous pulmonary valve implantation PPVI effectively restores conduit graft viability with a consequent improvement in right ventricular pressures and exercise tolerance. Aim This study evaluates early and late peri-procedural factors in patients with RVOT dysfunction, following PPVI using Medtronic Melody (MM) and Edwards SAPIEN (ES) valves. Methodology This was a single-centre retrospective study of a cohort of 41 consecutive men (n = 18) and women (n = 23), mean age 26.1 ± 10.2 (±SD) years who underwent PPVI between December 2007 and November 2014. Indications for PPVI were significant homograft dysfunction in the context of previously corrected pulmonary atresia (n = 10), pulmonary stenosis (PS) or regurgitation (Ross procedure, n = 9), Transposition of Great arteries (n = 4), Tetralogy of Fallot (n = 15), and truncus arteriosus (n = 3). Patients were categorised as having pulmonary stenosis (44%), regurgitation (34%) or mixed pulmonary valve disease (22%). Invasive haemodynamic, echocardiographic, electrocardiographic (ECG) and cardiopulmonary exercise test (CPET) parameters were assessed pre and post-procedure, at 1, 6 and 12 months (and at 2 or 3 years respectively in some patients). Differences between the measurements were tested by ANOVA or with χ2 test for proportions. Results PPVI significantly reduced the mean baseline RVOT gradients in stenosis (45 vs18.4 mmHg); regurgitation (19.2 vs. 7.6 mmHg) and mixed disease (32.5 vs. 12mmHg). Mean right ventricular (RV) systolic pressures fell (61.6 ± 2.3 vs. 41.9 ± 2mmHg, p Discussion Implantation of MM and ES valves in patients with pulmonary stenosis, regurgitation or mixed pulmonary diseases appear to be effective. Immediate improvement in right ventricular pressures and functional improvements demonstrated by echocardiography suggest PPVI is a worthwhile treatment option for patients with dysfunctional RVOT homografts. Multi-centre collaborations are essential to further determine long-term effects of PPVI on cardiac function, exercise tolerance and quality of life in RVOT dysfunction.

A newborn with an unusual form of truncus arteriosus is described, whose clinical presentation and certain features of her anatomy were more typical of pulmonary atresia with a ventricular septal defect. The morphological differentiation of certain types of truncus arteriosus and pulmonary atresia with ventricular septal defect remains an area of speculation among cardiac pathologists, and research in this area is being done using animal models. The anatomic features of the heart described in this report may assist in this discussion as the application of observations made in animal models to human cardiac development may be problematic. Keywords: congenital heart disease; truncus arteriosus; echocardiography

Interrupted aortic arch is a rare condition, usually lethal in early infancy without treatment. The only characteristic feature on conventional non-invasive investigation is peripheral pulse inequality, which indicates ductal construction, and therefore may be absent or transient and preterminal. We report the cross-sectional echocardiographic findings in seven patients with aortic arch interruption between the left carotid and subclavian arteries. Their ages were 1 day to 7 months (median 7.5 days). The arterial connection was concordant in four, double outlet right ventricle in two, and truncus arteriosus in one. In each case the ascending aorta was small in comparison to the pulmonary trunk. From the suprasternal approach the ascending aorta could be seen to terminate in the left carotid artery, and the ductus to continue smoothly into the descending aorta, with no vestige of an aortic arch linking its ascending and descending portions. The left subclavian artery was seen to arise distal to the ductus in all but one patient. All four patients with ventriculoarterial concordance had pronounced subaortic stenosis caused by posterior displacement of the infundibular septum. Cross-sectional echocardiography therefore provides the only accurate method of non-invasive diagnosis of this condition. It permits early treatment with prostaglandins to prevent ductal closure, a planned approach to cardiac catheterisation, and a further means of investigating the nature of subaortic stenosis in this condition.

Two-dimensional echocardiography was used to study a consecutive series of 13 infants with persistent truncus arteriosus. In all a single great artery with the long upward course characteristic of the aorta was shown. This great artery could be identified as a persistent truncus arteriosus by the recognition of a branch arising from its ascending part (10 out of 13) or of more than three semilunar valve cusps (5/13). These criteria allowed the correct diagnosis to be reached in 12 of the 13 infants.

Partial or complete absence of the thymus (DiGeorge syndrome, III-IV pharyngeal pouch syndrome) is often associated with agenesis or hypoplasia of the parathyroid glands and, almost invariably, with cardiovascular malformations. The clinical and pathologcial findings in 10 cases proven at necropsy are presented. All patients presented with cardiac symptoms and signs in the first weeks of life and, with one exception, all died of a cardiac cause. Major cardiovascular malformations were found in all 10 cases. Four had, in association with a ventricular septal defect of the infundibular type, an interrupted aortic arch, which was left-sided in two and right-sided in two other cases. Four patients had truncus arteriosus type I, in two of them associated with a right-sided aortic arch. Two patients with tetralogy of Fallot had a right-sided aortic arch. Only two of the 10 had a normally developed left aortic arch. Aberrant subclavian arteries were found in five cases. From our observations and a survey of the previously published patients it appears that 90 per cent of the necropsy-proven cases of DiGeorge syndrome have cardiovascular malformations and that 95 per cent of these malformations can be classified as aortic arch anomalies, truncus ateriosus, or tetralogy of Fallot.

Pulmonary vascular resistance normally falls or remains unchanged during exercise. Seven children with pulmonary hypertension were exercised during cardiac catheterisation after operative correction of ventricular septal defect (6) and truncus arteriosus (1). Except for the presence of moderate pulmonary hypertension, resting haemodynamics in these seven children were similar to those of normal children of equal age, but during exercise the postoperative patients showed a rise rather than a fall (+2% vs -18%) in total pulmonary vascular resistance. Two of the seven children had a substantial increase in pulmonary arteriolar resistance during exercise (from 509 to 715 dyne s cm-5 in one patient and from 606 to 828 dyne s cm-5 in the other). These two patients did not differ from normal children in respect of arterial or mixed venous oxygen saturations or of pH with exercise, nor was left atrial pressure related to the rise in pulmonary resistance. These two patients, however, had only a small rise in cardiac output during exercise (6.8% and 43.1%) in spite of a substantial increase in oxygen consumption (121% and 373%). One of the patients with exercise-induced pulmonary vasoconstriction had an 82% increase in resting pulmonary vascular resistance over a five year period subsequent to her first exercise study. Analysis of these data, and those previously reported, suggests that exercise induced pulmonary vasoconstriction may occur in 10 to 25% of patients who survive correction of certain congenital cardiac defects. The vasoconstriction cannot be attributed to abnormal changes in blood gases or left atrial pressure, and may be an early sign of progressive pulmonary hypertension.

A 13 day old baby was admitted to hospital with multiple abnormalities, increasing cyanosis, and cardiac failure. Cardiac catheterisation was performed on the day of admission and he died shortly after the procedure. A rare variant of common arterial trunk, in which the pulmonary arteries arose directly from the underside of the aortic arch, was found at necropsy.