Mucopolysaccharidosis is an inborn error of metabolism causing glucosaminoglycans tissue storage. Cardiovascular involvement is variable but contributes significantly towards the morbidity and mortality of the patients.

To characterise the echocardiographic abnormalities in children and adolescents with different types of mucopolysaccharidosis.

Echocardiograms and medical records of 28 patients aged 2–14 years, seen from 2003 to 2005, were revised. At that time, the enzymatic replacement therapy was still not available in our institution.

Echocardiographic alterations were detected in 26 patients (93%), whereas 16 (57%) had abnormal auscultation, and only 6 (21%) presented with cardiovascular complaint. Mitral valve thickening with dysfunction (regurgitation, stenosis, or double lesion) was diagnosed in 60.8%, left ventricular hypertrophy in 43% and aortic valve thickening with regurgitation in 35.8% of the patients. There was no systolic dysfunction and mild left diastolic dysfunction was shown in 21.5% of the patients. Pulmonary hypertension was present in 36% of the patients, causing the only two deaths recorded. There was a strong association between the accumulation of dermatan sulphate and the presence of mitral valve dysfunction (p = 0.0003), aortic valve dysfunction (p = 0.006), and pulmonary hypertension (p = 0.006). Among individuals with two or more examinations, 82% had a worsening evolution.

Echocardiographic alterations in children with Mucopolysaccharidosis are frequent and have a progressive character. Left valve lesions, ventricular hypertrophy, and pulmonary hypertension were the most common findings and there was an association between the accumulation of dermatan sulphate and cardiovascular involvement. Unlike in adults, pulmonary hypertension was the main cause of death, not left ventricle systolic dysfunction.

To investigate the utility of computed tomographic angiography as an adjunctive imaging modality before congenital cardiac surgery.

We evaluated 33 patients who underwent a pre-operative computed tomographic angiogram. They were classified according to the anatomic site of repair. Post-operatively, the surgeon completed a questionnaire assessing the utility of the study.

Computed tomographic angiography was found to be either “essential” or “very useful” for pre-operative planning in 94% of the patients. Specifically, the scan was consistently useful for procedures involving the aorta (14/15, 93%) or the pulmonary veins (4/4, 100%) and obviated pre-operative catheterisations in 14 patients (42%). Furthermore, when compared with other diagnostic groups, computed tomographic angiography determined the need for peripheral cannulation in patients undergoing re-operations (6/7; 86%, p = 0.02).

Computed tomographic angiography was found to be useful in the pre-operative planning of virtually all patients undergoing repair of congenital cardiac malformations, regardless of diagnosis. Specifically, the studies were essential in select populations, such aortic arch or pulmonary vein repairs, and helped to determine cannulation sites for repeat operations while significantly reducing the need for invasive imaging.

Specimens of the normal and congenitally abnormal heart have been long preserved, collected, and studied. It is increasingly difficult to add to such pathological collections. These museum pieces are often inaccessible for teaching purposes. Magnetic resonance imaging of old pathological specimens could produce high-resolution unalterable datasets that could be processed to create three-dimensional reconstructions using inexpensive systems that could be used by untrained individuals. To our knowledge, the concept of “Virtual Autopsy” has not been applied to cardiac specimens of museum collections.

To determine optimal sequences and assure specimen safety, five different pulse sequences designed to create three-dimensional datasets were tried on a uterus specimen suspended in a fluid-filled glass container, using a 1.5 Tesla scanner with an eight-channel phased-array coil. Having found the best sequences and established specimen integrity, we scanned six historical heart specimens in their original fluid-filled glass containers. The datasets were processed on a laptop with a DICOM viewer available as freeware.

All specimens were successfully scanned. The best image quality was obtained by using a three-dimensional FSPGR and the BRAVO pulse sequences. High-resolution three-dimensional and multi-planar image processing was possible for all datasets. Detailed examination of the specimens could be easily performed.

Pathological specimens can successfully be scanned in minutes resulting in unalterable and portable high-resolution three-dimensional datasets that can be processed by using inexpensive readily available software. The final cardiac reconstructions can be widely shared for educational and scientific purposes and ensure a lasting access to pathological specimens.

A discrete subaortic membrane cannot only cause left ventricular outflow tract obstruction, but can grow onto the aortic valve leaflets. The late finding of this encroachment is aortic valve insufficiency or stenosis. Echocardiography is used to follow the progression of outflow tract obstruction, but its ability to show subaortic membrane encroachment onto the aortic valve is unclear. The purpose of this study is to determine the sensitivity and specificity of echocardiography for diagnosing whether a discrete subaortic membrane involves the aortic valve.

A pre-operative determination of aortic valve involvement by a discrete subaortic membrane was obtained by review of the official pre-operative echocardiogram reading and a retrospective blinded review of the pre-operative echocardiogram by an independent echocardiographer. These findings were compared to the intra-operative findings.

A total of 48 consecutive patients underwent primary resection for isolated discrete subaortic membrane between October, 1995 and May, 2006. The pre-operative and blinded readings both predicted a statistically lower rate of aortic valve involvement – 35% in 11 of 31 patients and 31% in 10 of 31 patients, respectively – than found at surgery – 65% in 31 of 48 patients. The sensitivity and specificity of pre-operative echocardiography to diagnose aortic valve involvement is 35% and 76%. Overall survival was 100%. There were no strokes, re-operations for bleeding or wound infections, or need for a pacemaker.

Echocardiography is not sensitive in assessing whether a discrete subaortic membrane involves the aortic valve. Since the morbidity and mortality for discrete subaortic membrane resection is negligible, resection may be indicated at the time of diagnosis to minimise aortic valve impairment.

To examine early outcomes for pulmonary atresia with intact ventricular septum undergoing single-ventricle palliation and to determine risk factors for mortality.

Retrospective observational study.

Tertiary paediatric critical care unit.

Risk factors for mortality were sought for infants after the primary intervention whether surgical shunt or ductal stent.

We reviewed outcomes of 19 infants with pulmonary atresia with intact ventricular septum undergoing single-ventricle palliation between July, 2000 and July, 2008. Echocardiograms, cardiac catheterisation findings, anaesthesia, and critical care management, as well as autopsy reports were reviewed. We modelled survival after surgery and looked for predictors of early mortality. A total of 19 infants underwent single-ventricle palliation and seven of these died. The risk of death was increased by a lower arterial pH at induction of anaesthesia (p = 0.01), a lower systolic blood pressure (p = 0.01), and technical problems during surgery (p = 0.03). On admission to the critical care unit, a lower mixed venous saturation (p = 0.02) and presence of tachyarrhythmia (p = 0.02) were associated with the need for mechanical support within the first 48 hours.

There is a high early mortality for those who undergo single-ventricle palliation. It is higher for those who are haemodynamically compromised before surgery; technical problems, and haemodynamic instability during surgery also increase mortality.

Acute rheumatic carditis is still an important cause of cardiac failure in developing countries. B-type natriuretic peptides, especially N-terminal segment of its prohormone are now recognised as essential parts of cardiologic evaluation. Increased plasma concentrations of B-type natriuretic peptide and its prohormone are markers of cardiac failure and hypoxia in adults.

To measure the prohormone levels in children with acute rheumatic carditis and to determine whether its concentrations correlate with clinical and laboratory findings.

A total of 24 children with acute rheumatic carditis and 23 age and sex-matched healthy subjects were entered in the study. Transthoracic echocardiography was performed in all patients to assess the severity of the valve insufficiency and cardiac dysfunction. The prohormone plasma levels were tested for correlation with cardiac dysfunction and other biochemical markers, such as C-reactive protein, erythrocyte sedimentation rate, and anti-streptolysin-O titter.

The prohormone plasma concentrations were significantly higher in children with acute rheumatic carditis than in control subjects at the time of diagnosis. A significant decrease of the plasma level was detected among patients after treatments (6–8 weeks).

We found increased plasma prohormone levels in children with acute rheumatic carditis in the acute stage of illness compared with healthy subjects. Another result is increased plasma prohormone levels as acute rheumatic carditis are reversible.

Neonates and infants with congenital and acquired cardiac disease often require placement of central venous lines for extended intravenous therapy. It may be advantageous to avoid the larger venous vessels of the head and neck and lower extremities in order to preserve these for future interventions and therapies. We evaluated the results of a nursing led peripherally inserted central catheter team in our congenital cardiac centre.

Bedside peripherally inserted central catheter the insertion procedures were evaluated for success, complications, and completion of therapy.

A total of 125 peripherally inserted central catheters were successfully placed in 105 patients. The mean age at the time of placement was 13.5 plus or minus 19.1 days; median age was 7 days; mean weight was 3.5 plus or minus 1.1 kilogram. Cyanotic cardiac disease accounted for 76% of the diagnoses. Central placement of these lines was successful in 78% of patients. Complications during insertions were limited to inadvertent arterial access in five (3%) infants and oxygen desaturations during sedation for the procedure in two (1%) patients. None of the infants suffered long-term compromise from arterial access; none required intubation for the desaturations. The team was able to respond to 90% of their requests within 24 hours. Median catheter dwell time was 14 days.

In a population of infants with cardiac disease, a nursing staffed peripherally inserted central catheter team achieved an insertion rate of 78% with few complications and a rapid response time. Reliance on bedside insertion permits continuous critical care monitoring and may eliminate the need for fluoroscopy.

Although electrical pacing is of great utility in many cardiovascular diseases, its effects on the combined cardiac cell therapy have not been established. We hypothesised that mesenchymal stem cell transplantation changes cardiac sympathetic nerve and gap junction, and concomitant pacing has additional biological effects.

We monitored cardiac rhythm for 4 weeks after human mesenchymal stem cell transplantation (1 × 107, epicardial injection) in 18 dogs in vivo, seven human mesenchymal stem cell with pacing, six human mesenchymal stem cell, and five sham, and evaluated the sympathetic innervation, nerve growth factor-β; tyrosine hydroxylase, angiogenesis, von Willebrand factor, and connexin43 expressions by real time (RT)–polymerase chain reaction and immunostaining. We also measured mRNA expressions of nerve growth factor-β, von Willebrand factor, and connexin43 in vitro culture of human mesenchymal stem cell with or without pacing.

Human mesenchymal stem cell transplanted hearts expressed higher mRNA of nerve growth factor-β (p < 0.01) with sympathetic nerves (p < 0.05), higher mRNA of von Willebrand factor (p < 0.001) with angiogenesis (p < 0.001), but lower mRNA of connexin43 (p < 0.0001) with reduced gap junctions (p < 0.001) than sham. Pacing with human mesenchymal stem cell transplantation resulted in higher expression of mRNA of connexin43 (p < 0.02) and gap junctions (p < 0.001) compared with sham. In contrast, in vitro paced mesenchymal stem cell reduced expression of connexin43 mRNA (p < 0.02).

Human mesenchymal stem cell transplantation increased cardiac sympathetic innervation and angiogenesis, but reduced gap junction after transplanted in the canine heart. In contrast, concomitant electrical pacing increased gap junction expression by paracrine action.

To investigate whether genetic variants in methylenetetrahydrofolate reductase (MTHFR) and methylenetetrahydrofolate dehydrogenase (MTHFD) genes are associated with risk of congenital cardiac disease.

Accumulative evidence suggests that hyperhomocysteinaemia is associated with risk of congenital cardiac disease. Inherited polymorphisms in key folate metabolic pathway genes, MTHFR and MTHFD, may influence the efficiency of folate metabolism and plasma level of homocysteine.

A two-stage case–control study of congenital cardiac disease was conducted by genotyping MTHFR c.1793G>A and four other variants – MTHFR c.677C>T, c.1298A>C, and MTHFD c.1958G>A, c.401C>T – in a Chinese population consisting of 1033 congenital cardiac disease patients and 1067 non-congenital cardiac disease patients.

The variant genotypes of MTHFR c.1793GA/AA were associated with a significantly decreased risk of congenital cardiac disease in two stages combined, with an adjusted odds ratio of 0.67 and a 95% confidence interval of 0.54–0.84 (p = 0.0004). In comparison with wild-type homozygote c.1793GG, the effect was significant in isolated perimembranous ventricular septal defect patients with an adjusted odds ratio of 0.60 and a 95% confidence interval of 0.43–0.83 (p = 0.0003).

These findings indicate that MTHFR c.1793G>A may have a role in susceptibility to sporadic congenital cardiac disease.

To describe the cardiac lesions seen in children with trisomy 21, the outcome of these children and rates of access to corrective surgery at the Bustamante Hospital for Children.

A 10-year retrospective review of the records of trisomy 21 patients with cardiac lesions referred to the Bustamante Hospital for Children was conducted.

A total of 76 patients were enrolled in the study, 30 (40%) males and 46 (60%) females; among these 110 cardiac lesions were detected. A total of 20 (26%) patients died, 48 (63%) survived, and for 8 (11%) the status was unknown. The most common lesion was the atrioventricular septal defect, which accounted for 41 (37%) of all the lesions and occurred as a single defect in 24 (53%) patients. At presentation, 33 (46%) patients had one or more medical complication; 30 (91%) had cardiac failure, 10 (30%) had pneumonia and 5 (15%) had evidence of systemic pulmonary arterial pressures. Cardiac catheterisation was recommended for 43 (56%) patients but only 10 (23%) had the procedure done. Surgery was recommended for 60 (79%) patients; of these 6 (10%) patients had the procedure done. The median time of survival was 88 months (7.3 years). The age of presentation was not found to significantly affect outcome.

Trisomy 21 patients with cardiac lesions have high morbidity and mortality. This morbidity and mortality could be reduced if surgical intervention was offered routinely.

Patients with complex congenital cardiac disease are increasingly surviving to adulthood and many are keen to consider pregnancy. Haemodynamic status should be optimal prior to embarking on pregnancy and for some this may mean surgical intervention to alleviate haemodynamic residua.

We report the successful implantation of a percutaneous pulmonary stent valve into a right atrial to right ventricular conduit in a young woman with a Bjork modification of the Fontan palliation to improve haemodynamics prior pregnancy.

Catheter interventions offer a low-risk option for the treatment of haemodynamic residua and innovative use of new technologies such as the pulmonary stent valve presents a novel, safe, and effective treatment for such conduit problems.