Congenital mitral stenosis is a rare anomaly. We report successful surgical management of congenital mitral stenosis in a patient with Kabuki syndrome. A 15-month-old male with Kabuki syndrome was referred and echocardiography showed isolated congenital mitral stenosis. The valve was not repairable as it was showing severe stenotic features in multilevel fashion. Valve was replaced with mechanical valve. Postoperative course was uneventful without any rhythm problem and he has been doing well clinically during the 25 months follow-up with regular international normalized ratio checks.

Accessory mitral valve tissue is a rare congenital cardiac anomaly that is typically discovered incidentally during echocardiographic evaluation prompted by an asymptomatic murmur. This pathology has characteristic echocardiographic elements and is usually associated with other CHD. The decision to perform surgical resection depends on factors such as the degree of obstruction, presence of symptoms, presence of other CHDs, and risk of thrombosis. The researchers hereby present a case of an asymptomatic paediatric patient with accessory mitral valve tissue that produced left ventricular outflow tract obstruction.

We report the first successful implantation in the United States of a novel mitral valve (MITRIS RESILIA by Edwards Lifesciences) in a patient with history of mitral valve replacement at a young age. This new bioprosthetic valve offers a unique profile and innovative option for mitral valve replacement in patients who are at risk of left ventricular outflow tract obstruction.

Noonan syndrome is the second most common genetic syndrome associated with congenital heart disease after Trisomy 21. The two most common cardiac lesions associated with Noonan syndrome are pulmonary stenosis and hypertrophic cardiomyopathy. Although the incidence of mitral valve disease in Noonan syndrome ranges between 2 and 6%, rapid progression of mitral valve dysplasia causing severe mitral valve regurgitation and left atrial dilatation is seldom seen. Most cases of mitral valve disease have been diagnosed either on routine echocardiographic surveillance or when presented with heart failure symptoms. We describe an 18-month-old boy with Noonan syndrome presenting in atrial flutter due to a massively enlarged left atrium caused by severe mitral valve regurgitation which developed and progressed in less than 17 months.

There has been great concern with the use of radiofrequency ablation in infants since radiofrequency ablation lesions were shown to have a progressing nature in immature myocardium of animals. In this report, we present a 2-month-old infant with life-threatening medically refractory supraventricular tachycardia. Radiofrequency ablation successfully cured arrhythmia; however, late effects of radiofrequency ablation lesions resulted in a progressive mitral valve perforation requiring surgical repair.

This December Issue of Cardiology in the Young represents the 12th annual publication generated from the two meetings that compose “HeartWeek in Florida”. “HeartWeek in Florida”, the joint collaborative project sponsored by the Cardiac Center at the Children’s Hospital of Philadelphia, Pennsylvania, together with Johns Hopkins All Children’s Heart Institute of Saint Petersburg, Florida, averages over 1000 attendees every year and is now recognised as one of the major planks of continuing medical and nursing education for those working in the fields of diagnosis and treatment of cardiac disease in the foetus, neonate, infant, child, and adult. “HeartWeek in Florida” combines the International Symposium on Congenital Heart Disease, organised by All Children’s Hospital and Johns Hopkins Medicine and entering its 15th year, with the Annual Postgraduate Course in Pediatric Cardiovascular Disease, organised by The Children’s Hospital of Philadelphia and entering its 18th year. This December, 2014 Issue of Cardiology in the Young features highlights of Johns Hopkins All Children’s Heart Institute’s 14th Annual International Symposium on Congenital Heart Disease, which was held at the Renaissance Vinoy Resort & Golf Club, Saint Petersburg, Florida, from 15–18 February, 2014. This Symposium was co-sponsored by The American Association for Thoracic Surgery (AATS) and had as its special focus “Diseases of the Cardiac Valves from the Fetus to the Adult”. We acknowledge the tremendous contributions made to paediatric and congenital cardiac care by Duke Cameron and Joel Brenner, and therefore we dedicate this December, 2014 HeartWeek Issue of Cardiology in the Young to them. Duke Cameron is Professor of Surgery at Johns Hopkins University and Cardiac Surgeon-in-Charge at The Johns Hopkins Hospital. Joel Brenner is Professor of Pediatrics at Johns Hopkins University and Director of the Taussig Heart Center at Bloomberg Children’s Center, The Johns Hopkins Hospital. Together, Joel and Duke lead the proud paediatric and congenital cardiac programme at The Johns Hopkins Hospital.

Advances made in the understanding of the molecular biology of the cardiac valves have been truly spectacular. Not all of those investigating these aspects, however, have an appropriate understanding of the underlying anatomy. Partly, this reflects problems in describing the components of the various valves, a difficulty also emphasised by surgeons who repair or replace the valves. In this review, we describe briefly the overall anatomy of the cardiac valves, pointing to their similarities and differences. We then suggest that uniform terms can be developed to account for the components of the valves, treating them as complexes that guard the atrioventricular and ventriculo-arterial junctions. The atrioventricular valvar complex is made up of an annulus, leaflets, tendinous cords, and papillary muscles. The tension apparatus is required to hold the leaflets together against the force of ventricular systole. The ventriculo-arterial complex is also based on the leaflets, but supported within the valvar sinuses, and limited distally by the sinutubular junction. It is the semilunar nature of the leaflets that underscores their snug closure during ventricular diastole. The complexes thus defined can be separated to produce paired valves in the normal arrangement, or to produce common valves in the congenitally malformed hearts. Knowledge of development now permits accurate inferences to be made regarding the origin of the various components, and their relevance to valvar disease. The valvar leaflets are developed from the endocardial cushions formed in the atrioventricular canal and the outflow tract by a process of endothelial-to-mesenchymal transformation. The papillary muscles of the atrioventricular valves are then derived from the trabecular layer of the developing ventricular walls, whereas the sinuses of the ventriculo-arterial valves are formed by additional growth of the non-myocardial tissues, concomitant with excavation of the outflow cushions to form the leaflets.

Between January, 2009 and December, 2013, 84 patients were identified who underwent isolated mitral valve surgery in Jamaica at The University Hospital of the West Indies and The Bustamante Hospital for Children. The most common pathology requiring surgery was rheumatic heart disease, accounting for 84% of the procedures performed. The majority of patients had regurgitation of the mitral valve (67%), stenosis of the mitral valve (22%), and mixed mitral valve disease (11%). The most common procedure performed was replacement of the mitral valve (69%), followed by mitral valve repair (29%). Among the patients, one underwent closed mitral commissurotomy. The choice of procedure differed between age groups. In the paediatric population (<18 years of age), the majority of patients underwent repair of the mitral valve (89%). In the adult population (18 years and above), the majority of patients underwent mitral valve replacement (93%). Overall, of all the patients undergoing replacement of the mitral valve, 89% received a mechanical valve prosthesis, whereas 11% received a bioprosthetic valve prosthesis. Of the group of patients who underwent mitral valve repair for rheumatic heart disease, 19% required re-operation. The average time between initial surgery and re-operation was 1.2 years. Rheumatic fever and rheumatic heart disease remain significant public health challenges in Jamaica and other developing countries. Focus must remain on primary and secondary prevention strategies in order to limit the burden of rheumatic valvulopathies. Attention should also be directed towards improving access to surgical treatment for young adults.

Lipomatous hamartoma of cardiac valves is a very rare entity, with only three reported cases in children. We describe the case of a 9-year-old girl with a mass in the mitral valve, which was detected in an echocardiogram performed for heart murmur investigation. At surgery, a white round-shaped tumour was removed and histopathological examination revealed a lipomatous hamartoma.

Double orifice left atrioventricular valve is an uncommon condition. This paper describes 10 consecutive patients with the anomaly encountered over 20 months. Diagnosis was assisted by cross-sectional echocardiography and supplementary color Doppler, often requiring non-standard views and a high index of suspicion. There were three anatomical variants—those in which the orifices were equal in size (three of 10 patients), those in which they were unequal and associated with an atrioventricular septal defect (four of 10 patients), and those in which they were unequal in the absence of an atrioventricular septal defect (three of 10 patients). The unequal orifice in both anatomical situations was frequently complicated by valvar regurgitation (six of seven patients). Conservative repair was possible in three of the four patients requiring surgery to the left atrioventricular valve. This condition should be thought of more often in the differential diagnosis of left atrioventricular regurgitation in childhood.

Anatomic study of 54 autopsied cases of tricuspid atresia revealed mitral valvar anomalies in 9 (16.7%). The morphologic findings in these 9 cases are presented and compared with 45 cases having a normal mitral valvar apparatus. The anomalies included a cleft valve in 2, parachute valve in 2, straddling valve in 3, and a valve with dual orifice in 2.Two of these cases had more than one anomaly. Data from echocardiography and cardiac catheterisation, when available, had failed to diagnose the anomalies during life. The anomalies were more commonly associated with discordant ventriculo-arterial connections (33.3% versus 13.3%, p < 0.01), were associated significantly with a large ventricular septal defect (33.3% versus 4.4%, p < 0.01), and with pulmonary hypertension (33.3% versus 2.2%, p < 0.01). Two of 3 post operative deaths among the 9 were due to hemodynamic consequences arising from the uncorrected mitral valvar anomaly (parachute valve in both ). Diagnosis of these anomalies prior to surgical correction is imperative, as their presence may necessitate repair or replacement of the mitral valve. Failure to do so may result in increased perioperative mortality, congestive cardiac failure and arrhythmias at a later date. Mitral valvar anomalies may be a contributory factor to the early onset of cardiac failure seen in patients with tricuspid atresia undergoing palliative shunts.

The role of transesophageal echocardiography in the diagnosis and management of left-sided cardiac valvar disease in children and young adults was assessed in terms of whether additional information (over transthoracic echocardiography) could be obtained, and whether the added information contributed to the better management of the patients. Between January 1991 to August 1992, 27 consecutive patients were studied. Their age ranged from 2.5 to20 years (mean 12.7), with body weights ranging between 12 and 60 kg (mean 35.6). Twelve of the children suffered from atrioventricular valvar disease, 13 had predominant aortic valvar lesions and two had mixed valvar pathologies. Additional information was obtained by transesophageal over that of transthoracic echocardiography in 18 children (67%). Transesophageal echocardiography clarified the etiologies or mechanism of valvar regurgitation in eight and seven children with atrioventricular and aortic pathologies, respectively. The technique correctly diagnosed severe mitral regurgitation underestimated by conventional technique, detected a missed eccentric aortic regurgitant jet and convincingly excluded bacterial vegetations in one case each. The investigation contributed to the better management of three children (11%) by providing information that allowed the appropriate choice of therapy. Transesophageal echocardiography, therefore, is a useful technique for the diagnosis and management of valvar disease of the left heart in children and young adults.

We describe three children with chronic renal failure who developed mitral obstructive disease over a period when maintained on hemodialysis. The development and progression of the mitral disease was documented by cardiac catheterization in one child and by Doppler echocardiography in the other two children. These three patients had the lowest body weight among the 16 children undergoing chronic dialysis who were examined cardiologically in our hospital. Autopsy in one child who died from heart failure revealed marked thickening of the leaflets and subvalvar apparatus of the mitral valve with severe obliteration of the intercordal spaces. We found no sign of calcification at the mitral annulus nor at the attachments of the leaflets of the aortic valve, and no Ashoff bodies. We attempted percutaneous catheter balloon valvoplasty in one child which permitted successful renal transplantation after failure of an initial transplantation because of severe pulmonary venous congestion. We conclude that mitral obstructive disease could be a complication of long-term hemodialysis for chronic renal failure. Catheter intervention may serve to release the obstruction, although the procedure is not curative.

A 16-year-old girl with no previous cardiac problems presented to the casualty with septic shock. Investigations revealed endocarditis involving the mitral valve. At the time of surgery, she was noted to have a large left atrial appendage herniating into the left pleural cavity due to partial absence of the pericardium. Complete or partial absence of the pericardium is an uncommon congenital anomaly. Though various complications and presentations are reported, it has not been identified as a risk factor for endocarditis. We discuss the possible mechanism, and need for prophylaxis against endocarditis, in patients with absence of the pericardium.

Real-time three dimensional echocardiography is increasingly used for imaging patients with congenital cardiac malformations. One of the limitations of a transthoracic approach is that intervening structures can impact on the quality of the images obtained. We hypothesised that, during surgery, epicardial three-dimensional echocardiography would provide images of high quality. We report our findings in eight children or young adults, with weights ranging from 2.8 to 70 kilograms, in whom we used this approach. In all cases, we obtained images of good quality, which could be analysed rapidly in the operating room. Of the eight cases, seven had echocardiographic findings which matched exactly the surgical findings. The remaining child had been diagnosed echocardiographically with a cleft in the aortic leaflet of the mitral valve, but was found at surgery to have a double orifice in the valve.