John J. Parent

Does the degree of preoperative mitral regurgitation predict survival or the need for mitral valve repair or replacement in patients with anomalous origin of the left coronary artery from the pulmonary artery

BACKGROUND Anomalous origin of the left coronary artery from the pulmonary artery causes severe myocardial ischemia, global left ventricular dysfunction, and annular dilatation producing varying degrees of mitral regurgitation. Mitral regurgitation secondary to the left ventricular or papillary muscle dysfunction in infants will usually improve in the absence of ongoing ischemia. The aim of this study is to determine the influence of the degree of preoperative mitral regurgitation on the early and late outcomes of patients with anomalous origin of the left coronary artery from the pulmonary artery who underwent coronary reimplantation. METHODS Twenty-five patients underwent coronary reimplantation and 1 early patient had ligation during a 30-year period (median age, 4 months; range, 1 month to 16 years), with a median follow-up of 7 years (range, 4 months to 25 years). Before repair, 7 infants (27%) presented in extremis requiring ventilatory and inotropic support, and 17 patients (65%) presented with heart failure. Mitral regurgitation was present in all patients: trivial in 6 patients, mild in 12 patients, moderate in 5 patients, and severe in 3 patients. No patient underwent mitral valve repair or replacement at the time of anomalous origin of the left coronary artery from the pulmonary artery repair. RESULTS Hospital survival was 92%. Three patients underwent mitral valve repair or replacement at the mean time of 3.5 years (all with severe preoperative mitral regurgitation). The degree of mitral regurgitation gradually improved in all remaining patients with preoperative mild and moderate mitral regurgitation. Echocardiographic studies demonstrated improvement in left ventricular function in all children. None of the patients showed any evidence of supravalvar pulmonary stenosis as a result of their pulmonary artery reconstruction. CONCLUSION Long-term clinical outcome and left ventricular function are good despite severe left ventricular dysfunction at presentation. Mitral valve repair or replacement is generally not necessary at the time of anomalous origin of the left coronary artery from the pulmonary artery repair. Significant residual mitral regurgitation is present in some patients and can usually be managed surgically at a later date depending on its degree of severity.

Abdominal Coarctation and Associated Comorbidities in Children

OBJECTIVE The purpose of this study is to report a single institutions experience with abdominal coarctation in children and report associated comorbidities. BACKGROUND Abdominal coarctation is a rare condition, accounting for less than 2% of aortic coarctations. Single patients with abdominal coarctation have been reported with additional vascular disease in pediatric patients. METHODS Our echocardiography database between January 2001 and January 2012 was searched to identify all patients with abdominal coarctation. Relevant clinical data were reviewed. RESULTS Nine patients were identified with abdominal coarctation. Median age at diagnosis was 4.7 years (IQR 1.1-14.3 years). Additional cardiac diagnoses were found in three patients: one had moderate aortic regurgitation and aortic root dilatation; one had mild aortic regurgitation, severe mitral regurgitation, and atrial flutter; and one had a thoracic coarctation previously repaired. Eight patients (89%) had an associated noncardiac comorbidity. Comorbidities included: Takayasu arteritis (n = 3), systemic lupus erythematosus (n = 1), epidermal nevus syndrome (n = 1), abdominal hemangioma (n = 1), Williams syndrome (n = 1), and renal artery stenosis (n = 2). Intervention was performed in four patients (57%): two underwent surgical grafting and two had angioplasty with stent placement. Patients with surgical grafting required no further intervention, whereas both patients who underwent angioplasty and stenting required further stent placement. CONCLUSION Abdominal coarctation is a rare anomaly. It is frequently associated with other vascular abnormalities. Vasculitis should be suspected in children with abdominal coarctation. All patients, even if treated, require continued close observation.

Recurrent takotsubo cardiomyopathy in a child

Takotsubo cardiomyopathy or transient apical ballooning syndrome very rarely presents in children. In all patients with takotsubo, it is estimated that only 3.5% will have recurrence. In this study, we describe a case of recurrent takotsubo cardiomyopathy in a child, likely triggered by status epilepticus.

Quality of life following paediatric heart transplant: are age and activity level factors?

BACKGROUND We evaluated whether quality of life correlates to age and activity in children following heart transplantation. In addition, quality of life in children following heart transplantation was compared with previously reported values in children with congenital heart disease. Quality of life remains an important aspect of therapy. METHODS The Pediatric Quality of Life Inventory Generic Core Scales and Cardiac Module were administered to 14 children who had previously undergone heart transplantation. Patients wore a pedometer for 7 days to assess daily activity. RESULTS The age at assessment was 13.1±1.9 years. The patients were 7.1±5.7 years post heart transplantation. There was a negative correlation between age at first heart transplantation and emotional (r=-0.64; p<0.05) and school function (r=-0.57; p<0.05). A negative correlation between patients age at assessment and perceived physical appearance existed (r=-0.53; p<0.05). Daily steps negatively correlated with cognitive (r=-0.58; p<0.05), physical (r=-0.63; p<0.05), emotional (r=-0.62; p<0.05), and school function (r=-0.66; p<0.01). Heart transplantation patients reported better scores for treatment and symptoms (p<0.05) but lower physical health scores (p<0.01) than those with moderate congenital heart disease. CONCLUSIONS Paediatric heart transplantation patients reported overall similar quality of life as patients with moderate congenital heart disease. Children receiving heart transplants at an older age may require additional emotional and educational support. Heart transplantation patients with higher activity levels may be more aware of their physical, emotional, and cognitive limitations, and thus score lower on these quality of life indicators.

Delayed Success of Balloon Dilation for Coexisting Pulmonary Valve Stenosis and Sinotubular Narrowing

OBJECTIVES We evaluated the outcomes of children at a single institution who underwent balloon pulmonary valvuloplasty (BPV) for coexisting pulmonary valve stenosis (PVS) and sinotubular narrowing (STN). BACKGROUND BPV is the treatment of choice for PVS in children. Current practice favors surgical repair of moderate, severe, and symptomatic pulmonary stenosis when STN exists. This practice arose from lack of reduction in total pulmonary gradient (TPG) and frequent adverse events from BPV. METHODS A retrospective analysis of outcomes in children with coexisting PVS and STN following BPV at a single institution was performed. RESULTS Twenty-three patients were identified. Median age at BPV was 0.5 years (interquartile range (IQR) 0.3-2). Surgery was avoided in 15/23 (65%) (Group 1) and required in 8/23 (35%) (Group 2) following BPV. Group 1 had a mean baseline peak echo TPG of 60 mm Hg (±12) that decreased to 44 mm Hg (±10) following BPV (P < 0.01) and further to 21 mm Hg (±13) at 3.6 years (±2.2) following BPV (P < 0.01). Group 2 had a mean baseline peak echo TPG of 68 mm Hg (±17). TPG was unchanged by first echo after BPV at 56 mm Hg (±13) and just prior to surgery at 63 mm Hg (±15) (P > 0.10). CONCLUSIONS BPV has minimal acute effect on PVS when STN exists; however; long-term benefits are achieved in most. BPV should be considered first-line therapy given its safety and effectiveness. Only those with worsening clinical signs and symptoms should be referred for surgical repair following BPV.

Severe airway obstruction from a bronchial cast after cardiac transplantation

Plastic bronchitis is a rare and difficult to treat disease process in patients with congenital heart disease. Cardiac transplantation has been used increasingly to reverse this process, especially in single ventricle physiology. This case report demonstrates a foreseeable complication after cardiac transplantation in such a patient.

Results of pulmonary balloon valvuloplasty persist and improve at late follow-up in isolated pulmonary valve stenosis

BACKGROUND Pulmonary balloon valvuloplasty is a safe and effective treatment for children with pulmonary valve stenosis. A few studies evaluate the long-term outcomes of the procedure, particularly the degree of pulmonary regurgitation. We evaluated the outcomes of children >1 year following valvuloplasty for pulmonary valve stenosis. METHODS A retrospective analysis of children with pulmonary valve stenosis following pulmonary balloon valvuloplasty at a single institution was performed. Clinic summaries, catheterisation data, and echocardiographic data were reviewed. Inclusion criteria were isolated pulmonary valve stenosis, age <19 years at the time of intervention, and at least one echocardiogram performed at least 1 year after valvuloplasty. RESULTS A total of 53 patients met inclusion criteria. The median age at valvuloplasty was 0.4 years (0.01-10.6 years). The last follow-up was 4.8±2.3 years following valvuloplasty. The pre-valvuloplasty peak instantaneous gradient by echocardiography was 60.6±14.6 mmHg. The peak gradient at the first postoperative echocardiography was reduced to 25.5±12 mmHg (p<0.001), and further decreased to 14.8±15.8 mmHg (p<0.001) at the most recent follow-up. The degree of regurgitation increased from before valvuloplasty to after valvuloplasty (p<0.001) but did not progress at the most recent follow-up (p=0.17). Only three patients (5.7%) required re-intervention for increasing pulmonary stenosis (two surgical; one repeat balloon). No significant procedural complications occurred. CONCLUSIONS Pulmonary balloon valvuloplasty remains a safe and effective treatment for children with isolated pulmonary valve stenosis, with excellent long-term outcomes and no mortality. A few patients require further intervention. Long-term follow-up demonstrates decreased, residual stenosis. Patients have a small, acute increase in pulmonary regurgitation following valvuloplasty, but no long-term progression.

Management of Complications Caused by a Massive Left Ventricle Tumor in a Neonate

We report the case of a neonate born with a giant fibroma occupying the entirety of her left ventricle. Owing to the extensive resection, her postoperative course was complicated by severely diminished left ventricular function and complete heart block necessitating extracorporeal support. Ultimately, cardiac resynchronization therapy was used, after which the infants ventricular function gradually improved and she was successfully discharged to home.

Noncompaction cardiomyopathy and heterotaxy syndrome

Left ventricular noncompaction cardiomyopathy (LVNC) is characterized by compact and trabecular layers of the left ventricular myocardium. This cardiomyopathy may occur with congenital heart disease (CHD). Single cases document co-occurrence of LVNC and heterotaxy, but no data exist regarding the prevalence of this association. This study sought to determine whether a non-random association of LVNC and heterotaxy exists by evaluating the prevalence of LVNC in patients with heterotaxy. In a retrospective review of the Indiana Network for Patient Care, we identified 172 patients with heterotaxy (69 male, 103 female). Echocardiography and cardiac magnetic resonance imaging results were independently reviewed by two cardiologists to ensure reproducibility of LVNC. A total of 13/172 (7.5%) patients met imaging criteria for LVNC. The CHD identified in this subgroup included atrioventricular septal defects [11], dextrocardia [10], systemic and pulmonary venous return abnormalities [7], and transposition of the great arteries [5]. From this subgroup, 61% (n = 8) of the patients developed arrhythmias; and 61% (n = 8) required medical management for chronic heart failure. This study indicates that LVNC has increased prevalence among patients with heterotaxy when compared to the general population (0.014-1.3%) suggesting possible common genetic mechanisms. Interestingly, mice with a loss of function of Scrib or Vangl2 genes showed abnormal compaction of the ventricles, anomalies in cardiac looping, and septation defects in previous studies. Recognition of the association between LVNC and heterotaxy is important for various reasons. First, the increased risk of arrhythmias demonstrated in our population. Secondly, theoretical risk of thromboembolic events remains in any LVNC population. Finally, many patients with heterotaxy undergo cardiac surgery (corrective and palliative) and when this is associated with LVNC, patients should be presumed to incur a higher peri-operative morbidity based on previous studies. Further research will continue to determine long-term and to corroborate genetic pathways.

Resolution of severe cardiomyopathy in infantile Pompe disease

Infantile Pompe disease is a rare inborn error of metabolism characterized by severe hypertrophic cardiomyopathy and generalised hypotonia occurring in infancy. We present a case of an infant with severe hypertrophic cardiomyopathy that resolved after treatment with enzyme replacement therapy.