The Prevalence and Association of Exercise Test Abnormalities With Sudden Cardiac Death and Transplant-Free Survival in Childhood Hypertrophic Cardiomyopathy.

BACKGROUND: Hypertrophic cardiomyopathy (HCM) can be associated with an abnormal exercise response. In adults with HCM, abnormal results on exercise stress testing are predictive of heart failure outcomes. Our goal was to determine whether an abnormal exercise response is associated with adverse outcomes in pediatric patients with HCM. METHODS: In an international cohort study including 20 centers, phenotype-positive patients with primary HCM who were <18 years of age at diagnosis were included. Abnormal exercise response was defined as a blunted blood pressure response and new or worsened ST- or T-wave segment changes or complex ventricular ectopy. Sudden cardiac death (SCD) events were defined as a composite of SCD and aborted sudden cardiac arrest. Using Kaplan-Meier survival, competing outcomes, and Cox regression analyses, we analyzed the association of abnormal exercise test results with transplant and SCD event-free survival. RESULTS: Of 724 eligible patients, 630 underwent at least 1 exercise test. There were no major differences in clinical characteristics between those with or without an exercise test. The median age at exercise testing was 13.8 years (interquartile range, 4.7 years); 78% were male and 39% were receiving beta-blockers. A total of 175 (28%) had abnormal test results. Patients with abnormal test results had more severe septal hypertrophy, higher left atrial diameter z scores, higher resting left ventricular outflow tract gradient, and higher frequency of myectomy compared with participants with normal test results (P<0.05). Compared with normal test results, abnormal test results were independently associated with lower 5-year transplant-free survival (97% versus 88%, respectively; P=0.005). Patients with exercise-induced ischemia were most likely to experience all-cause death or transplant (hazard ratio, 4.86 [95% CI, 1.69-13.99]), followed by those with an abnormal blood pressure response (hazard ratio, 3.19 [95% CI, 1.32-7.71]). Exercise-induced ischemia was also independently associated with lower SCD event-free survival (hazard ratio, 3.32 [95% CI, 1.27-8.70]). Exercise-induced ectopy was not associated with survival. CONCLUSIONS: Exercise abnormalities are common in childhood HCM. An abnormal exercise test result was independently associated with lower transplant-free survival, especially in those with an ischemic or abnormal blood pressure response with exercise. Exercise-induced ischemia was also independently associated with SCD events. These findings argue for routine exercise testing in childhood HCM as part of ongoing risk assessment.

Chylothorax related to acute SARS-CoV-2 infection in a patient with Noonan syndrome with prior uncomplicated cardiac surgeries.

SARS-CoV-2 is a novel coronavirus that has rarely been associated with chylothorax. Patients with Noonan syndrome are at risk for developing chylothorax, especially after cardiothoracic interventions. We present the case of SARS-CoV-2 infection triggering the underlying tendency of a patient with Noonan syndrome to develop chylothorax who did not develop it even after prior cardiothoracic interventions. Patient presented in respiratory distress without hypoxia and was found, on imaging, to have a large right-sided pleural effusion, which was eventually classified as chylothorax. The patient was then started on a low-fat diet. Chest tube drainage substantially reduced the effusion in size, and it remained stable. Our report highlights that SARS-CoV-2 infection can cause the development of a chylothorax or a chylous effusion in patients with Noonan syndrome or among populations with a similar predisposition. A high index of suspicion in vulnerable patients or those not responding to traditional therapy should exist with providers, thus leading to the testing of the fluid to confirm the diagnosis.

Current Practices in Treating Cardiomyopathy and Heart Failure in Duchenne Muscular Dystrophy (DMD): Understanding Care Practices in Order to Optimize DMD Heart Failure Through ACTION.

Cardiac disease has emerged as a leading cause of mortality in Duchenne muscular dystrophy in the current era. This survey sought to identify the diagnostic and therapeutic approach to DMD among pediatric cardiologists in Advanced Cardiac Therapies Improving Outcomes Network. Pediatric cardiology providers within ACTION (a multi-center pediatric heart failure learning network) were surveyed regarding their approaches to cardiac care in DMD. Thirty-one providers from 23 centers responded. Cardiac MRI and Holter monitoring are routinely obtained, but the frequency of use and indications for ordering these tests varied widely. Angiotensin converting enzyme inhibitor and aldosterone antagonist are generally initiated prior to onset of systolic dysfunction, while the indications for initiating beta-blocker therapy vary more widely. Seventeen (55%) providers report their center has placed an implantable cardioverter defibrillator in at least 1 DMD patient, while 11 providers (35%) would not place an ICD for primary prevention in a DMD patient. Twenty-three providers (74%) would consider placement of a ventricular assist device (VAD) as destination therapy (n = 23, 74%) and three providers (10%) would consider a VAD only as bridge to transplant. Five providers (16%) would not consider VAD at their institution. Cardiac diagnostic and therapeutic approaches vary among ACTION centers, with notable variation present regarding the use of advanced therapies (ICD and VAD). The network is currently working to harmonize medical practices and optimize clinical care in an era of rapidly evolving outcomes and cardiac/skeletal muscle therapies.

A Validated Model for Sudden Cardiac Death Risk Prediction in Pediatric Hypertrophic Cardiomyopathy.

BACKGROUND: Hypertrophic cardiomyopathy is the leading cause of sudden cardiac death (SCD) in children and young adults. Our objective was to develop and validate a SCD risk prediction model in pediatric hypertrophic cardiomyopathy to guide SCD prevention strategies. METHODS: In an international multicenter observational cohort study, phenotype-positive patients with isolated hypertrophic cardiomyopathy <18 years of age at diagnosis were eligible. The primary outcome variable was the time from diagnosis to a composite of SCD events at 5-year follow-up: SCD, resuscitated sudden cardiac arrest, and aborted SCD, that is, appropriate shock following primary prevention implantable cardioverter defibrillators. Competing risk models with cause-specific hazard regression were used to identify and quantify clinical and genetic factors associated with SCD. The cause-specific regression model was implemented using boosting, and tuned with 10 repeated 4-fold cross-validations. The final model was fitted using all data with the tuned hyperparameter value that maximizes the c-statistic, and its performance was characterized by using the c-statistic for competing risk models. The final model was validated in an independent external cohort (SHaRe [Sarcomeric Human Cardiomyopathy Registry], n=285). RESULTS: Overall, 572 patients met eligibility criteria with 2855 patient-years of follow-up. The 5-year cumulative proportion of SCD events was 9.1% (14 SCD, 25 resuscitated sudden cardiac arrests, and 14 aborted SCD). Risk predictors included age at diagnosis, documented nonsustained ventricular tachycardia, unexplained syncope, septal diameter z-score, left ventricular posterior wall diameter z score, left atrial diameter z score, peak left ventricular outflow tract gradient, and presence of a pathogenic variant. Unlike in adults, left ventricular outflow tract gradient had an inverse association, and family history of SCD had no association with SCD. Clinical and clinical/genetic models were developed to predict 5-year freedom from SCD. Both models adequately discriminated between patients with and without SCD events with a c-statistic of 0.75 and 0.76, respectively, and demonstrated good agreement between predicted and observed events in the primary and validation cohorts (validation c-statistic 0.71 and 0.72, respectively). CONCLUSION: Our study provides a validated SCD risk prediction model with >70% prediction accuracy and incorporates risk factors that are unique to pediatric hypertrophic cardiomyopathy. An individualized risk prediction model has the potential to improve the application of clinical practice guidelines and shared decision making for implantable cardioverter defibrillator insertion. Registration: URL: https://www.clinicaltrials.gov; Unique identifier: NCT0403679.

Successful Allogeneic Stem Cell Transplant in Pediatric Patients With Diminished Left Ventricular Ejection Fractions.

Chemotherapy-associated cardiotoxicity may delay or impair the ability to administer fully myeloablative chemotherapy for stem cell transplant in those with reduced left ventricular ejection fraction. Studies in adults have been inconsistent regarding the value of ejection fraction in predicting cardiotoxicity in the posttransplant period. Recent publications, however, have demonstrated successful stem cell transplantation in adults despite low ejection fractions. This case series highlights 2 pediatric patients who were successfully treated with stem cell transplantation without posttransplant cardiac complications, despite pretransplant ejection fractions of 38% and 29%.

Fetal Echocardiography is Useful for Screening Fetuses with a Family History of Cardiomyopathy.

We screened all fetal echocardiograms performed at our institution for the past 5 years for the indication of family history of cardiomyopathy. Twenty-six patients were identified who had fetal echocardiograms performed due to a family history of cardiomyopathy. Three out of 26 patients (11.5%) had findings of decreased ventricular function and dilation consistent with cardiomyopathy. All who had cardiomyopathy on fetal echocardiography had parents with genetic mutations (2 maternal, 1 paternal), including one mother who had a cardiac transplant at age 8 for dilated cardiomyopathy. All 3 affected infants had prenatal planning for high level care and were transferred to our facility immediately after birth for cardiology evaluation and management. 2 patients required inotropic support in the newborn period. One patient was transplanted at age 2 months. One patient required ECMO support for one week and initially recovered, but subsequently required mechanical support and listing for heart transplant. We recommend patients with a strong family history of cardiomyopathy in either parent, especially those with known genetic mutations associated with cardiomyopathy, have fetal echocardiograms performed.

Takotsubo cardiomyopathy secondary to non-accidental trauma presenting as an "unwitnessed" arrest.

Takotsubo cardiomyopathy is characterised by akinesis and ballooning of the left ventricular apex during contraction of the otherwise normal base of the heart. We describe the case of a 7-month-old previously healthy female who presented with an unwitnessed cardiac arrest. Workup raised suspicion for non-accidental trauma. Despite progression to brain death, the severely decreased ventricular function and apical akinesis of the left ventricle improved within 40 hours of admission. This report will familiarise paediatricians with this rare cardiomyopathy and emphasise the importance of considering non-accidental trauma as an inciting event for patients with unwitnessed cardiac arrest found to have decreased ventricular function.

Clinical characterisation of a novel SCN5A variant associated with progressive malignant arrhythmia and dilated cardiomyopathy.

INTRODUCTION: The SCN5A gene is implicated in many arrhythmogenic and cardiomyopathic processes. We identified a novel SCN5A variant in a family with significant segregation in individuals affected with progressive sinus and atrioventricular nodal disease, atrial arrhythmia, dilated cardiomyopathy, and early sudden cardiac arrest. METHODS: A patient pedigree was created following the clinical evaluation of three affected individuals, two monozygotic twins and a paternal half-brother, which lead to the evaluation of a paternal half-sister (four siblings with the same father and three mothers) all of whom experienced varying degrees of atrial arrhythmias, conduction disease, and dilated cardiomyopathy in addition to a paternal history of unexplained death in his 50s with similar autopsy findings. The index male underwent sequencing of 58 genes associated with cardiomyopathies. Sanger sequencing was used to provide data for bases with insufficient coverage and for bases in some known regions of genomic segmental duplications. All clinically significant and novel variants were confirmed by independent Sanger sequencing. RESULTS: All relatives tested were shown to have the same SCN5A variant of unknown significance (p. Asp197His) and the monozygotic twins shared a co-occurring NEXN (p. Glu575*). Segregation analysis demonstrates likely pathogenic trait for the SCN5A variant with an additional possible role for the NEXN variant in combination. CONCLUSIONS: There is compelling clinical evidence suggesting that the SCN5A variant p. Asp197His may be re-classified as likely pathogenic based on the segregation analysis of our family of interest. Molecular mechanism studies are pending.

Echocardiographic Guidance During Neonatal and Pediatric Jugular Cannulation for ECMO.

BACKGROUND: Internal jugular vein extracorporeal membrane oxygenation (ECMO) cannula position is traditionally confirmed via plain film. Misplaced cannulae can result in need for repositioning and increased morbidity. Echocardiography (ECHO) may be used during cannulation as a more accurate means of guiding cannula position. This study reviews the effect of a protocol encouraging the use of ECHO at cannulation. METHODS AND MATERIALS: Single institution retrospective review of patients who received ECMO support using jugular venous cannulation. We compared those who underwent ECHO (ECHO+) at the time of cannulation with those who did not (ECHO-). RESULTS: Eighty-nine patients were included: 26 ECHO+, 63 ECHO-. Most ECHO+ patients underwent dual-lumen veno-venous (VV) cannulation (65%); 32% of ECHO- patients had VV support (P = 0.003). There was no difference in the rate of cannula repositioning between the two groups: 8% ECHO+ and 10% ECHO-, P = 0.78. In the VV ECMO subgroup, ECHO+ patients required no repositioning (0/17), while 20% (4/20) of ECHO- VV patients did (P = 0.10). After cannulation, there were 0.58 ECHO studies per patient to verify cannula position in the ECHO+ group compared with 0.22 in the ECHO- group (P = 0.02). Each group had a major mechanical complication: atrial perforation from a guidewire during cannulation in ECHO+ and late atrial perforation from a loose cannula in ECHO-, and there was no difference in minor complications. CONCLUSIONS: ECHO guidance during neonatal and pediatric jugular cannulation for ECMO did not decrease morbidity or reduce the need for cannula repositioning. ECHO may still be a useful adjunct for precise placement of a dual-lumen VV cannula and during difficult cannulations.

Successful treatment of disseminated adenovirus infection with cidofovir and intravenous immunoglobulin in an infant following heart transplant.

For most patients, adenoviruses cause few acute health concerns and are often self-limiting. Patients who are immunocompromised or immunosuppressed, however, are at risk for disseminated adenovirus and suffer high morbidity and mortality, without well-defined treatment options. We report the case of a 9-month-old boy who was successfully treated for disseminated adenovirus infection with intravenous immunoglobulin and cidofovir 3 months post heart transplant, tailored to serum adenoviral load and clinical response. We emphasise the importance of early identification, monitoring, and a potentially novel treatment in the paediatric cardiac transplant population with disseminated adenovirus infection.

Cancer recurrence and mortality after pediatric heart transplantation for anthracycline cardiomyopathy: A report from the Pediatric Heart Transplant Study (PHTS) group.

We aimed to determine whether malignancy after pediatric HTx for ACM affects overall post-HTx survival. Patients <18y listed for HTx for ACM in the PHTS database between 1993 and 2014 were compared to those with DCM. A 2:1 matched DCM cohort was also compared. Wait-list and post-HTx survival, along with freedom from common HTx complications, were compared. Eighty subjects were listed due to ACM, whereas 1985 were listed for DCM. Although wait-list survival was higher in the ACM group, post-HTx survival was lower for the ACM cohort. Neither difference persisted in the matched cohort analysis. Primary cause of death in the ACM group was infection, which was higher than the DCM group. Malignancy rates were not different. All ACM malignancies were due to PTLD without primary cancer recurrence or SMN. Long-term graft survival after pediatric HTx for ACM is no different than for matched DCM peers, nor is there an increased risk of any malignancy. However, risk of infection and death from infection after HTx are higher in the ACM group. Further studies are needed to assess the effects of prior chemotherapy on susceptibility to infection in this group.

Central Arterial Function Measured by Non-invasive Pulse Wave Analysis is Abnormal in Patients with Duchenne Muscular Dystrophy.

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutation of dystrophin. Cardiovascular involvement includes dilated cardiomyopathy. Non-invasive assessment of vascular function has not been evaluated in DMD. We hypothesize arterial wave reflection is abnormal in patients with DMD. Pulse wave analysis was performed on DMD patients with a SphygmoCor SCOR-PVx System to determine central blood pressure and augmentation index (AIx) as an assessment of arterial wave reflection. Results were compared to a control group. A total of 43 patients with DMD were enrolled, and compared to 43 normal controls. Central systolic blood pressure was lower, while both AIx-75 (7.8 ± 9.6% vs. 2.1 ± 10.4%, p 0.01, DMD vs. normal) and AIx-not corrected (16.8 ± 10.1% vs. -3.6 ± 10.9, p < 0.001, DMD vs. normal) were higher in the DMD compared to control. Using multivariable linear regression model, the variables found to have a significant effect on AIx-not corrected included diagnosis of DMD, height, and heart rate (r 2 = 0.257). The current data suggest that, despite lower central systolic blood pressure, patients with DMD have higher wave reflection when compared to normal controls, which may represent increased arterial stiffness. Overall there appears to be no effect on ventricular systolic function, however the long-term consequence in this group is unknown. Further study is required to determine the mechanism of these differences, which may be related to the effects of systemic steroids or the role of dystrophin in vascular function.

Strategies to Prevent Cast Formation in Patients with Plastic Bronchitis Undergoing Heart Transplantation.

Plastic bronchitis, a rare complication after Fontan palliation, carries a high morbidity and mortality risk. Heart transplantation is an effective treatment option, but casts may occur in the early post-operative period. We present a case series detailing peri-operative management strategies to minimize morbidity and mortality related to plastic bronchitis in patients undergoing heart transplantation. Patient 1 received no treatment pre-, intra-, or post-transplant for prevention of bronchial casts and developed severe respiratory acidosis 18 h following transplant. Emergent bronchoscopy was performed and a large obstructive cast was removed. The patient recovered and received inhaled tissue plasminogen activator (tPA) for 5 days. Patient 2 received inhaled tPA before, during, and for 5 days after transplantation and no bronchial casts developed. Patient 3 underwent intraoperative bronchoscopy just prior to implantation revealing no casts. The patient underwent non-urgent, preemptive bronchoscopy on post-transplant days 1, 3, and 4, removing several partially obstructive bronchial blood clots/casts, with no casts thereafter. Heart transplantation results in eventual resolution of plastic bronchitis. Residual bronchial casts can still be problematic in the peri-operative period. Airway clearance with inhaled tPA or bronchoscopy may prevent the need for prolonged mechanical ventilation and reduce post-operative morbidity in this unique population.

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.

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.

Fibrillin-1 Gene Mutations in Left Ventricular Non-compaction Cardiomyopathy.

Left ventricular non-compaction cardiomyopathy (LVNC) is a unique cardiomyopathy with a current yield of about 30-40 % in identifying a causative gene mutation. A retrospective review of all patients with LVNC at our institution was performed and genetic testing was reviewed. Echocardiographic and cardiac magnetic resonance imaging was reviewed to corroborate the reported phenotype. We present a series of patients with LVNC dilated phenotype associated with fibrillin-1 gene mutations. Fifty-one patients were identified as having LVNC with reduced left ventricular function and/or left ventricular dilation. We retrospectively reviewed gene testing in this cohort when available and identified 5 patients (10 %) with an FBN1 gene mutation. Syndrome breakdown as follows: 3 with Marfan, 1 with Shprintzen-Goldberg, and 1 with no identifiable syndrome. Derangements in fibrillin-1 may impact the compaction process resulting in LVNC. Although causation has not been proven by our report, it certainly raises interest in a possible mechanistic relationship between fibrillin-1 and LVNC given the increased prevalence of Marfan syndrome and fibrillin-1 gene mutations in this cohort.

Medical Therapy Leads to Favorable Remodeling in Left Ventricular Non-compaction Cardiomyopathy: Dilated Phenotype.

Left ventricular non-compaction cardiomyopathy (LVNC) is a distinct and heterogeneous entity that can lead to progressive cardiac dysfunction and heart failure. LVNC with dilation and/or dysfunction is associated with a greater mortality risk. We hypothesized that initiation of heart failure medications in patients with LVNC and ventricular dysfunction or dilation would improve systolic function and result in favorable left ventricular remodeling. The study was a retrospective chart review. Inclusion criteria included: presence of LVNC, reduced systolic function or ventricular dilation, therapy with at least one medication (beta blocker, angiotensin-converting-enzyme inhibitor, angiotensin II receptor blocker), imaging pre- and post-initiation of therapy. Fifty-one patients met inclusion criteria. Mean age at initiation of medication was 11.5 ± 11.8 years. Follow-up was 2.4 ± 2.3 years. Three patients (6 %) were solely on a beta blocker, 15 (29 %) on ACE/ARB monotherapy, and 33 (65 %) on dual therapy. At follow-up 45/51 patients (88 %) had improvement in ejection fraction/shortening and 6/51 (12 %) had no change. Ejection fraction, shortening fraction, and left ventricular end-diastolic dimension in the cohort before and after therapeutic intervention demonstrated a 16 ± 12 % improvement in ejection fraction (p < 0.0001), an 8 ± 9 % improvement in shortening fraction (p < 0.0001), and a 0.83 ± 1.93 (p < 0.05) decrease in left ventricular end-diastolic z-score. Early diagnosis and medical treatment of LVNC with reduced systolic function and/or dilation leads to favorable remodeling evident by an improvement in ventricular systolic function and reduction of ventricular end-diastolic dimensions.

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.

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.

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 patient's 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.