Sarcomere protein gene mutations are an important cause of idiopathic RCM in childhood. We describe the first mutation in ACTC in familial RCM. The identification of RCM in a child should prompt consideration of sarcomere protein disease as a possible cause and warrants clinical evaluation of the family.

The outcome of treated patients remains heterogeneous despite attempts at immunomodulation. Failure to thrive at baseline and left ventricular dilation appear to be associated with poorer outcomes.

Background— We undertook the first prospective, national, multicenter study to describe the incidence and outcome of heart muscle disease–induced heart failure in children. Methods and Results— Data were collected on patients admitted to a hospital through 2003 with a first episode of heart failure in the absence of congenital heart disease. All 17 pediatric cardiac centers in the United Kingdom and Ireland participated. Follow-up data were obtained to a minimum of 1 year. The incidence was 0.87/100 000 population <16 years (n=104; 53 girls; 95% confidence interval 0.71 to 1.05 per 100 000). Median age at presentation was 1 year, with 82% in New York Heart Association class III to IV. Causes of heart failure included dilated cardiomyopathy (50 idiopathic, 8 familial), probable myocarditis (23), occult arrhythmia (7), anthracycline toxicity (5), metabolic disease (4), left ventricular noncompaction (3), and other (4). Overall 1-year survival was 82%, and event (death or transplantation)-free survival was 66%. Regression analysis showed older age and reduced systolic function on admission echocardiogram increased the event risk. Only 8% of event-free survivors (n=69) remained in New York Heart Association class III to IV, but 35 required readmission during the study period, and all but 8 remained on medication. Conclusions— This first national prospective study of new-onset heart failure in children has shown an incidence of 0.87/100 000. Multivariable analysis of survival data indicates a better outcome for younger children and for those with better systolic function at presentation, but overall, one third of children die or require transplantation within 1 year of presentation.

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Background-Cytomegalovirus (CMV) infection has been implicated as a cause of posttransplantation coronary artery disease in adults. The purpose of this retrospective observational study was to evaluate the effect of CMV on outcome after heart transplantation in children. Methods and Results-Risk factors tested were recipient age, sex, and pretransplantation CMV serology; use of anti-CMV prophylaxis; posttransplantation evidence of CMV infection; and donor CMV serology. Transplantations were stratified traditionally according to CMV risk as low risk (recipient negative/donor negative), intermediate risk (recipient positive), and high risk (recipient negative/donor positive). Primary outcome measures were (1) development of coronary artery vasculopathy, (2) mortality (or graft loss) that occurred outside the early postoperative period, and (3) death (or graft loss) due to vasculopathy. Analysis was by proportional hazards modeling. A total of 165 children underwent heart transplantation, with a mean age at transplantation of 7.8 (SD 5.6) years. Thirty-two children had laboratory evidence of CMV infection after transplantation, but only 6 developed CMV disease or syndrome. Traditional CMV risk stratification correlated well with CMV infection but did not predict mortality, coronary artery disease, or coronary death. In contrast, positive recipient CMV was the only independent predictor of all 3 outcome measures: coronary artery disease (hazard ratioϭ3.6), all-cause mortality (partial hazard ratioϭ4.1), and coronary death (hazard ratioϭ4.6). Conclusions-In children, pretransplantation recipient CMV status is a more powerful predictor for the development of clinically significant vasculopathy and subsequent death than traditional risk stratification. This phenomenon warrants further investigation.

Objective: To review the outcome of cardiac transplantation for restrictive cardiomyopathy (RCM) in children and to assess the ability of new strategies to modulate the effects of high pulmonary vascular resistance. Design: Retrospective case note analysis of all patients receiving a transplant for RCM. Patients: 18 children with RCM referred for transplantation assessment to Great Ormond Street Hospital, London. Results: Eight boys and 10 girls were referred for assessment. Median age at presentation was 5.0 (mean (SD) 6.1 (4.0)) years. Fourteen orthotopic and two heterotopic transplantations were performed and two patients were referred for heart-lung transplantation. Mean duration from diagnosis to transplantation was 3.3 (3.0) years. Three patients with haemodynamic decompensation before transplantation had increased morbidity in the postoperative period. No patients died while awaiting a transplant. Three patients died in the first year after transplantation, one within 30 days. Five patients received pretransplantation prostacyclin for a mean duration of 57 (18) days. Transpulmonary gradient was reduced in four of the patients. Mean transpulmonary gradient was 27 (9.8) mm Hg before and 17 (6.7) mm Hg after treatment with prostacyclin (p , 0.05). Conclusion: Most children with RCM require transplantation within four years of diagnosis. Referral for transplantation assessment should precede haemodynamic decompensation. Increase of pulmonary vascular resistance is a variable problem but can be modulated with pre-transplantation prostacyclin. With these strategies, orthotopic transplantation is possible in the majority of cases.

RVD occurred in approximately 40% of pediatric VAD recipients and affects their peri-implantation morbidity and bridging outcomes. Preoperative extracorporeal membrane oxygenation and elevated urea were risk factors for BiVAD. Additional studies of the management of RVD in children after VAD implantation are warranted.