Analysis of clinical parameters and cardiac magnetic resonance imaging as predictors of outcome in pediatric myocarditis.

Myocarditis causes significant morbidity and mortality in pediatric patients, with potential adverse outcomes including heart failure, transplantation requirement, and/or death. The objective of this study was to determine predictors of early and late poor outcomes, defined as requirement for extracorporeal membrane oxygenation, ventricular assist device, transplantation, or death in pediatric myocarditis patients. A retrospective cohort study was conducted to evaluate pediatric myocarditis presenting over a 5-year period at a pediatric institution. Patients were identified using an institutional heart failure database and International Classification of Diseases, Ninth Revision, discharge diagnosis codes for myocarditis and confirmed by review of medical records. Data extraction included epidemiologic factors, the presenting ejection fraction (EF), initial and peak troponin levels, brain natriuretic peptide (BNP) level, pathogen identification, cardiac magnetic resonance imaging (MRI), and outcomes. Univariate and multivariate regression was performed to identify variables predictive of outcomes. Because published pediatric cardiac MRI data are sparse, whether late enhancement was associated with specific clinical variables or predictive of outcomes was also evaluated. Fifty-eight patients were identified. The mean age was 10.5 years, 64% were male, 62% were Caucasian, 15% were African-American, and 23% were Hispanic or Asian. Eighty-one percent presented at the institution <1 week after symptom onset. Presenting EFs were normal (>50%) or mildly decreased (40% to 50%) in 48%, moderately decreased (30% to 40%) in 9%, and severely decreased (<30%) in 42%. Thirty patients (52%) underwent viral studies; 17 of these (56%) had acute viral origins of myocarditis identified, including 8 with parvovirus (2 with influenza coinfection), 7 with enterovirus, 1 with Epstein-Barr virus, and 1 with cytomegalovirus. Twenty-eight percent had poor outcomes. Univariate analysis identified Hispanic or Asian race (odds ratio [OR] 4.5, p = 0.05), a severely decreased EF (OR 13, p = 0.002), initial BNP >10,000 pg/ml (OR 5.6, p = 0.01), and peak BNP >10,000 pg/ml (OR 13.65, p = 0.001) as risk factors for poor outcomes; initial and peak troponin >1 ng/ml were correlated significantly with good outcomes (OR 0.22, p = 0.04, and OR 0.26, p = 0.05, respectively). Multivariate analysis adjusting for severe EF, troponin, BNP, and cardiac MRI revealed peak BNP >10,000 ng/L (OR 27.71, p = 0.04), a severely decreased EF (OR 12.8, p = 0.03), and late enhancement on cardiac MRI (OR 24.51, p = 0.04) as risk factors for poor outcomes. Thirty-four patients underwent cardiac MRI (50% with abnormal and 50% with normal results). No significant differences were found between these groups with respect to gender, race, symptom duration, the EF, BNP, troponin, inflammation on cardiac biopsy, or pathogen identification. In conclusion, this study provides data from a large cohort of pediatric myocarditis patients. A presenting EF <30%, peak BNP >10,000 ng/L, and cardiac MRI late enhancement were identified as predictors of poor outcomes.

An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine.

We describe a young girl with dilated cardiomyopathy, long QT syndrome, and possible energy deficiency. Two major sequence changes were identified by whole exome sequencing (WES) and mitochondrial DNA analysis that were interpreted as potentially causative. Changes were identified in the KCNH2 gene and mitochondrial tRNA for cysteine. A variation was also seen in MYPBC3. Since the launch of WES as a clinically available technology in 2010, there has been concern regarding the identification of variants unrelated to the patient's phenotype. However, in cases where targeted sequencing fails to explain the clinical presentation, the underlying etiology could be more complex than anticipated. In this situation, the extensive reach of this tool helped explain both her phenotype and family history.