Pediatric and adult dilated cardiomyopathy are distinguished by distinct biomarker profiles.

BACKGROUND: Emerging evidence suggests that pediatric and adult dilated cardiomyopathy (DCM) represent distinct diseases. Few diagnostic tools exist for pediatric cardiologists to assess clinical status and prognosis. We hypothesized that pediatric DCM would have a unique biomarker profile compared to adult DCM and controls. METHODS: We utilized a DNA aptamer array (SOMAScan) to compare biomarker profiles between pediatric and adult DCM. We simultaneously measured 1310 plasma proteins and peptides from 39 healthy children (mean age 3 years, interquartile range (IQR) 1-14), 39 ambulatory subjects with pediatric DCM (mean age 2.7 years, IQR 1-13), and 40 ambulatory adults with DCM (mean age 53 years, IQR 46-63). RESULTS: Pediatric and adult DCM patients displayed distinct biomarker profiles, despite similar clinical characteristics. We identified 20 plasma peptides and proteins that were increased in pediatric DCM compared to age- and sex-matched controls. Unbiased multidimensionality reduction analysis suggested previously unrecognized heterogeneity among pediatric DCM subjects. Biomarker profile analysis identified four subgroups of pediatric DCM with distinguishing clinical characteristics. CONCLUSIONS: These findings support the emerging concept that pediatric and adult DCM are distinct disease entities, signify the need to develop pediatric-specific biomarkers for disease prognostication, and challenge the paradigm that pediatric DCM should be viewed as a single disease. IMPACT: Pediatric and adult DCM patients displayed distinct biomarker profiles, despite similar clinical characteristics and outcomes. Our findings suggest that pediatric DCM may be a heterogeneous disease with various sub-phenotypes, including differing biomarker profiles and clinical findings. These data provide prerequisite information for future prospective studies that validate the identified pediatric DCM biomarkers, address their diagnostic accuracy and prognostic significance, and explore the full extent of heterogeneity amongst pediatric DCM patients.

Variation in prenatal surveillance and management of anti-SSA/Ro autoantibody positive pregnancies.

OBJECTIVE: To describe international surveillance and treatment strategies for managing anti-SSA/Ro autoantibody positive pregnancies. STUDY DESIGN: An electronic REDCap questionnaire was distributed to Fetal Heart Society and North American Fetal Therapy Network members which queried institution-based risk stratification, surveillance methods/frequency, conduction abnormality treatments, and postnatal anti-SSA/Ro pregnancy assessment. RESULTS: 101 responses from 59 centers (59% US, 17% international) were collected. Most (79%) do not risk stratify pregnancies by anti-SSA/Ro titer; those that do use varied cutoff values. Many pregnant rheumatology patients are monitored for cardiac abnormalities regardless of maternal anti-SSA/Ro status. Surveillance strategies were based on maternal factors (anti-SSA/Ro status 85%, titer 25%, prior affected child 79%) and monitoring durations varied. Most respondents treat 2° and 3° fetal atrioventricular block, commonly with dexamethasone and/or IVIG. CONCLUSIONS: Wide variation exists in current fetal cardiac surveillance and treatment for anti-SSA/Ro autoantibody positive pregnancies, highlighting the need for evidence-based protocols to optimize care.

Anomalous Origin of Left Pulmonary Artery From the Aorta: A Rare Entity in Congenital Heart Disease.

Anomalous origin of the left pulmonary artery (ALPA) from the aorta is a rare form of congenital heart disease, leading to long-term morbidity if not treated early. There is a reported association of this anomaly with 22q11 microdeletion syndrome. Surgical repair is commonly performed by direct reimplantation to the main pulmonary artery with or without patch or flap techniques. This report presents two unique cases of ALPA, describing embryologic considerations for morphogenesis of ALPA with 22q11 microdeletion syndrome and a novel surgical technique involving unroofing of the unique anatomy of the common wall between the left and main pulmonary arteries.

Long-Term Outcomes of Coarctation Repair Through Left Thoracotomy.

BACKGROUND: Optimal surgical approach for repair of coarctation of the aorta (CoA) remains controversial. This study aimed to evaluate reintervention rates and its predictors by using a strategy of resection with extended end-to-end anastomosis (REEEA) through left thoracotomy. METHODS: A retrospective analysis was performed for all patients who underwent isolated CoA repair or simultaneous repair of CoA and ventricular septal defect repair by REEEA between January 2000 and December 2015 at Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois. Patients with complex congenital heart disease were excluded. Transverse arch hypoplasia was defined as echocardiographic z-score lower than -2 or by documentation in medical or operative reports. Reintervention was defined as the need for balloon angioplasty or reoperation. Hypertension was defined as antihypertensive medication use or blood pressure greater than or equal to the 95th percentile. RESULTS: A total of 251 patients with median age at repair of 14.6 days met inclusion criteria. Repair was by left thoracotomy in 226 (90%). Follow-up data were available for 186 of 251 patients, with median follow-up time of 5.4 years (range, 0.2 to 15.3 years); 169 (91%) of these patients underwent thoracotomy. There were no early deaths or early reoperations. A proximal transverse arch z-score lower than -4.1 or a distal transverse arch z-score of less than -2.8 was predictive of repair through sternotomy. Only 4 (2%) patients required reintervention (2 patients had balloon angioplasties, 2 had reoperations). Transverse arch hypoplasia was a risk factor for reintervention (p = 0.048), but surgical approach was not (p = 0.35). Late hypertension was identified in only 33 of 186 (18%) patients. CONCLUSIONS: Repair of CoA, even with associated transverse arch hypoplasia, by REEEA through left thoracotomy has a low mortality, low reintervention rate, and low incidence of late hypertension.

Can smartphone wireless ECGs be used to accurately assess ECG intervals in pediatrics? A comparison of mobile health monitoring to standard 12-lead ECG.

BACKGROUND: Arrhythmias in children are often paroxysmal, complicating the ability to capture the abnormal rhythm on routine ECG during an outpatient visit. The Alivecor Kardia Mobile (KM) device is a wireless mobile health (mHealth) device that generates a single lead ECG tracing with a FDA-approved algorithm for detection of atrial fibrillation in adults. OBJECTIVE: The goal of this study is to assess the accuracy of interval measurements on KM tracings by directly comparing to standard 12-lead ECGs in pediatric patients. METHODS: This single center, prospective study enrolled pediatric outpatients, age <18 years presenting for cardiology clinic visits, into 3 groups based on age: 0-5 years, 6-10 years, and 11-18 years. Patients were excluded if 12-lead ECG was not ordered during the visit. Each enrolled subject underwent standard 12-lead ECG followed by 30-second KM tracing. ECG parameters were batch read by 2 blinded pediatric electrophysiologists. RESULTS: Thirty patients were recruited with 10 patients/group. Structural heart disease and/or conduction abnormality was present in 20 patients (67%). Majority of tracings (27/30, 90%) were of diagnostic quality on first attempt. Overall, the ΔPR was 15.2±10.8ms (r = 0.86), ΔQRS was 9.6±8ms (r = 0.86), and ΔQTc was 15.6±12.7ms (r = 0.83). There were 9 patients with ΔQTc measurements >20ms with 4/9 (44%) having a conduction disorder and 2/9 (22%) having marked sinus arrhythmia. Bland-Altman method of agreement demonstrated strong agreement for QRSd and QTc. The AF algorithm reported 4/30 (13%) false positive "possible AF" diagnoses (rhythm over-read on KM demonstrated n = 3 marked sinus arrhythmia, n = 1 sinus rhythm with aberrated PACs) resulting in a specificity of 87%. CONCLUSION: The Alivecor Kardia device produces accurate single lead ECG tracings in both healthy children and children with cardiac disease or rhythm abnormalities across the pediatric spectrum. This mHealth application provides an accurate, non-invasive, real-time approach for ambulatory ECG monitoring in children and adolescents.