David J. Patton

The evolving approach to paediatric myocarditis: a review of the current literature

Paediatric myocarditis remains challenging from the perspectives of diagnosis and management. Multiple aetiologies exist and the majority of cases appear to be related to viral illnesses. Enteroviruses are believed to be the most common cause, although cases related to adenovirus may be more frequent than suspected. The clinical presentation is extremely varied, ranging from asymptomatic to sudden unexpected death. A high index of suspicion is crucial. There is emerging evidence to support investigations such as serum N-terminal B-type natriuretic peptide levels, as well as cardiac magnetic resonance imaging as adjuncts to the clinical diagnosis. In the future, these may reduce the necessity for invasive methods, such as endomyocardial biopsy, which remain the gold standard. Management generally includes supportive care, consisting of cardiac failure medical management, with the potential for mechanical support and cardiac transplantation. Treatments aimed at immunosuppression remain controversial. The paediatric literature is extremely limited with no conclusive evidence to support or refute these strategies. This article summarises the current literature regarding aetiology, clinical presentation, diagnosis, and management of myocarditis in paediatric patients.

Non-invasive Investigations for the Diagnosis of Fontan-Associated Liver Disease in Pediatric and Adult Fontan Patients

Fontan-associated liver disease (FALD) is a serious complication related to the chronically elevated venous pressure and low cardiac output of this abnormal circulation. However, diagnostic markers for this condition are limited. We hypothesized that specific tests for fibrosis developed for other chronic liver diseases would identify a higher prevalence of FALD than ultrasound and standard laboratory tests and that identified abnormalities would correlate with time post-Fontan. In this cross-sectional study, we assessed 19 children (average age 8.4 ± 4.3 and 5.4 ± 4.1 years post-Fontan) and 8 adults (average age 31.5 ± 8.9 and 21.1 ± 4 years post-Fontan) using standard serum laboratory investigations assessing hepatic integrity and function, the FibroTest, liver ultrasound, and transient elastography (FibroScan). In adult Fontan patients, hemoglobin, C-reactive protein, and gamma-glutamyl transpeptidase were significantly increased, and white blood cell and platelet counts were significantly decreased in comparison to the pediatric cohort. International normalized ratio was mildly elevated in both children and adults. FibroTest results were suggestive of fibrosis regardless of time post-Fontan. FibroScan measurements were significantly correlated with time post-Fontan, but the incidence of ultrasound-detected liver abnormalities was variable. No cases of hepatocellular carcinoma were identified. Abnormalities suggestive of FALD occur in both children and adults post-Fontan. Select laboratory tests, and possibly ultrasound and FibroScan in some patients, appear to have the most promise for the non-invasive detection of FALD.

Unforeseen cardiac involvement in McArdle's disease.

McArdles disease (glycogen storage disease type V) is a rare autosomal recessive metabolic myopathy due to myophosphorylase deficiency. It classically manifests by exercise intolerance, leg cramps, muscle pain and occasionally exercise induced myoglobinuria. The onset of exercise intolerance is typically in the second or third decades of life. It has a specific predilection to skeletal muscle involvement, yet cardiac muscle involvement is very rare. This report describes an unusual case of a 33 year-old man with known McArdles disease who presented with an incidental finding of severe obstructive hypertrophic cardiomyopathy.

Unusual Cardiac Infiltration in Diffuse Large B-Cell Lymphoma

A 38-year-old female presented with fever, shortness of breath and loss of appetite. Physical examination and electrocardiogram were unremarkable. Chest X-ray revealed pleural effusion and wide mediastinum. Contrast-enhanced computed tomography (CT) showed a large heterogeneous anterior mediastinal mass invading the mediastinal structures and left anterior chest wall with encirclement and compression of the main and left pulmonary arteries. The mass invaded the pericardium and was inseparable from the ventricular walls (Fig. 1A, B, and C). CT guided biopsy was obtained and histopathology was consistent with a high-grade diffuse large B-cell lymphoma. Fig. 1 Contrast-enhanced computed tomography showing a large heterogeneous anterior mediastinal mass (arrows) invading the mediastinal structures and left anterior chest wall with encirclement and compression of the main and left pulmonary arteries (A). The ... The patient underwent transthoracic echocardiogram (TTE) as part of routine work-up before chemotherapy. It uncovered normal left ventricular (LV) size with moderate systolic dysfunction and a large mass encircling the anterior and lateral LV walls causing akinesis (Fig. 1D, Supplementary movie 1). Cardiac magnetic resonance (CMR) confirmed the findings of TTE. The mass was hyperintense on T2-weighted and isointense on T1-weighted sequences with no evidence of perfusion. Additionally there was a non-ischemic sub-epicardial to mid wall late gadolinium enhancement involving the anterior wall with extension to a small portion of the anterior septum/anterolateral walls (Fig. 2, Supplementary movie 2). Those findings are in keeping with infiltration of the myocardial wall by the mediastinal lymphoma rather than an external compression. Fig. 2 A: Axial T1-weighted imaging showing the mass inseparable from the left ventricular wall (arrows). B: Short-axis T2-weighted imaging showing myocardial edema in the anterior and lateral walls of the left ventricle (arrowheads) with high signal intensity ... She was treated with 3 cycles of combination chemotherapy (R-ESHAP; rituximab plus etoposide, cytarabine, cisplatinum, and methylprednisolone). Follow-up contrast-enhanced CT showed marginal improvement of the size and extent of the mediastinal mass. Unfortunately, the patient died after completion of chemotherapy and her mode of death was unwitnessed. Diffuse large B-cell lymphoma is an uncommon category of primary mediastinal B-cell lymphoma that originates in the thymus. It is more prevalent in women and young adults. It usually presents with systemic symptoms, shortness of breath, chest discomfort, and palpable lymph nodes. It rarely manifests as an intracardiac mass and likely remains silent and often diagnosed on autopsy. With ventricular invasion, patients usually manifest with ventricular dysfunction which carries a dismal prognosis as noted in our patient.1),2),3) The incorporation of multi-modality imaging is very important in the diagnosis and management of cardiac/extracardiac masses. Discrimination between cardiac infiltration by lymphoma and primary cardiac tumors is complicated. CMR and contrast enhanced CT are the most valuable tools in demarcating direct invasion by nearby mediastinal masses from primary cardiac tumors.4),5) In our case, CMR was very useful in depicting a direct infiltration of the myocardium by the mediastinal lymphoma rather than intracavitary involvement or merely an external compression by the mass.

CMR techniques and findings in children with myocarditis: a multicenter retrospective study

Background CMR is increasingly used to diagnose myocarditis in adults but its use in pediatric-age pts is not well estab- lished. We sought to describe the clinical presentation, CMR imaging protocols, CMR findings, and outcomes in a multicenter cohort of children with myocarditis. Methods 71 studies (66%) and was abnormal in 49 (69%). First pass contrast perfusion (FPP) imaging was performed in 42 studies (45%) and was abnormal in 4 (10%). T1- weighted imaging for early gadolinium enhancement (EGE) was performed in 35 studies (37%) and was abnor- mal in 19 (51%). Late gadolinium enhancement (LGE) imaging was performed in all studies, and was abnormal in 93 (83%) with the following reported distributions: 89% subepicardial or midwall, 6% patchy, 3% sub-endo- cardial, 1% transmural, and 1% diffuse. The CMR study was interpreted as positive for myocarditis in 96 pts (87%), negative in 11 (10%), and equivocal in 4 (4%), yielding a sensitivity of 86% for an ultimate clinical diag- nosis of myocarditis. There was significant practice varia- tion in the use of T2W, FPP, and EGE imaging among the participating institutions (Figure 1). At a median fol- low-up time from CMR of 6 mo (0.2-217), all patients were alive and 3 had undergone cardiac transplantation, all of whom had CMR studies positive for myocarditis. Conclusions This is the largest study to date describing the CMR findings in children with myocarditis. The CMR techni- ques used, from most to least common, were LGE, T2W, FPP, and EGE. Abnormalities were most often seen with LGE followed by T2W, EGE, and FPP. There was significant practice variation in the CMR protocol between institutions. The information from this study should be useful in planning a prospective study to eval- uate the diagnostic and predictive performance of CMR in children with suspected myocarditis. Funding None.

Giant left atrial appendage aneurysm in a neonate.

Giant aneurysm of the left atrial appendage (LAA) is a rare condition typically presenting in adulthood. This case report describes the investigations and surgical management of a giant LAA aneurysm in a neonate, emphasizing the role of echocardiography and cardiovascular magnetic resonance imaging in preoperative evaluation as well as challenges in surgical repair of this defect.

Subscapular tumoral calcinosis in a toddler: case report.

Tumoral calcinosis is uncommon in toddlers, and rare within the subscapular area. Although typically benign, tumoral calcinosis is often incorrectly diagnosed prior to biopsy. We present a case of subscapular tumoral calcinosis in a 16-month old girl and discuss the radiological findings on X-ray, ultrasound, computed tomography and magnetic resonance imaging, including the first description of T1-weighted post contrast imaging, which demonstrate the fibrotic components of tumoral calcinosis.

Patent Ductus Arteriosus with Eisenmenger Syndrome

Herein we report a 21 year-old woman with a previously documented patent ductus arteriosus and Eisenmenger physiology. She presented with increasing cyanosis and exercise intolerance which could be explained by a new finding of right to left shunting through an interatrial communication. She was started on Bosentan therapy aiming to reduce the pulmonary pressure with consideration for heart-lung transplantation should any further deterioration occur.

Successful catheter-based occlusion of persistent left-sided superior vena cava draining into the left atrium.

A 46-year-old woman presented with progressive fatigue. Her past history was remarkable for partial atrio-ventricular septal defect repair at the age of 9 years. Physical examination was notable for obesity, positional desaturation (PaO2 = 92% standing vs. 88% supine) and Grade 2/6 apical pansystolic murmur. Transthoracic echocardiography showed an intact atrial septum and mild mitral regurgitation. Saline contrast injection from the left arm showed prompt filling of both atria with bubbles consistent with a significant extracardiac right-to-left shunt and suggesting communication at the caval level (see …

Unusual cardiac presentation in neurofibromatosis type 1.

A 21-year-old man was evaluated due to past history of recurrent ventricular tachycardia in infancy in the setting of previously documented neurofibromatosis type 1. Physical examination was remarkable for below-knee amputation undertaken for a painful tibial tumour. Electrocardiogram revealed anterior leads T-wave inversion. Transthoracic echocardiography showed possibly two echobright masses embedded within the ventricular septal myocardium and extending towards the left ventricular (LV) apex ( Panel A , arrows; Supplementary data …