Progressive involvement of cardiac conduction system in paediatric patients with Kearns-Sayre syndrome: how to predict occurrence of complete heart block and sudden cardiac death?

AIMS: The aims of this study are to evaluate the progressive involvement of the cardiac conduction system in the Kearn-Sayre syndrome (KSS) and to establish criteria for the prevention of episodes of syncope or sudden cardiac death. METHODS AND RESULTS: This is a prospective monocentric study including KSS patients, with diagnosis based on clinical manifestations, muscle biopsy, and genetic tests, before the age of 18. All patients underwent cardiac screening examination with 12-lead electrocardiogram (ECG), 24-h Holter monitoring, and pacemaker (PM) interrogation twice a year. Fifteen patients (nine males, mean age 16.6 ± 3.9 years) with a sporadic KSS were recruited. All subjects manifested at least one of the intraventricular conduction defects (IVDs): 1 right bundle branch block (RBBB), 2 left anterior fascicular block (LAFB), 11 a bi-fascicular block (RBBB + LAFB), and 1 left posterior fascicular block. Most children with bi-fascicular block developed LAFB before the RBBB (P = 0.0049). In six patients, IVD degenerated into atrioventricular block (AVB). Endocavitary PM was implanted in 11 patients (6 with AVB and 5 with a bi-fascicular block), while an implantable cardioverter-defibrillator only in one patient with a non-sustained ventricular tachycardia. Four died at mean age of 14.7 ± 2.6 years, but none of them suddenly. CONCLUSION: Even a 'simple' ECG can predict the arrhythmic risk and the occurrence of catastrophic events in young patients with KSS. Left anterior fascicular block precedes RBBB in determining the bi-fascicular block and this can predict an inexorable progression of the conduction defects even in a short time. Pacemaker implantation may be indicated in these patients since the first bi-fascicular block manifestation.

A rare case report of an acquired aortopulmonary artery fistula after Bentall procedure: multimodality imaging approach may be the key?

Background: The acquired communication between the aorta and the pulmonary artery is a rare and potentially life-threatening condition. Its diagnosis is challenging and may require a multimodality imaging approach. Case summary: A 67-year-old Caucasian man, admitted for acute respiratory failure unresponsive to medical therapy and non-invasive ventilation, was diagnosed with an aortopulmonary fistula (APF) complicating a pseudoaneurysm of the aortic root. This condition developed after Bentall cardiac surgery, which entailed the use of a straight Dacron aortic graft coupled with a mechanical prosthesis. A multimodal imaging approach, combining echocardiography and computed tomography angiography, was diagnostic and supported the development of a surgical treatment strategy. The patient underwent successful surgical closure of the APF and correction of the aortic pseudoaneurysm. Discussion: Aortopulmonary fistula can result in rapid clinical deterioration if left untreated. The combination of echocardiography and computed tomography angiography techniques allowed for the diagnosis and surgical correction of the APF.

Ebstein's anomaly in children and adults: multidisciplinary insights into imaging and therapy.

Although survival has significantly improved in the last four decades, the diagnosis of Ebstein's anomaly is still associated with a 20-fold increased risk of mortality, which generally drops after neonatal period and increases subtly thereafter. With increasing age of presentation, appropriate timing of intervention is challenged by a wide spectrum of disease and paucity of data on patient-tailored interventional strategies. The present review sought to shed light on the wide grey zone of post-neonatal Ebstein's manifestations, highlighting current gaps and achievements in knowledge for adequate risk assessment and appropriate therapeutic strategy.A 'wait-and-see' approach has been adopted in many circumstances, though its efficacy is now questioned by the awareness that Ebstein's anomaly is not a benign disease, even when asymptomatic. Moreover, older age at intervention showed a negative impact on post-surgical outcome.In order to tackle the extreme heterogeneity of Ebstein's anomaly, this review displays the multimodality imaging assessment necessary for a proper anatomical classification and the multidisciplinary approach needed for a comprehensive risk stratification and monitoring strategy. Currently available predictors of clinical outcome are summarised for both operated and unoperated patients, with the aim of supporting the decisional process on the choice of appropriate therapy and optimal timing for intervention.

Coronary Artery Aneurysm Thrombosis Causing Acute Myocardial Infarction in an Adolescent With Neurofibromatosis Type 1.

Acute myocardial infarction is a rare though possible occurrence in young patients, especially with predisposing conditions, and the treatment is still debated. We present the case of a teenager known to have neurofibromatosis type 1 with acute coronary syndrome caused by coronary aneurysms and thrombotic occlusion of the left circumflex artery treated with a stent-sparing strategy.