Arterial ischemic stroke in children with congenital heart diseases

Abstract

Background: We describe the prevalence, thromboembolic risk factors, and neurologic outcomes in children with congenital heart disease (CHD) and arterial ischemic stroke (AIS). Methods: We retrospectively analyzed the clinical data of children with CHD and AIS from 2000 to 2016. Demographics, procedural and postprocedural data, neuroimaging findings, details of antithrombotic treatment, and neurological status at last follow up were evaluated. Results: Patients with cyanotic CHD accounted for 24 of 30 cases with AIS. The majority of AIS (70%) was procedure related, and the mean time from procedure to diagnosis of stroke was 9.7 (range, 1-30) days. At the time of AIS, 14 (46.7%) patients revealed coexistence of additional thromboembolic causes of AIS. Three patients (10.0%) experienced recurrent AIS and six patients (20.0%) were diagnosed with post-stroke epilepsy. The unfavorable outcomes were found in 13 patients (43.3%), including four deaths. The unfavorable outcome was significantly associated with the main branch involvement of middle cerebral artery (OR = 10.296, 95% CI = 1.335-79.439) and hemorrhagic transformation (OR = 16.264, 95% CI = 1. 359-194.690). Conclusions: Additional thromboembolic risk factors such as systemic or cardiac thrombus, arrhythmia, and surgical procedures for cyanotic CHD were found in patients with CHD and AIS. The main branch involvement of middle cerebral artery and hemorrhagic transformation were significant predictors of unfavorable outcomes. Further studies are required to identify the target for stroke prevention and develop better prophylactic strategies to minimize AIS in patients with CHD.

Discovery and functional investigation of BMP4 as a new causative gene for human congenital heart disease

“…As an array of cardiovascular developmental deformations, CHD is clinically categorized into > 30 distinct isoforms, encompassing double-outlet right ventricle (DORV) and ventricular septal defect (VSD) [2,[7][8][9][10][11][12][13][14]. Though certain mild/minor forms of CHD may resolve spontaneously [2], severe/complex forms of CHD usually lead to worse quality of life [15][16][17], reduced exercise performance [18][19][20][21], neurodevelopmental delay and structural brain anomaly [22][23][24][25][26], ischemic/thromboembolic stroke [27,28], acute renal injury/chronic kidney disease [29][30][31][32], hepatic fibrosis [33,34], pulmonary dysplasia/ pulmonary arterial hypertension [35][36][37], bacte-Am J Transl Res 2024;16 (5):2034-2048 rial endocarditis [38][39][40][41][42], chronic heart failure [43][44][45], supraventricular/ventricular arrhythmias [46][47]…”

Discovery of BMP10 as a new gene underpinning congenital heart defects

“…As a vast collection of cardiovascular developmental anomalies, CHD is clinically assorted to >26 diverse isoforms, including patent ductus arteriosus (PDA), aortic/pulmonary atresia, aortic/pulmonary stenosis, aortic coarctation, aortopulmonary window, atrial/ ventricular septal defect, tetralogy of Fallot (the Am J Transl Res 2024;16(1):109-125 commonest cyanotic CHD), atrioventricular septal defect, single ventricle, endocardial cushion defect, transposition of the major arteries, double outlet right ventricle, aortic arch interruption, abnormal coronary artery connection, cor triatriatum, and left heart hypoplasia/left ventricular noncompaction/spongy myocardium [2,[6][7][8][9][10][11]. Though some minor types of CHD do resolve spontaneously [2], severe types of CHD may give rise to degraded health-correlated quality of life [12][13][14][15], impaired exercise capacity [16][17][18], pulmonary arterial hypertension [19][20][21], acute brain injury and delayed neurodevelopment [22][23][24][25], thromboembolic/ischemic cerebral stroke [26][27][28], acute renal injury and chronic kidney disease [29][30][31], liver fibrosis and dysfunction [32], infective endocarditis [33][34][35][36][37], chronic/congestive heart failure [38][39][40], miscellaneous supraventricular and life-threatening ventricular dysrhythmias [41]…”

Somatic GATA4 mutation contributes to tetralogy of Fallot

“…As a global pediatric concern, congenital heart defects comprise a wide spectrum of cardiovascular developmental defects, which are categorized into >25 distinct clinical subtypes, including tetralogy of Fallot (TOF) (1). Although certain minor congenital heart defects spontaneously resolve, severe congenital heart disease may lead to poor health and quality of life (5)(6)(7)(8), diminished physical exercise capacity (9)(10)(11)(12)(13), impaired neurodevelopment (the most prevalent extracardiac manifestation in patients with a congenital heart defect) and brain damage (14)(15)(16)(17)(18), thromboembolic complications (19)(20)(21), acute renal injury and chronic kidney disease (22)(23)(24), hepatic dysfunction (25), pulmonary arterial hypertension (26)(27)(28), infective endocarditis (29)(30)(31), congestive cardiac failure (32)(33)(34), miscellaneous cardiac dysrhythmia (35)(36)(37) and cardiovascular demise (38)(39)(40). Improvement has been made in cardiovascular surgery and transcatheter interventional treatment, which has allowed >90% of children with congenital heart defects to survive to adulthood; adults living with various congenital heart defects outnumber children affected by congenital heart defects (41)…”