scholarly journals Seizures Are Associated With Brain Injury in Infants Undergoing Extracorporeal Membrane Oxygenation

2020 ◽  
pp. 088307382096691
Author(s):  
Sarah L. Bauer Huang ◽  
Ahmed S. Said ◽  
Christopher D. Smyser ◽  
John C. Lin ◽  
Kristin P. Guilliams ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Brain Injury ◽  
Extracorporeal Membrane Oxygenation ◽  
Congenital Heart ◽  
Left Heart ◽  
Severe Brain Injury ◽  
Hypoplastic Left Heart ◽  
Membrane Oxygenation ◽  
Left Heart Syndrome

Objective: Determine seizure frequency and association with neurologic outcomes in infants undergoing extracorporeal membrane oxygenation. Identify patient or clinical factors associated with seizures or brain injury on imaging. Methods: Retrospective, single-center study including infants less than 1 year of age, who underwent extracorporeal membrane oxygenation between 2012 and 2017. Results: A total of 104 infants met study criteria including 45 patients with continuous electroencephalographic (EEG) monitoring during their extracorporeal membrane oxygenation run and 59 infants without EEG. Seizures (electrographic-only or electro-clinical) were identified in 18 of the 45 (40%). Among the 18 infants with seizures, 14 (78%) had moderate to severe brain injury, whereas only 44% of those without seizures (12 of 27) on EEG had moderate to severe brain injury ( P = .03). Cardiopulmonary resuscitation prior to extracorporeal membrane oxygenation (ECPR), mode of extracorporeal membrane oxygenation, length of stay, survival to discharge, and congenital heart disease were not associated with seizures. One of 10 patients with cyanotic congenital heart disease due to hypoplastic left heart syndrome had seizures compared with 7 of 10 patients with non–hypoplastic left heart syndrome lesions ( P = .02). Seizures were associated with moderate to severe brain injury, after adjusting for ECPR and congenital heart disease ( P = .04). Conclusions: Electrographic seizures were common in patients undergoing extracorporeal membrane oxygenation and higher than previously reported. Seizures were associated with moderate to severe abnormalities on imaging, after adjusting for ECPR and congenital heart disease. This study adds to recent literature describing the risk of seizures in patients on extracorporeal membrane oxygenation and highlights the presence of brain injuries that may be identified by routine EEG surveillance.

scholarly journals Patient-specific functional genomics and disease modeling suggest a role for LRP2 in hypoplastic left heart syndrome

2019 ◽  
Author(s):  
Jeanne L. Theis ◽  
Georg Vogler ◽  
Maria A. Missinato ◽  
Xing Li ◽  
Almudena Martinez-Fernandez ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Hypoplastic Left Heart Syndrome ◽  
Congenital Heart ◽  
Whole Genome ◽  
Left Heart ◽  
Heart Model ◽  
Hypoplastic Left Heart ◽  
Left Heart Syndrome ◽  
Human Ipsc

ABSTRACTCongenital heart diseases (CHD), such as hypoplastic left heart syndrome (HLHS), are considered to have complex genetic underpinnings that are poorly understood. Here, an integrated multi-disciplinary approach was applied to identify novel genes and underlying mechanisms associated with HLHS. A family-based strategy was employed that coupled whole genome sequencing (WGS) with RNA sequencing of patient-derived induced pluripotent stem cells (iPSCs) from a sporadic HLHS proband-parent trio to identify, prioritize and functionally evaluate candidate genes in model systems. Consistent with the hypoplastic phenotype, the proband’s iPSCs had reduced proliferation capacity. Filtering WGS for rare de novo, recessive, and loss-of-function variants revealed 10 candidate genes with recessive variants and altered expression compared to the parents’ iPSCs. siRNA/RNAi-mediated knockdown in generic human iPSC-derived cardiac progenitors and in the in vivo Drosophila heart model revealed that LDL receptor related protein LRP2 and apolipoprotein APOB are required for robust hiPSC-derived cardiomyocyte proliferation and normal hear structure and function, possibly involving an oligogenic mechanism via growth-promoting WNT and SHH signaling. LRP2 was further validated as a CHD gene in a zebrafish heart model and rare variant burden testing in an HLHS cohort. Collectively, this cross-functional genetic approach to complex congenital heart disease revealed LRP2 dysfunction as a likely novel genetic driver of HLHS, and hereby established a scalable approach to decipher the oligogenic underpinnings of maladaptive left heart development.One sentence summaryWhole genome sequencing and a multi-model system candidate gene validation - human iPSC-derived cardiomyocytes and Drosophila and zebrafish hearts - identified lipoprotein LRP2 as a new potential driver in congenital heart disease and suggests a deficit in proliferation as a hallmark of hypoplastic left heart syndrome.

scholarly journals Palliative surgery of a patient with hypoplastic left heart syndrome and low body weight.

2020 ◽  
Vol 13 (1) ◽  
pp. 51-54
Author(s):  
Ilya Soynov ◽  
Alexander Omelchenko ◽  
Irina Keyl ◽  
Anastasiya Leykekhman ◽  
Oleg Chaschin ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Body Weight ◽  
Heart Disease ◽  
Hypoplastic Left Heart Syndrome ◽  
Congenital Heart ◽  
Palliative Surgery ◽  
Left Heart ◽  
Hypoplastic Left Heart ◽  
Cavopulmonary Anastomosis ◽  
Left Heart Syndrome

Hypoplastic left heart syndrome is a congenital heart disease that affects the normal blood flow through the heart and it characterized by a critical underdevelopment of the left heart. Hypoplastic left heart syndrome is 1.43.8% among all congenital heart defects and 16% among critical congenital heart disease. Mortality in large cardiac surgery centers currently does not exceed 15%. However, mortality among patients with low body mass is up to 51% after the first stage of palliative surgery. In our clinical case, we describe hemodynamic surgery in neonatal with left-heart hypoplasia syndrome and low body weight (Norwood procedure with Sano shunt), postoperative case management inter-stage period and bidirectional cavopulmonary anastomosis procedure (second stage of hemodynamic correction).

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