Day 1 :
University of Nebraska Medical Center and Children’s Hospital & Medical Center, USA
Time : 10:00-10:45
Dr. Luca Brunelli, MD, PhD has completed his MD at the University of Genoa Medical School at the age of 25 years and his PhD at the University of Turin at the age of 39. He is an Associate Professor of Pediatrics, and Genetics, Cell Biology and Anatomy at the University of Nebraska Medical Center, and the Division Chief of Neonatology at the University of Nebraska Medical Center and Children’s Hospital & Medical Center in Omaha, Nebraska. He has published more than 20 papers in reputed journals, including Circulation Research, Molecular and Cellualr Biology, and Nature Methods.
14-3-3ε plays an important role in the maturation of the compact ventricular myocardium by modulating the cardiomyocyte cell cycle via p27kip1. However, additional cardiac defects are possible given the ubiquitous expression pattern of this protein. Germ line deletion of 14-3-3ε led to malalignment of both the outflow tract (OFT) and atrioventricular (AV) cushions, with resulting tricuspid stenosis and atresia, mitral valve abnormalities, and perimembranous ventricular septal defects (VSDs). We confirmed myocardial non-compaction and detected a spongy septum with muscular VSDs and blebbing of the epicardium. These defects were associated with abnormal patterning of p27kip1 expression in the subendocardial and possibly the epicardial cell populations. In addition to abnormal pharyngeal arch artery patterning, we found deep endocardial recesses and paucity of intramyocardial coronary vasculature as a result of defective coronary plexus remodeling. The malalignment of both endocardial cushions provides a new explanation for tricuspid and mitral valve defects, while myocardial non-compaction provides the basis for the abnormal coronary vasculature patterning. These abnormalities might arise from p27kip1 dysregulation and a resulting defect in epithelial-to-mesenchymal transformation. These data suggest that 14-3-3ε, in addition to left ventricular non-compaction, might be linked to different forms of congenital heart disease
Stanford University School of Medicine, USA
Keynote: Functional, quality of life, and neurodevelopmental outcomes after congenital cardiac surgery
Time : 11:00-11:45
Megan L Ringle received her medical training at St. George’s University School of Medicine and completed her Pediatric Residency at Miami Children’s Hospital in Miami Florida. She is currently a neonatal- perinatal fellow at Lucile Packard Children’s Hospital, Stanford University School of Medicine. Her clinical interests include the ICU care of newborns with critical congenital heart disease and the neurodevelopmental outcomes and follow up of premature infants and neonates with congenital heart disease.
Throughout the past few decades, advances in cardiology, neonatal intensive care, and surgical techniques have resulted in a growing cohort of thriving school-aged children with previously lethal complex congenital heart diseases. While survival has increased, there remains significant morbidity following repair including neurodevelopmental sequelae. Compared to children with a structurally normal heart, these infants and children have a higher frequency of abnormalities in tone, feeding, and delayed developmental milestones, as well as challenges with speech and learning disabilities, while a higher proportion of adolescents suffer from problems with processing speed, executive function, and a unique set of medical hardships related to exercise intolerance and obesity, medication burden, and mental health comorbidities. Innovative perioperative techniques and early psychosocial intervention in these young survivors has shown that despite the obstacles, the majority of these children can grow to have fulfilling lives with intelligence and social skills in the normal range. Additionally, a comprehensive medical home aids in optimizing the quality of life for these children and their families.