congenital cardiac diseases and brain

INTRODUCTION: Zika virus infection during pregnancy causes fetal microcephaly and brain damage. Congenital Zika syndrome (CZS) is characterized by systemic involvement with diffuse muscle impairment, a high frequency of arthrogryposis, and microphthalmia. Cardiac impairment in CZS has rarely been evaluated. Our study assessed morphology and biventricular cardiac function in children with CZS and advanced neurological dysfunction. METHODS: This cross-sectional study was conducted on 52 children with CZS (Zika group; ZG) and 25 healthy children (control group; CG) in Paraiba, Brazil...

BACKGROUND: Hypothyroidism is prevalent at all ages and represents a non-communicable disease with preventable consequences. METHOD: Narrative review. REVIEW: In children and adolescents, the most devastating consequences of undertreatment with levothyroxine (LT4) are poor growth and development. Delayed treatment in congenital hypothyroidism can lead to permanent brain damage. In young to middle-aged adults, symptoms are often overlooked, and treatment delayed by many years...

BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber syndrome, is a rare genetic disorder characterized by the development of telangiectasias and arteriovenous malformations (AVMs) throughout the body. We present a case of percutaneous embolization of pulmonary AVMs in an adult patient. CASE SUMMARY: A 26-year-old male patient with polycythaemia of unknown origin and a family history of secundum atrial septal defect underwent cardiac evaluation which revealed clubbing as a sign of peripheral cyanosis...

BACKGROUND: There are limited data about changes in cardiac function (cardiac reverse remodeling) and heart failure indices after transcatheter tricuspid valve-in-valve replacement (TT-VIVR). The purpose of this study was to evaluate cardiac reverse remodeling and temporal changes in heart failure indices after TT-VIVR in adults with congenital heart disease. METHODS: Retrospective cohort study of adults with congenital heart disease that underwent TT-VIVR and had >6 months of follow-up (January 1, 2011, to April 30, 2023)...

BRAIN INJURY DURING TRANSITION IN THE NEWBORN WITH CONGENITAL HEART DISEASE: HAZARDS OF THE PREOPERATIVE PERIOD: Jennifer M. Lynch, J. William Gaynor, Daniel J. Licht Seminars in Pediatric Neurology Volume 28, December 2018, Pages 60-65 Infants born with critical congenital heart disease are at risk for neurodevelopmental morbidities later in life. In-utero differences in fetal circulation lead to vulnerabilities which lead to an increased incidence of stroke, white matter injury, and brain immaturity. Recent work has shown these infants may be most vulnerable to brain injury during the early neonatal period when they are awaiting their cardiac surgeries...

The Fontan procedure is the final palliative surgery in a series of staged surgeries to reroute the systemic venous blood flow directly to the lungs, with the ventricle(s) pumping oxygenated blood to the body. Advances in medical and surgical techniques have improved patients' overall survival after the Fontan procedure. However, Fontan-associated chronic comorbidities are common. In addition to chronic cardiac dysfunction and arrhythmias, complications involving other organs such as the liver, lungs, intestine, lymphatic system, brain, and blood frequently occur...

Myocardial cysts represent a miscellaneous and infrequent spectrum of conditions, with each of them coming from a different etiological background. Congenital myocardial cysts, neoplasia, cysts of infectious origin (bacterial, viral, or parasitic), and cardiac pathologies that may fake cystic content are all encompassed in this group. Although most patients are asymptomatic, some may occasionally present with obstruction, valvular dysfunction, or heart failure. Even more uncommon is the coexistence of a myocardial cyst with other extracardiac locations causing extracardiac symptoms...

OBJECTIVE: Fetuses with complex congenital heart disease have altered physiology, contributing to abnormal neurodevelopment. The effects of altered physiology on brain development have not been well studied. We used multi-modal imaging to study fetal circulatory physiology and brain development in hypoplastic left heart syndrome (HLHS) and d-transposition of the great arteries (TGA). METHODS: This prospective, cross-sectional study investigated individuals with fetal congenital heart disease and controls undergoing fetal echocardiography and fetal brain MRI...

BACKGROUND: Multi-segment thoracic aortic disease typically requires total aortic arch replacement, affects a heterogenous population, and carries a high risk even at centers of excellence. Risk has been associated with duration of operation and complexity of repair. A novel branched stented anastomosis frozen elephant trunk repair (B-SAFER) technique has been developed at our center, and is being studied as a physician-sponsored investigation device exemption (PS-IDE). OBJECTIVE: Of this study is to assess early safety of using this investigational technique to treat the proximal aorta in subjects with aortic disease involving multiple segments...

OBJECTIVE: 15q11.2 microdeletion can lead to syndromes affecting the nervous system. However, 15q11.2 microdeletion has large phenotypic differences and incomplete penetrance, which brings challenges to prenatal diagnosis. We reported 21 cases of 15q11.2 microdeletion fetuses in Eastern China and reviewed literature on the prenatal clinical characteristics related to the deletion variants to provide a basis for prenatal genetic counseling. METHODS: The clinical data of 21 cases of 15q11...

Dramatic advances in the management of congenital heart disease (CHD) have improved survival to adulthood from less than 10% in the 1960s to over 90% in the current era, such that adult CHD (ACHD) patients now outnumber their pediatric counterparts. ACHD patients demonstrate domain-specific neurocognitive deficits associated with reduced quality of life that include deficits in educational attainment and social interaction. Our hypothesis is that ACHD patients exhibit vascular brain injury and structural/physiological brain alterations that are predictive of specific neurocognitive deficits modified by behavioral and environmental enrichment proxies of cognitive reserve (e...

Neuromuscular diseases (NMDs) affect the development and growth of the neuromuscular system in children. The pathology can occur anywhere along the neuromuscular pathway, from the brain to the nerves to the muscle fibers. These diseases have a profound impact on the quality of life not only of children but also of their families. The predominant manifestation in NMDs is hypotonia, which leads to muscle weakness and fatigue, reduced mobility, and decreased physical performance. However, multiple organ systems can be affected, with resulting orthopedic, cardiac, infectious, respiratory, and nutritional problems...

BACKGROUND: Congenital heart disease (CHD) affects roughly 40,000 children annually. Despite advancements, children undergoing surgery for CHD are at an increased risk for adverse neurological outcomes. At present, there is no gold standard for the diagnosis of cerebral injury during the perioperative period. OBJECTIVE: To determine the utility of brain injury biomarkers in children undergoing cardiac surgery. METHODS: We searched PUBMED, EMBASE, LILACS, EBSCO, ClinicalTrials...

BACKGROUND: The Consortium Linking Academic and Regulatory Insights on Bisphenol A Toxicity (CLARITY-BPA) was a collaborative research effort to better link academic research with governmental guideline studies. This review explores the secondary goal of CLARITY-BPA: to identify endpoints or technologies from CLARITY-BPA and prior/concurrent literature from these laboratories that may enhance the capacity of rodent toxicity studies to detect endocrine disrupting chemicals (EDCs). METHODS: A systematic literature search was conducted with search terms for BPA and the CLARITY-BPA participants...

INTRODUCTION: The SALL4 gene encodes a transcription factor that is essential for early embryonic cellular differentiation of the epiblast and primitive endoderm. It is required for the development of neural tissue, kidney, heart, and limbs. Pathogenic SALL4 variants cause Duane-radial ray syndrome (Okihiro syndrome), acro-renal-ocular syndrome and Holt-Oram syndrome. We report a family with vertical transmission of a SALL4 pathogenic variant leading to radial hypoplasia and kidney dystopia in several generations with additional growth hormone deficiency (GHD) in the proband...

Complex pediatric cardiac disease is associated with brain impairment and neurodevelopmental disorders, particularly in patients requiring cardiac surgery for aortic arch anomalies. This study examines the incidence, risk factors, and outcomes of perioperative brain injury in children undergoing aortic arch repair who had aortic arch anomalies. A total of 145 children with aortic arch anomalies in our center undergoing aortic arch repair between January 2014 and December 2022 were enrolled. There were 129 (89...

Left main coronary artery ostial atresia (LMCAOA) is an extremely rare condition. Here, we report the case of a 14-year-old boy with Noonan syndrome-like disorder in whom LMCAOA was detected following cardiopulmonary arrest. The patient had been diagnosed with Noonan syndrome-like disorder with a pathogenic splice site variant of CBL c.1228-2 A > G. He suddenly collapsed when he was running. After administering two electric shocks using an automated external defibrillator, the patient's heartbeat resumed...

BACKGROUND: We evaluated the correlation between regional oxygen saturation (rSO2 ) in the frontal and right renal dorsum (cerebral rSO2 and somatic rSO2 ) measured by near-infrared spectroscopy (INVOS™ 5100C, Medtronic) and central venous oxygen saturation (ScvO2 ) measured with a fiber-optic oximetry catheter (PediaSat™, Edwards Lifesciences) during surgery in order to determine whether noninvasive rSO2 could be used as an alternative to ScvO2 in pediatric cardiac surgery patients...

OBJECTIVES: Children with univentricular congenital heart disease undergoing staged surgical palliation are at risk for impaired neuro-developmental outcome. Little is known about the long-term effects on brain growth until school-age. METHODS: In a prospective two centre study consecutive patients undergoing stage I (Hybrid or Norwood) to stage III (Fontan procedure) were evaluated by two serial cerebral MRI examinations, somatic growth, and neuro-developmental testing before Fontan procedure at 2 years of age (Bayley-III) and after Fontan at 6-8 years of age (WPPSI-III)...

While congenital heart disease is not uncommon, cyanotic congenital heart disease (CCHD) accounts for a minor fraction of them. However, when cyanosis is present, it usually indicates a severe or critical illness. Tetralogy of Fallot (TOF) is one of the common CCHDs, representing 7-10% of all congenital cardiac malformations. Double-outlet right ventricle (DORV) is another CCHD similar to the TOF and associated with decreased pulmonary flow, ventricular septal defect (VSD), and aorta receiving blood from both ventricles...