23 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
of information: Pediatrics ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology ... Neonatology #Peds #Pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... diagnosis #management #cardiology ... #peds #pediatrics
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD ... #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot 

1. Right ventricular outflow tract obstruction 

2. Right ventricular hypertrophy 

3. Ventricular septal
#Fallot #Peds #Pediatrics ... #Cardiology #Signs ... #Symptoms #Diagnosis
Aortic Stenosis & Bicuspid Aortic Valve (AS)
 • Introduction & Pathophysiology
 • Classifications
 • Epidemiology
 •
Introduction & Pathophysiology ... #AorticValve #cardiology ... #peds #pediatrics
Atrioventricular Septal Defect
aka AV canal defect aka endocardial cushion defect
 • Epidemiology and Associations
 • Embryology
Physical Exam • Pathophysiology ... management #peds #pediatrics ... #cardiology
Algorithm for the Evaluation and Management of Suspected Congenital Heart Disease in Neonates

Neonates with undiagnosed congenital
with nonspecific symptoms ... Neonatal #Peds #Pediatrics ... #Cardiology
Ebstein Anomaly
 • Prevalence
 • Pathophysiology
 • Presentation
 • Physical Examination Findings
 • Initial Management
 •
Prevalence • Pathophysiology ... diagnosis #management #cardiology ... #pediatrics #peds