4 results
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
Peripartum Cardiomyopathy - Summary
1. Definition
 • Towards the end of pregnancy to 5 months postpartum
exclude other causes ... Genetic predisposition ... Clinical • Under-recognized ... teratogenic GDMT meds ... #management #cardiology
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
hyperinflammatory syndrome caused ... Familial) HLH: - Genetic ... Onset: Usually in infancy ... Clinical Presentation ... Common Signs and Symptoms
Peripartum Cardiomyopathy (PPCM)

What is PPCM?
• A form of acute systolic heart failure that develops late in
normal pregnancy symptoms ... Key Point: High clinical ... Susceptibility • Genetic ... recognition and management ... Cardiomyopathy #Cardiology