2711 results
Causes of Dilated Cardiomyopathy DCMP - Differential Diagnosis Algorithm
Idiopathic DCMP: Viral, Inflammatory cardiomyopathy, Genetic causes, Unknown
Genetically determined: Autosomal ... dominant, Autosomal ... Algorithm #Causes #cardiology
Arrhythmogenic Right Ventricular Dysplasia (ARVD)

• A small positive deflection buried in the terminal QRS complex (Epsilon
Epsilon wave) • Autosomal ... EpsilonWave #Diagnosis #Cardiology
Congenital Long QT Syndrome: Illness Script

Who?
 - Kids or young adults, usually < 30
 - high
• May be autosomal ... Syndrome #Diagnosis #Cardiology
Autosomal Dominant Inheritance
 - Most common mode of Mendelian inheritance 
 - Affected individual carries the
Autosomal Dominant ... one of a pair of autosomes ... #Autosomal #Dominant
Marfan Syndrome - Signs and Symptoms

- Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15)
-
fibrillin function - Autosomal
Inherited Non-hemolytic Disorders of Hyperbilirubinemia 

== Disorders of Conjugation ==
Gilbert Syndrome:
 • 5-10% of the population
syndrome • An autosomal ... a super rare, autosomal ... Type II CN is an autosomal ... Syndrome: • Autosomal ... Dubin-Johnson: • Autosomal
Von Recklinghausen's Syndrome - Neurofibromatosis Type 1 (NF1) 
Hereditary multiple neurofibromas. 
Autosomal dominant with high rate
Autosomal dominant
Krabbe Disease 

Check out this interesting case of Krabbe disease, a rare genetic leukodystrophy. Diagnosis was
Diagnosis was made by radiology ... • Autosomal ... MRI #Clinical #Radiology
Malignant Hyperpyrexia
A rare complciation of halothane or suxamethonium.
Predisposition to developing this is inherited (autosomal dominant).

#Malignant #Hyperpyrexia
is inherited (autosomal
Cystic Fibrosis 
An autosomal recessive condition. Mutations affect a specific gene on chromosome 7. The affected
Fibrosis An autosomal