Chance
Is routine EKG and/or echo screening recommended for all high school and college athletes?
NO.
Screening approach to identify high risk athletes includes a targeted history and CV focused physical (exertional syncope, lightheadedness, chest pain, excessive fatigue, shortness of breath, family hx, premature death or disability (<50yrs), fam hx marfan, long QT, hypertrophic cardiomyopathy
What is the most common cause of neural tube defects?
Folate deficiency.
Children with asplenia are especially susceptible to what category of bacteria?
Encapsulated. Examples include: Streptococcus pneumoniae, Haemophilus influenzae type b, and Neisseria meningitidis.
Most common maternal antibodies to cause neonatal Lupus?
Antibodies to Ro/SSA (Sjögren syndrome type A antigen) and/or La/SSB (Sjögren syndrome type B antigen).
What is the inheritance pattern associated with hypertrophic cardiomyopathy?
Autosomal dominant.
(First-degree family members of patients with hypertrophic cardiomyopathy should be evaluated for the condition as well).
The most common types of spinal muscular atrophy (SMA) have what type of inheritance pattern?
Autosomal recessive.
SMN1 gene mutation, the most common types of spinal muscular atrophy result from mutations on chromosome 5q.
What is the most common cause of sudden death in the young U.S. athlete?
hypertrophic cardiomyopathy (HCM)
other important causes: coronary artery anomalies, commotio cordis (blow to the chest resulting in V-fib), aortic rupture 2/2 dilated aortic root (Marfan), others including long QT, WPW
Elevation of this laboratory value is helpful in making the diagnosis of Duchenne muscular dystrophy
Creatinine kinase.
Other muscle enzymes, such as AST, ALT, and aldolase are also elevated in DMD; the elevation of creatinine kinase, however, is most specific for Duchenne muscular dystrophy.
The most common infectious trigger of erythema multiforme in children
herpes simplex virus (HSV)
Which valve is most commonly affected in rheumatic valvulitis?
The mitral valve.
Mitral regurgitation is a particularly characteristic manifestation of rheumatic carditis.
When a child presents with symptoms concerning for hemorrhagic stroke, the most sensitive and specific test for diagnosis is what?
non-contrast CT scan of the brain
Bilateral facial nerve palsy is pathognomonic for what infectious disease?
Lyme disease
Most common solid extracranial tumor in children
<1 year: muscular
>1 year: perimembranous septum (btwn aortic and tricuspid valve)