Congenital heart disease Flashcards
What is turner syndrome?
Affects females
Missing sex chromosome (45, x)
Short stature
Delayed puberty
Absence of menstruation
Incomplete sexual development
Aortic coarctation
Neck webbing
What is down’s syndrome?
Trisomy 21
Main risk factor is maternal age
Diagnosis with nuchal scan
What is noonan syndrome?
PNPNII mutation
Distinctive facial features
Neck webbing
Pulmonary valve stenosis
Septal defects
What are noonan like syndromes?
Costello
CFC (cardio-facial-cutaneouos)
What is 22 qii deletion syndrome?
Deletion of a small piece of chromosome 22
Encompasses both DiGeorge syndrome and Shprintzen syndrome
CATCH22 symptoms
What does CATCH22 stand for?
Cardiac malformation
Abnormal facies
Thymic hypoplasia
Cleft palate
Hypoparathyroidism
22qII deletiom
What is DiGeorge syndrome?
Thymic hypoplasia
Hypoparathyroidism
Cardiac malformation
What is shprintzen syndrome (velocardiofacial)?
Cleft palate
Cardiac malformation
Abnormal facies
What is Williams syndrome?
Microdeletion of elastin on chromosome 7
Heart defects
Unusual facial features
What is Marfan’s syndrome?
Mutation of fibrillin 1 gene on chromosome 15q21
Connective tissue disorder
Autosomal dominant
Tall stature
Pectus carinatum
Long fingers
Lens displacement
Aortic dissection
Scoliosis
Flat feet
Myopia
What is long QT syndrome?
Heart rhythm disorder
Sudden fainting
Palpitations
Dizziness
Seizures
Sudden death
Brugada syndrome?
Disruption in normal heart rhythm
Defect in SCN5A gene
Blackouts
Seizures
Palpitations
Prolonged PR interval and ST elevation
