Cardiac and neuromuscular disorders Flashcards
Give an example of syndromic heart disease
Di George
Give an example of non-syndromic heart disease
Maternal diabetes increases the risk of VSDs
What questions should be considered in congenital cardiac disease?
Isolated
Family history
Syndromic
Chromosomal
Teratogenic exposure
What is an isolated condition with significant FH where the offspring of affected mothers have a higher risk than the offspring of affected fathers?
CHD
Is there a higher risk of mortality with syndromic or chromosomal CHD?
Syndromic
What causes most syndromic diagnoses
Single gene
Give an example of a syndromic diagnosis causing CVD
Noonan syndrome: pulmonary valve stenosis esp PTPN11
What can maternal SLE cause?
Complete heart block (20-40%)
What causes Marfan’s syndrome?
FBN1 mutations
DMD gene mutation
High CK
In-frame deletions give a __________ phenotype, out of frame deletions lead to __________.
Becker
Duchenne
DMD symptoms
Loss of ambulation at 7-13 yo
Scoliosis
Nocturnal hypoventilation
Gene therapy for DMD
Upregulation of utrophin
Targetted exon skipping
DMD management
Steroids
Bone health
PGD
What does myotonic dystrophy affect?
- skeletal and smooth muscle
- eye
- heart
- endocrine system
- CNS
