W10: CVD & Genetics & Cardiomyopathies Flashcards
COPY NO. VAR.
whole chrom. affected
- TURNER SYNDROME
- TRISOMY 21
- 22Q11 DELETION
- MAPL Pathway; overlapping genes
- NACHAL TRANSLUCENCY: ↑Fluid = ↑Translucency = ↑Risk of Trisomy21
TURNER SYNDROME
partial or complete absence of X chrom.
- Ao coarc.
- short stature, gonadal dysgenesis, puffy hands, weak webbing (neck webbing)
NOONAN SYNDROME
both males and females
- pulm. stenosis
- widely spaced eyes, protruded breast bone
TRISOMY 21
Translocation; Mosaic
- AV Septal Defect
- Duodenal atresia
22q11 DELETION
- cardiac malformation
- abn. facies
- thymic hypoplasia
- clef palate => speech
DIGEORGE SYNDROME: de novo thymic hypopl.
SHPRINTZEN SYNDROME: familial (small minority of 22111 dels); cleft palate; outflow tract abn.
TERATOGENS & their respective complications
- rubella => PDA (rubella is rude to the baby)
- alcohol => fetal alcohol syndrome (ADHD, facial features, growth stunt)
- sodium valproate => autism risk; neural tube, cleft lip and palate, cardiovascular abnormalities
SINGLE NUCLEOTIDE VARIATION
medelian e.g. Marfans
ASSOCIATIONS
combo of features freq. together but var. effects d/t common embryo pathways affected
CHARGE
VACTERL
CONNECTIVE TISSUE DISEASE: risks and mgmt
rupture risk with LOEYS-DEITZ and EHLER-DANLOS
mgmt:
> bp control: BB, ARB, AORTIC ROOT monitoring
> IRBESARTAN (↓risk of dilatation and rupture)
> SURGERY:
AO valve replacement (long-term ACOAG)
AO root replacement (continuous operation)
EXT. AO. SUPPORT (personalised, non-AO invasive)
MARFANS
Marfans: auto dom. (TGFB signalling
HYPERTROPHIC CARDIOMYOPATHY SARCOMERE DISEASE: pres, aetiology, RF,
mild presentation at old age, common familial, TITIN gene mutation
- RF: pregnancy and alcohol
- arrythmia, myocyte disarray, and overall disrupted conduction pathways
SUDDEN UNEXPECTED DEATH
young, with 1º relatives risk, arryhtmitic nature, ion channelopathy =>long QT syndrome
LONG QT SYNDROME
ROMANO-WARD SYNDROME: syncope, seizure, death | emotion and physical stimulation
- repolarisation anomalies T/U waves
- paroxysmal polymorphic VT (torsade de pointe)
TORSADE DE POINTE
multifoci VT w/ QT prolongation
- QRS complex twist around isoelectric line
- commonly self-terminating
- drug-induced
ION CHANNEL PATHOLOGIES IN LONG QT SYNDROME
KCNQ1 = LQT1
- execrise (swimming)
=> normal/broad T
HERG protein / KCNH2 = LQT2
- noise, arousal
=> notched T
I-Na SCN5A = LQT3
- sleep, bradycardia
=> biphasic T
KCNE1 = LQT5
KCNE2 = LQT6
- swim (norm/broad T) K
- party (notched T) K
- sleep (bi T) Na
