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
Brugada Syndrome
young, far eastern males
PR interval prolongation
poor LV function or enlarged
* sickle cell disease
* VT/ VT
- AJMALINE DIAGNOSTIC TEST (A1 antiarrhythmic)
- ECG: coved ST elevation
> avoid fever, excess alcohol, overeating
ICD (implantable cardivoerter-defibs)
DILATED CARDIOMYOPATHY AETIOLOGY
SCN5A gene: main cardiac Na channel; muscular dystrophy
- inflamm, infection, autoIm.
- toxic insult
- REVERSIBLE CAUSES
DILATED CARDIOMYOPATHY PRESENTATION
slow onset: fatigue, PND, orthopnea, Wt. gain, dry cough
- poor periph. perfusion
- ↑JVP
- SOB
- displaced apex
- S3 + S4 MR murmur
Diagnostic Tests of DILATED CARDIOMYOPTHY
rpt ECGs
BNP, LFT, UE, AuAb
cMRI (prognostic value)
DILATED CARDIOMYOPTHY TX
=> correct aneamia, withdraw NSAIDS, correction of disturbances
=> Pt. education on Na intake
=> (1) ramipril (ACE I); valsartan (ARB), DIURETICS
=> (2) BB, spironolactone
=> Transplant
Restrictive & Infiltrative Cardiomyopathy
poorer prognosis, sarcoid/amyloid nature
- relaxation impaired
=> DIURETICS afect filling pressure!
HYPERTROPHIC CARDIOMYOPATHY AETIOLOGY
LARGELY GENETIC!!!!
fHx: early death, generalised heart conditions, MIs
*sarcomere gene (auto dom.); incomplete penetration = var. phenotype
HYPERTROPHIC CARDIOMYOPATHY DEVELOPMENT & PRESENTATION
myocyte disarray; ischaemia and fibrosis of coronary artery d/t disrupted output
- VT/ VF
- HF, fatigue
- Angina
- pre/syncope
- NOTCH PULSE
- AF
- douple apex
- dynamic thrills and murmurs
HYPERTROPHIC CARDIOMYOPATHY Tx
risk reduction and avoiding stress and exertion
> BB; CCB
ACOAG (in AF)
septal reduction surgery
ICD
+2º prevention of c. arrest
MYOCARDITIS AETIOLOGY
- infective
- AuImm.
- toxin
=> impairment = ARRYTHMIA
=> FEVER; HF; SOB
MYOCARDITIS diagnostics
- abn ECG
- cMRI (standard)
- ECHO
- ?viral DNA, strept., lyme disease
MYOCARDITIS Tx
> HF tx: diuretics, ACEI, BB
> arrythmic rx: pacemaker (avoid BB!)
> drug/infective exposure
> immunotherapy
PERICARDITIS aetiology
- infective
- connective tissue disorder
- Radiation
- Trauma: haemopericarditis
PERICARDITIS presentation
+/- myocardium involvement
- short-lived HF symptoms
- postural chest pain: worsens w/ supine
- BACTERIAL FEVER
- pyrexia, PERICARDIAL RUB, ↑JVP
- muffled sounds
ECG: widespread ST concave, II: PR depression
PERICARDITIS Tx
viral: CONSERVATIVE
idiopathic: COLCHICINE (anti-gout) + NSAIDS
- drain + Abx
- general drain: tamponade
