Congenital heart disease + Genetic heart disease Flashcards
(26 cards)
Congenital heart disease causes
Copy number variation
- whole chromosone (trisomy, monosomy)
- part of whole chromosone ( 22q11 deletion, Williams)
Single nucleotide variation
-Mendelanian disorders ( Noonan/CFC, Marfan, SVAS, Holt-Oram)
CNV/SNV
-charge association
Multifactorial
- isolated CHD
- VACTERL association
Teratogens
- rubella
- alcohol
- anti epiletic drugs
- maternal diabettes mellitus
Down’s syndrome
- Trisomy 21 ( maternal non-disjunction, translocation, mosaic)
- AV septal defects
- duodenal artesia
Cystic hygroma is associated with CHD
-fetuses may have abnormal chromosones
-
Turner’s syndrome
- (45, X)
- coarctation of aorta, short stature, gonadal dysgenesis
- puff hands
Syndromes with neck webbing
Excess nuchal folds
- turner syndrome
- noonan syndrome
- CFC syndrome
- Leopard syndrome
- Costello syndrome
Noonan Syndrome
- pulmonary stenosis
- short stature
- neck webbing
- cryptorchidism
- characteristic face
- PTPN11 gene(chr 12)
22q11 deletion syndrome
C ardiac malformation A bnormal fancies T hymic hypoplasia C left palate H ypoparathyroidism 22q11 deletion
- renal
- psychiatric
DiGeorge Syndrome
- thymic hypoplasia
- hypoparathyroidism
- outflow tract cardiac malformation
- sporadic
Shprintzen syndrome
22q11 deletion syndrome encompasses???
- cleft palate/palatal insufficiency
- outflow tract cardiac malformation
- characterisitc face
- autosomal dominant
Williams syndrome
- aortic stenosis ( supravalvular)
- hypercalcemia
- 5th finger clindactyly
- deletion of elastin on Chr7 + contiguous genes
- LIM kindase
Conditions/drugs that act as teratogens
- fetal alcohol syndrome ( IUGR, head?, face, ADHD) caused by 3-5 units per week?
- antiepiletic drugs
- rubella
- maternal diabetes mellitus
What is Marfan’s syndrome?
- disorder of connective tissue which affects many organs
- tall/thin
What is Marfan’s syndrome caused by
=autosomal dominant
- fibrillin 1 gene
- chromosone 15q21
- TGFR 2 (and TGFR 1)
- chromosome 3p22 (9q33)
Symptoms of marfan’s syndrome
- tall stature/pectus carinatum/arachnodactyly
- lens subluxation
- mild aortic root dilation
Diagnosis of Marfan’s syndrome
2 positive findings of :
CVS
-aortic dilation/dissection
Eyes
-ectopia lentis
Systemic score >/=7
- Skeletal
- skin
- respiratory
- dural ectasia
- mitral valve prolapse
- myopia
FMX
-history
Fibrillin 1
-mutation known to cause it
Treatment of Marfan’s treatment
- annual clinical review of:
- ECHO
- Beta blockers
- Angiotensin 2 receptor blockers
- prophylatic aortic surgery if sinus of valsalva exceeds (>5.5cm)
- monitor aortic root during pregnancy if exxceeds 4cm
Aortic root surgery
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Marfan-like syndromes
Loeys- Dietz syndrome
-arterial dissection, torotuosity, bifid uvula/cleft palate, hypertelorism, skin + skeletal findings
Familial Thoracic Aortic Aneurysm
Mass Phenotype
Most common cause of Sudden uexpected death
1-40yrs
- arrhythmic
- inherited heart disease
- had an ion channelopathy
What is long QT syndrome?
-condition that affects repolarization of the heart after a heartbeat. It results in an increased risk of an irregular heartbeat which can result in fainting, drowning, or sudden death. T
Causes of Long QT syndrome
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Genotype prediction
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What is brugada syndrome
genetic disorder in which the electrical activity within the heart is abnormal
Featiures of Bragada’s syndrome ( ECG)
- prolonged PR interval
- enlarged LV/poor LV function
- M>F
