genetic CV diseases Flashcards
(37 cards)
cause of down syndrome
Trisomy 21
down syndrome effects on CV
Atrio-ventricular septal defects
cause of turner syndrome
(45,X)
cause of 2q11 syndrome
22q11 deletion (sporadic (DiGeorge) or autosomal dominant (Shprintzen)) chromosome 22
cause of Williams syndrome
Deletion of elastin on chromosome 7
deletion of contiguous genes
cause of marfans
Autosomal dominant fibrillin 1 gene chromosome 15q1 Excessive TGFbetaR 2/1 signalling molecule chromosome 3p22
cause of Romano-ward syndrome
Long QT syndrome
Jervell lange-neilsen syndrome (congenital deafness too)
Exercise – broad- KCNQ1
noise/arousal – notched – KCNH2
sleepy – biphasic – SCN5A
screening for; KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2.
cause of brugada syndrome
SCN5A
cause of ARVD
Autosomal dominant;
PKP2, DSG2, DSP, desmocillin 2, desmoplakin, plakoglobin, TMEM43, TGFB3, RYR2
turner syndrome effects on CV
coarctation of aorta
22q11 deletion effects on CV
cardiac malformation
interrupted aortic arch
truncus arteriosus
teratology of Fallot
william’s syndrome effects on CV
aortic stenosis
hypercalcemia
murmurs for 1st year
foetal alcohol syndrome effects on CV
ventricular/septal defect
marfans effects on CV
Aortic dilatation/dissection, mitral valve prolapse
romano ward syndrome effects on CV
long QT syndrome
Prolonged GT interval
repolarisation anomalies, paroxysmal polymorphic Ventricular tachycardia
brugada syndrome effects on CV
Ventricular tachycardia/fibrillations episodically
St elevation on V1-3
ARVD effects on CV
Effort induced tachycardia cardiomyopathy T wave inversion Disordered cell junctions Palpitations
signs of turner syndrome
Short stature, gonadal dysgenesis, puffy hands, neck webbing
signs of noonan syndrome
Neck webbing, sort stature, characteristic face, hidden of absence of one or both testes (cryptorchidism)
signs of 22q11 deletion syndrome
abnormal facies thymic hypoplasia Cleft palate Hypoparathyroidism renal Psychiatric – schizophrenic speech delay variable
signs of Williams syndrome
5th finger clinodactyly
characteristic face
Cocktail party manner
signs of foetal alcohol syndrome
Small eye openings smooth philtrum Thin upper lip small low intelligence
signs of marfans
Ectopia lentis (eye displacement) near sited Dural ectasia (ballooning of dural sac) respiratory, skin and skeletal problems ankle, reduced elbow extension, pectus deformity, scoliosis, thumb and wrist.
cause of noonan syndrome
PTPN11 mutation autosomal dominant
SOS1
