Congenital Heart Disease Flashcards
Name 2 chromosome abnormality diseases which can cause heart disease.
Downs syndrome - trisomy 21
Turners syndrome - 45 X
What gene causes Noonans syndrome?
PT PN11 gene
Name 4 conditions caused by PT PN11 gene which can causs heart disease.
Noonans syndrome
Cardio facio cutaneous CFC
Leopard syndrome
Costello syndrome
What condition causes coarctation of the aorta?
Turners syndrome
What conditions cause neck webbing?
Turners and noonan syndrome (plus 3 other conditions like noonan)
State the features of noonans syndrome.
Short stature Neck webbing Characteristic face Pulmonary stenosis Cryptorchidism
What are the features of CFC?
CFC- cardio facio cutaneous
Noonan like plus: ectodermal problems and developmental delay
What are the features of leopard syndrome?
Noonan like plus multiple lentigenes and deafness
Describe the features of costello syndrome.
Noonan like plus:
Thickened skin folds
Suscptible to warts
Cardiomyopathy
Name some teratogens which can can congenital heart disease.
Alcohol- fetal alcohol syndrome
Anti-epileptic drugs
Maternal diabetes mellitus
Rubella
Describe what the features of 22q11 deletion syndrome are.
Cardiac malformation Abnormal facies Thymic hypoplasia Cleft palate Hypoparathyroidism Renal abnormalities Psychiatric problems
Describe 2 severities of the 22q 11 deletion syndrome.
Di george syndrome is a severe version
Sphringzen (velocardilofacial) is a mild version
What is williams syndrome due to?
Deletion of elastin on chromosome 7
describe features of williams syndrome.
aortic stenosis (supravalsalvar) - mild version of coarctation hypercalcaemia 5th finger clinodactyly characteristic face cocktail part manner
name a syndrome which is due to ion channelopathy.
familial arrythmias such as : long QT syndrome Jervell lange-neilson syndrome brugadas syndrome
what are the signs/symptoms of long QT syndrome/ Romano ward syndrome?
syncope
seizure
sudden death
emotion , exercise and drugs can trigger it
describe the features of brugada syndrome.
QT normal
ST elevation V1-3
episodic VT / VF
what cardiac malformation can people with downs syndrome have?
15% have atrio-ventricular septal defects
what test can be carried out to detect cardiac malformations in a foetus?
nachal translucecy
In an ultrasound scan, what is a foetus with Congenital Heart Defect identified with?
cystic hygroma
what cardiac malformation does 22q11 deletion syndrome cause?
outflow tract cardiac malformation
what is ventricular septal defect (VSD) associated with?
folate deficiency
What are the characteristics of marfans syndrome?
tall stature pectus carnatum (chest comes out at an ridge) arachnodactyly ectopia lentis aortic root dilatation
what is the criteria for the diagnosis of marfans syndrome?
2 system characteristics must be positive;
Cardiovascular i.e. aortic dilatation/dissection
Eyes i.e. ectopia lentis
Systemis score (>7) i.e. skeletal, skin, rest, dural ectasia, mitral valve prolapse, myopia
Family history
Fibrillin 1 mutation
what test is mandatory for diagnosis of marfans syndrome?
Echocardiography
do MRI and/or pelvic X-ray where diagnosis would change if positive
how is Marfans managed?
annual clinical review (ECHO)
beta blockers
angiotensin II receptor blockers
prophylactic aortic surgery is sinus valasalvar exceeds 5.5cm
what is advantage and disadvantage of getting a mechanical valve for aortic root surgery for marfans syndrome?
last longer than valve sparing procedure
need life long warfarin
what is the advantage and disadvantage of valve sparing aortic root surgery for marfans syndrome?
no need for warfarin
may need re-operation
in people with mutation KCNQ1 , what precipitates arrhythmias?
exercise, particularly swimming
in people with KCNH2 mutation, what precipitates arrhythmias?
noise/arousal e.g. telephone ringing, alarm clock
in people with SCN5A mutation, what does does it show on ECG?
biphasic T wave
where is the site of dysfunction in hypertrophic cardiomyopathy? and dilated cardiomyopathy?
HCM = sarcomere DCM = cytoskeleton
In people with SCN5A gene, what precipitates arrhythmias?
Sleep/ bradycardia
In people with the KCNQ1 gene, what does it show on ECG?
Normal/broad T-wave
In people with the KCNH2 gene, what does it show on ECG?
Notched T-wave
What cardiac problem does Marfan cause?
Aortic root dilatation/dissection
Mitral valve prolapse
What are the 3 Marfan like syndromes?
Familial thoracic aortic aneurysms
Loeys Dietz syndrome
MASS phenotype
What are features of MASS phenotype?
Myopia
Mitral valve prolapse
Mild aortic root dilatation
Why would a lumbar MRI be performed on diagnosing Marfan?
To identify if there is Dural ectasia which is a feature on the Ghent criteria for diagnosing Marfans
what congenital condition causes aortic stenosis?
Wiliams syndrome
what congenital condition causes AV septal defect?
Down syndrome
what cardiac problems does marfans cause?
aortic dilatation/dissection
mitral valve prolapse
what maternal infection can cause congenital malformations in the child?
Rubella
