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Congenital and genetic defects Flashcards

1
Q

What can cause congenital heart diseases?

A

Causes are often unknown, they might include infections, certain drugs, genetic conditions

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2
Q

Give example of some main congenital malformations

A

coarctation of aorta, transposition of the main vessels, septal defects, valve defects

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3
Q

What are the two main types of genetic causes ?

A

Copy number variation, single gene disorders

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4
Q

Give example of chromosomal cases ?

A

Down syndrome, Turner’s syndrome

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5
Q

Give example of single gene causes ?

A

Marfan’s syndrome, Noonan, Fanconi, CHARGE group of disorders

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6
Q

Give some examples of teratogens

A

Rubella, alcohol, anti-epileptics, maternal diabetes mellitus

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7
Q

What are the causes of Down syndrome ?

A

Nondisjunction of maternal chromosome 21, transaction is more rare

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8
Q

What is the main cardiovascular congenital abnormality in Down syndrome ?

A

AV septal defects

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9
Q

What are the health problems associated with Down syndrome?

A

duodenal atresia (absence or failure of closure of lumen), intellectual disability, heart defects, hypothyroidism, celiac disease, eye conditions, respiratory infections, constipation, depression, behavioural problems such as ADHD, autism

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10
Q

What are the physical features of Down syndrome?

A

reduced muscle tone and floppiness, small nose and nasal bridge, small moth with protruding tongue, small ears, slanted eyes, flat back of head, broad hands with short fingers, short statue, show growth, wide neck

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11
Q

Describe the screening for Down syndrome

A

It involves measuring the nuchal translucency, it is increased compared to healthy babies, the bigger the higher risk of Down syndrome, it is also increased in other conditions such as DI George syndrome

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12
Q

What is cystic hygroma ?

A

Collection of fluid -filled sacs (cysts) that results from malformation of lymphatic system, it is also associated with congenital heart diseases

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13
Q

What Is Turner’s syndrome ?

A

Condition where one sex chromosome is missing, 45X, affects females only, they can be mosaic, some cells have full set of chromosomes, but very often it is XY rather than XX

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14
Q

What is the congenital malformation associated with Turner’s syndrome?

A

Coarctation of aorta

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15
Q

What other features are characteristic for Turner’s syndrome?

A

short statue, puffy hands, gonadal dysgenesis, infertility, neck webbing

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16
Q

In which syndromes is neck webbing present?

A

In Turner syndrome, Noonan syndrome, Leopard syndrome, CFC syndrome

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17
Q

What is Noonan syndrome?

A

Syndrome similar to Turner’s that affect both males and females, the most common mutation is in PRPN11 gene on chromosome 12

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18
Q

Where does the mutation occurs in Noonan syndrome?

A

AT chromosome 12, autosomal dominant, most commonly on gene PRPN11

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19
Q

What cardiac abnormality is associated with Noonan’s syndrome?

A

Pulmonary stenosis

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20
Q

What are the characteristic features of Noonan’s syndrome?

A

broad forehead, drooping eyelids, wider distance between eyes, short statue, pectus exavatum, neck webbing, crytochidism (absence of testes), male infertility can occur

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21
Q

What is CFC syndrome?

A

Cardio-facio-cutaneuos syndrome, it is Noonan like, but there are also ectodermal problems

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22
Q

What is Leopard syndrome?

A

Also Noonan like, but there are also multiple lentigines and deafness, abnormalities of genitalia, ocular hypertension

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23
Q

What is Costello syndrome?

A

Also Noonan like, but it also has thickened skin folds, susceptible to warts, increased chance of cancer later in life and cardiomyopathy

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24
Q

What syndromes are associated with pulmonary stenosis?

A

Noonan, Leopard, CFC, Costello

25
What syndrome is associated with cardiomyopathy ?
Costello syndrome
26
What is 22q11 deletion syndrome?
It is syndrome that occurs due to deletion of small section on chromosome 22 at position 11
27
What are the characteristic signs of the 22q11 deletion?
CATCH 22, cardiac malformations, abnormal facies, thyme hypoplasia, cleft palate, hypoparathyroidism, 22 q11 deletion, small moth, floppy and overfilled ears, long nose, gap in the roof of the mouth, also associated with psychotic disorders such as schizophrenia, depression, bipolar affective disorders, tetralogy of fallot
28
What other names have been used previously for this disorder ?
DiGeorge and velocardiofacial disorder
29
What cardiac malformation is associated with 22q11 deletion?
Tetralogy of fallot (ventricular septal defect, right ventricular outflow tract is enlarged, hypertrophy of right ventricle,aorta disposition)
30
What is William's syndrome?
Syndrome in which there is deletion of about 27 genes on chromosome 7, including gene coding for elastin
31
What cardiac features are present in William's syndrome?
Supravulvar aortic stenosis
32
What are other features characteristic of William syndrome?
hypercalcaemia, characteristic face, broad forehead, short nose, full checks, board mouth, lightly coloured eyes, cocktail party manner, intellectual disabilities, 5th finger clinodactyly
33
What is foetal alcohol syndrome?
Syndrome with mental and physical problems that arise if mothers drink more than 3-5 units of alcohol a week during pregnancy
34
What are the characteristic features of babies with foetal alcohol syndrome?
small head circumference, poor growth, small eyes, thin upper lip, smooth area between nose and upper lip, can have cerebral palsy, autism, learning difficulties, problems with kidneys, hearing, vision
35
What are the drugs that are commonly involved in anticonvulsant syndrome?
carbazepine, phenytoin, valprolate
36
Which cardiac defect is associated wit folate deficiency?
ventricular septal defect
37
Name the most commonly inherited cardiac conditions
cardiomyopathies hypertrophic and dilated, long QT syndrome, familial hypercholesterolaemia, arrhythmias, congenital heart defects, Marfans syndrome
38
What is the inheritance pattern of Marfans syndrome?
autosomal dominant, affects multiple systems
39
What are the typical signs of Marfan's syndrome ?
tall stature, abnormally long and slender limbs, fingers and toes, arachnodactyly, extopia lentis, lens subluxation, pectus carinatum
40
What cardiology signs are common in Marfans syndrome?
Aortic dissection or dilation, mitral valve prolapse
41
What criteria are used for Mrfan's syndrome diagnosis ?
Ghent 2010 criteria, need 2 positive system findings for diagnosis (CVS, eyes, systemic, gene mutation, family history )
42
What are the cardiovascular signs of Ghent criteria ?
Aortic dissection or dilation
43
What are the eye signs in Ghent criteria?
Ectopia lentis, upward dislocation of lens
44
What are the systemic signs in Ghent criteria?
scoioosis, kyphosis, pectus exavatum or carinatum, deformity of chest, foot, ankle, reduced elbow extension, thumb sign, wrist sign, protrusion of acceptable, striae, pneumothorax, dural equates, mitral valve prolapse, myopia
45
What acronym can be used to remember the signs of Marfans syndrome?
MARFANS Mitral prolapse, Aortic aneurysm or disection, Retinal detachment, Flexible joints and fibrillin 1 mutation, Arachnodactyly, No response to nitroprusside effect, Sublexation of lens and scoliosis
46
What investigations are done for Marfans syndrome?
ECG, ECHO, MRI, pelvic X ray, genetic test for fibrillin 1, opthamological examination
47
Name Marfan's like syndromes
MASS phenotype, Loeys -Dietz syndrome, Marfan's syndrome type 2, familial thoracic aortic aneurysm
48
What is the management of Marfan's syndrome?
Annual monitoring with ECHO, beta blockers, ARB inhibitors, prophylactic aortic surgery
49
What is long QT syndrome (Romano-Ward syndrome)?
Syndrome where myocytes take longer to recover than they should, due to channelopathies
50
What are the signs of long QT syndrome?
Syncope, seizures, sudden death, happens on emotional stress, exercise, drugs
51
What are the three types of T wave that can be present in long QT syndrome?
Normal/broad, notched and biphasic
52
What does precipitate broad T wave?
exercise particularly swimming
53
What does precipitate notched T wave?
Noise, arousal, telephone, alarm, ring
54
What does precipitate biphasic T waves ?
Sleep , bradycardia
55
Name the cardiac conditions that are heritable
Marfan's syndrome, long QT syndrome, Brugada syndrome, hypertorphic cardiomyopathy, dilated cardiomyopathy, arrhytmogenic right ventricular cardiomyopathy
56
What is Brugada syndrome?
Syndrome with abnormally rapid rhythm, can cause palpitations, seizures, can be fatal, there is RBBB, can cause episodic ventricular tachycardia or fibrillation, can be treated by beta blockers and implanted defibrillator
57
What is hypertrophic cardiomyopathy?
Enlargement of heart muscles due to mutations for sarcomere, can be mono allelic or diabolic, can cause sudden death especially if present and diagnosed from early age
58
What is arrhythmogenic right ventricular cardiomyopathy?
Condition where heart muscle is very thin and stretched, problems with proteins in the heart muscle with desmosomes, caused by mutation in one or more genes, it is autosomal dominant, leads to polymorphic tachycardia
59
What is dilated cardiomyopathy?
Condition of dilation of heart muscle, symptoms include syncope, pre-syncope, mutation in sarcomere or dystrophin genes

Cardiovascular system (18 decks)

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