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Board Prep > Genetics > Flashcards

Genetics Flashcards

1
Q

PKP2 genetic mutation is associated with..

A

Arrythmogenic cardiomyopathy (ARVC)

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2
Q

Most common inheritance pattern of dilated CM

A

Autosomal dominant

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3
Q

What is Barth Syndrome?
- Inheritance pattern
- Findings

A

Inheritance- X linked recessive, mutation in TAZ gene
Findings: Dilated CM or non-compaction CM
Other findings: Hypotonia, short stature, proximal muscle weakness, neutropenia, abnroaml 3-methylglutaconic aciduria

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4
Q

What two genes account for 75% of familial sarcomeric HCM?

A

MHY7 and MYBPC3

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5
Q

Most common RASopathy associated with HCM

A

Noonan syndrome

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6
Q

Beside HCM, what other CHD can patients with Noonan syndrome develop?

A

Pulmonic stenosis

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7
Q

Name 3 genes that are associated with RASopathies

A

PTPN11
RAF1
RIT1

Can think of Josh saying “quit it with the rit raf!!”

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8
Q

Most common mutation associated with Noonan

A

PTPN11

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9
Q

Most common gene mutation associated with inherited DCM

A

TTN (5-25%)

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10
Q

Inheritance pattern of dystrophinopathies

A

Mostly X linked

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11
Q

Describe the etiology of the different presentations of Duchenne vs Becker DCM

A

Duchenne: absence of the dystrophin gene
Becker: some dystrophin gene, short and partial function

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12
Q

Emery-Dreifuss MD: What genes are associated?

A

EMD and FHL-1 (x linked)
LMNA (AR and AD)

Proteins involved in the nuclear membrane of the myocytes

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13
Q

What clinical features are present with Emery-Driefuss MD?

A

Cardiac: DCM > HCM, conduction abnormalities and arrhythmia
Non-cardiac: Contractures and progressive weakness/wasting

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14
Q

Gene associated with increased risk of SCD in patients with Limb-Girdle MD?

A

DES mutations

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15
Q

What three genes in muscular dystrophies are associated with increased arrhythmia risk?

A

EMD, LMNA, and DES

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16
Q

What are the clinical findings of 1p36 deletion syndrome?

A

Small head, deep eyes, straight eyebrows, midface hypoplasia, developmental delay

+ DCM, LVNC and a slew of other CHD - ASD. VSD, PDA, PS, BAV, etc.

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17
Q

What two syndromes are associated with LV non compaction CM?

A

Barth’s (also DCM)
1p36 microdeletion (also DCM)

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18
Q

What is the inheritance pattern of most inborn errors of metabolism?

A

AR

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19
Q

Name two mitochondrial inborn errors of metabolism

A

MELAS : Mitochondiral encephalopathy, lactic acidosis and stroke
Kearns-Sayre: Cranial and opthalmologic

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20
Q

What is the clinical presentation of Kearns Sayre?

A

(mitochondrial deletion)
Age < 20
Progressive opthalmoplegia
Pigmentary retinopathy
Progressive heart block 2/2 degeneration of the conduction system

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21
Q

What is a common presentation of a fatty acid oxidation defect and what is an example?

A

Acute decompensation after fasting
Hypoglycemia, metabolism acidosis, hyperammonia, abnormal acyl carnitine profile

Example: CPT2

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22
Q

Pompe disease: What is the official name? What gene is involved?

A

Official name: glycogen storage disease II
Gene involved: GAA

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23
Q

Dannon disease: What gene is involved? How can you differentiate clinically from Pompe?

A

LAMP2
Will have normal values of alpha acid gluconidase levels

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24
Q

Why. is the PR interval important in pompe?

A

Progressive accumulation of glycogen in the conduction system > increased PR > increased risk of SCD

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25
Q

Name 2 lipid storage diseases associated with CM

A

Gaucher and Fabry

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26
Q

Describe the cardiovascular subtype of gaucher

A

glucocerebrosidase deficiency

Calcification of mitral and aortic valve
mutation in GBA

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27
Q

Describe clinical manifestations of Fabry

A

x-linked, GLA mutation
Severe extremity pain
Corneal involvement
Renal failure
Conduction abnormalities + HCM

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28
Q

Name the syndrome: coarse facial features, short, severe HSM, thickened leaflets resulting in regurg

A

mucopolysaccharide storage dx

Hurler (AR) and hunter (X linked)
Hunter does not have corneal clouding

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29
Q

CAVC, low tone,
upslanting palpebral
fissures, advanced
maternal age

A

T21

30
Q

Polyvalvar disease,
clenched hands with
overlapping fingers,
nail hypoplasia, low
set ears, small mouth

A

Edward syndrome (T18)

31
Q

Orofacial clefts,
microphthalmia/anoph
thalmia, postaxial
polydactyly,
holoproscencephaly

A

Trisomy 13 (Patau)

32
Q

Inheritance pattern of the Trisomies

A

AD although the VAST majority are denovo mutations

33
Q

Female with short stature, left-sided lesions

A

Turner syndrome

34
Q

What cardiac lesions are seen with Turner syndrome?

A

Left-sided lesions
- CoA
- BAV/AS
- HLHS
- mitral valve prolapse
- aortic root dilation/dissection

Pulmonary vein anomalies
Prolonged QTc

35
Q

Interrupted aortic arch type B, conotruncal
defects, absent thymus, hypocalcemia

A

DiGeorge (22q11)

36
Q

Supravalvar aortic stenosis, stellate
irises, short stature, hoarse voice, unique cognitive profile

A

Williams syndrome

37
Q

Cardiac lesions seen in Williams syndrome

A

Supravalvar AS
Supravalvar PS
Peripheral pulmonary artery stenosis
Arteriopathy

38
Q

Syndrome with HLHS

A

Jacobsen syndrome

39
Q

What is the best genetic testing for STRUCTURAL VARIATION / COPY NUMBER VARIATION / MICRODELETION SYNDROMES

A

Chromosomal microarray

40
Q

Cutis aplasia
Syndrome with HLHS

A

Adams Oliver syndrome

41
Q

What is the best genetic testing for SINGLE GENE DISORDERS?

A

Gene sequencing - either targeted or whole genome

42
Q

PPS, triangular faces, butterfly vertebrae, cholestasis

A

Alagille syndrome

43
Q

What gene is mutated in Alagille syndrome?

A

JAG1

44
Q

Short stature, developmental delay,
ear anomalies, coloboma, tetralogy of
Fallot

A

CHARGE syndrome

45
Q

What gene is mutated in CHARGE syndrome?

A

CHD7

46
Q

Synophrys
Long curled eyelashes
VSD, ASD, PS

A

Cornelia De Lange syndrome

47
Q

Short stature, dental anomalies,
polydactyly, common atrium

A

Ellis van Creveld (EVC mutations, AR)

48
Q

Upper extremity anomaly, absent
thumb, common atrium, heart block,
affected parent

A

Holt Oram

49
Q

What cardiac finding needs to be monitored in Holt Oram disease?

A

Progressive heart block

50
Q

What gene is mutated in Holt Oram disease?

A

TBX5

51
Q

Wide palpebral fissures with
eversion of the lateral third of
the lower eyelid
Arched, broad eyebrows, left sided lesions

A

Kabuki syndrome

52
Q

What cardiac lesions can you see with Kabuki syndrome?

A

LSL: CoA, BAV, HLHS
VSD
TOF
TGA

53
Q

Broad thumbs, “grimacing” smile
Intellectual disability PDA or septal fect

A

Rubinstein-Taybi

54
Q

Pulmonic stenosis
(thick/dysplastic
valve), HCM, short
stature, neck
webbing, pectus, low
set ears

A

Noonan

55
Q

Short stature, loose skin, multifocal atrial
tachycardia

A

Costello syndrome

56
Q

Multiple café au lait spots, axillary and inguinal freckling, Cutaneous neurofibromas
Iris Lisch nodues, CoA, PS

A

Neurofibromatosis 1

(no intracardiac masses)

57
Q

Gene mutation in Marfans

A

FBN1 (AD)

58
Q

Tall thin habitus with long armspan,
scoliosis, thick glasses, pectus, aortic
root dilation, mitral valve prolapse,
ectopia lentis

A

Marfan

59
Q

Gene mutations (2) in Loeys Dietz

A

TGFBR1
TGFBR2

60
Q

Arterial aneurysms, tortuosity, aortic root
dilation, widely spaced eyes, bifid
uvula, pectus, BAV, PDA, club foot

A

Loeys-Dietz

61
Q

Marfan’s appearance, Crumpled ears, joint
contractures at birth, scoliosis, aortic root
dilation

A

Congenital Contractural
Arachnodactyly (Beals)- FBN2

62
Q

TV prolapse, MV prolapse
AoR dilation (not
progressive) Arterial rupture (very
rare)

A

EDS classic

63
Q

What gene is involved in Ehler Danlos?

A

COL

64
Q

Dextrocardia, bronchiectasis, nasal
polyps

A

Kartagener, Primary ciliary dyskinesia

65
Q

Inheritance of Kartagner’s disease

A

AR

66
Q

Cardiac rhabdomyoma, skin
findings, infantile
spasms

A

Tuberous Sclerosis

67
Q

Williams syndrome has a mutation in what chromosome?

A

7q11

68
Q

Cru-de-chat syndrome is caused by what?

A

Deletion on chromosome 5
5p- syndrome

69
Q

What trisomy has the highest rate of CHD?

A

T18 - 95% chance of CHD

70
Q

What connective tissue diseases has the risk of aortic dissection?

A

Marfans and LD
ED does not

71
Q

What condition can appear like Marfans but is associated with intellectual delay?

A

Autosomal recessive homocystienuria

72
Q

What cardiac lesions is maternal PKU associated with?

A

Primarily left sided lesions - HLHS, coarctation

Board Prep (16 decks)

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