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Peds Cards Boards > Genetics > Flashcards

Genetics Flashcards

1
Q

Rendu-Osler-Weber syndrome

A

AKA - Hereditary hemorrhagic telangiectasia
Autosomal dominant
Pulmonary AVMs (hepatic and cerebral AVMs as well)
Can present with stroke

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2
Q

Bland-White-Garland syndrome

A

Anomalous origins of the left coronary artery from the PA

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3
Q

Turner syndrome clinical associations

A
  • Short stature
  • Premature ovarian failure
  • Sensorineural hearing loss
  • Webbing of neck
  • Lower extremity edema
  • Downslanting palpebral fissures
  • Widely spaced nipples, shield chest
  • Madelung deformity of the wrist
  • Bicuspid aortic valve
  • Coarctation
  • PAPVR
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4
Q

Congenital rubella cardiac associations

A
  • Pulmonary artery stenosis
  • PDA
  • Tetralogy of Fallot
  • VSD
  • Coarctation (rare)
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5
Q

Hypertrophic cardiomyopathy inheritance pattern

A

Autosomal dominant

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6
Q

Down syndrome genetic mutation

A

Trisomy 21 translocation (3-4%), mosaicism (1%)

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7
Q

Low tone, upslanting palpebral fissures, advanced maternal age, brushfield spots, low nasal bridge, single palmar crease

A

Down syndrome

Complete AV canal, VSD, ASD, PDA, ToF

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8
Q

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

A

Trisomy 18 - Edward syndrome

Polyvalvar disease, VSD, ToF, pulmonary hypertension

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9
Q

Orofacial clefts, micropthalmia, postaxial polydactyly, holoprosencephaly

A

Trisomy 13 - Patau syndrome

ASD, VSD, DORV, pulmonary hypertension

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10
Q

Turner syndrome inheritance pattern

A

45X
De novo or X-linked

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11
Q

Interrupted aortic arch type B genetic association

A

DiGeorge

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12
Q

DiGeorge clinical features

A

Absent thymus
Hypocalcemia
Immunodeficiency
Cleft palate
Bulbous tip nose
Low set ears
Conotruncal defects (ToF, IAA-B, truncus) or aortic arch anomalies

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13
Q

DiGeorge genetic inheritance

A

22q11.2 microdeletion

De novo in 90%, can be autosomal dominant

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14
Q

Williams syndrome genetic mutation

A

7q11.23 microdeletion
De novo or Autosomal dominant

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15
Q

Supravalvar aortic stenosis, supravalvar pulmonary stenosis, short stature, hoarse voice, stellate irises

A

William syndrome

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16
Q

Cri du chat genetic mutation

A

5p deletion
De novo or autosomal dominant

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17
Q

Cat-like cry, PDA, VSD, microcephaly, low birthweight, micrognathia

A

Cri du chat

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18
Q

Jacobsen syndrome genetic mutation

A

11q-telomere deletion
De novo or autosomal dominant

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19
Q

Jacobsen sydrome clinical features and cardiac disease

A

VSD, LVOTO (MS/BAV, AS, Coarc), HLHS
Trigonocephaly, small low set ears, ptosis, epicanthal folds, broad nasal bridge, platelet dysfunction, immune deficiency, pyloric stenosis

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20
Q

1p36 deletion syndrome cardiac associaton

A

LVNC cardiomyopathy

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21
Q

CHARGE syndrome clinical features

A
  • Coloboma
  • Heart (conotruncal defects - ToF, DORV, IAA, AV canal, arch anomalies)
  • Atresia choanal
  • Retarded growth/development
  • Ear anomalies/deafness
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22
Q

CHARGE syndrome genetic mutation

A

CHD7 mutation
De novo/autosomal dominant

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23
Q

Alagille syndrome genetic mutation

A

JAG1 genet mutation
20p12 deletion
NOTCH2 gene

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24
Q

Peripheral pulmonic stenosis, triangular facies, butterfly vertebrae, hyperbili, cholestasis

A

Alagille syndrome

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25
Q

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

A

Holt Oram

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26
Q

Genetic mutation in Holt Oram

A

TBX5
De novo/Autosomal dominant

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27
Q

Genetic mutation in Noonan Syndrome

A

PTPN11, RAF1

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28
Q

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

A

Noonan syndrome

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29
Q

LEOPARD syndrome

A
  • Lentigines
  • ECG abnormalities (PR prolongation)
  • Ocular hepertelorism
  • Pulmonic valve stenosis
  • Abnormalities of genitalia
  • Retardation of growth
  • Deafness

Same gene as Noonan (PTNP11)

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30
Q

Cafe au lait spots, axillary/inguinal freckling, cutaneous neurofibromas Lisch nodules

A

Neurofibromatosis type 1

Risk for coarc or PS

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31
Q

Broad thumbs, intellectual disability, PDA, septal defects

A

Rubinstein-Taybi

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32
Q

Genetic mutation in Rubinstein-Taybi

A

CREBBP and EP300 mutation

De novo/autosomal dominant

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33
Q

Short stature, dental anomalies, polydactyly, common atrium, nail hypoplasia, neonatal teeth

A

Ellis van Creveld

Autosomal recessive (EVC and EVC2)

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34
Q

Growth deficiency, wide palpebral fissures, arched broad eyebrows, large ears, left sided lesions (HLHS)

A

Kabuki syndrome

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35
Q

Marfan syndrome genetic mutation

36
Q

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

A

Marfan syndrome

Indication to repair at > 45 mm dilated

37
Q

Loeys Dietz genetic mutations

A

TGFBR1, TGFBR2, SMAD2, SMAD3, TGFB2, TGFB3

38
Q

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

A

Loeys Dietz

39
Q

Ehlers Danlos genetic mutation

A

COL5A1, COL5A2, COL3A1

40
Q

Hypermobility and joint dislocations, thin skin, prominent veins, spontaneous arterial rupture, TV prolapse, MV prolapse, aortic root dilation

A

Ehlers Danlos

41
Q

Kartagener syndrome genetic inheritance

A

Autosomal recessive
32 gene mutations

42
Q

Dextrocardia, bronchiectasis, nasal polyps, situs inversus

A

Kartagener syndrome

43
Q

Cardiac rhabdomyoma, angiofibromas, hypomelanotic macules, shagreen patch, infantile spasms

A

Tuberous sclerosis
TSC1 and 2 (autosomal dominant)

44
Q

Carney complex clinical association

A

Atrial myxoma recuring within a family with skin and extracardiac tumors

45
Q

VACTERL clinical findings

A
  • Vertebral
  • Anal
  • Cardiac
    -TEF with esophageal atresia
    -Radial or renal dysplasia
  • Limb anomalies
46
Q

Duchenne muscular dystrophy genetic inheritance

A

DMD
Frame shift mutations

47
Q

Most common genes in HCM

A

MYH7 - autosomal dominant
MYBPC3 - autosomal dominant
TNNT2 - autosomal dominant
TNNI3 - autosomal dominant/recessive
TPM1 - autosomal dominant

48
Q

Early childhood, delayed motor milestones, difficulty climbing stairs, Gower sign, dilated cardimyopathy

A

Duchenne

Mean age of 14 for cardiomyopathy onset

49
Q

Friedreich ataxia genetic mutation

A

FXN
autosomal recessive

50
Q

HCM, affected siblings with unaffected parents, ataxia, absent lower extremity reflexes

A

Friedreich Ataxia

51
Q

MELAS cardiac manifestations

A

HCM, WPW, AV block

Lactiic acidosis and strokes

52
Q

Kearns-Sayre cardiac manifestation

A

Heart block - class 1 indication for pacemaker insertion

53
Q

Pompe disease cardiac association

A

Short PR, HCM, giant ECG voltages (infantile onset severe biventricular hypertrophy)

Most common glycogen storage disease to cause HCM

Tx with enzyme replacement

54
Q

Pompe disease genetic mutation

A

GAA
Autosomal recessive

55
Q

Hurler syndrome genetic mutation

A

IDUA - autosomal recessive

56
Q

Hurler syndrome cardiac manifestation

A

HCM
DCM
thickening and dysfunction of mitral and aortic valves
NO EYE INVOLVEMENT (difference between Hunter and Hurler)H

57
Q

Hunter syndrome genetic mutation

A

IDS
X-linked

58
Q

Genetic mutation in Gaucher disease

A

GBA
Autosomal reessive

59
Q

Clinical findings in Gaucher disease

A

Hepatosplenomegaly, anemia, HCM, thrombocytopenia, calcification of mitral and aortic valves

60
Q

Genetic mutation in Fabry disease

A

GLA
X linked

61
Q

Clinical findings in Fabry disease

A

Periodic pain crises, angiokeratomas, corneal clouiding, HCM

62
Q

Male, neutropenia, growth delay, DCM, LVNC

A

Barth syndrome
X linked

63
Q

Heart lesions associated with maternal PKU

A

Left sided lesions (coarc, HLHS), ToF and septal defects

64
Q

ASD, thumb or carpal bone defect genetic condition

A

Holt Oram
TBX5 mutation

65
Q

Lentigines, ECG changes (1st degree block), Ocular hypertelorism, Pulmonary stenosis, Abnormal genitals, Retarded growth, Deafness – genetic syndrome and defect

A

LEOPARD syndrome
Autosomal dominant PTPN11 or RAF1

66
Q

Complete heart block and ASD genetic defect

A

NKX2.5 location on 5q

67
Q

Genetic mutation that causes Kabuki syndrome

68
Q

Genetic conditions associated with PAPVR

A

Turner Syndrome and Noonan syndrome

69
Q

Triangular shaped face, broad forehead, deep set eyes with biliary atresia and pulmonary stenosis

A

Alagile syndrome

70
Q

Clinical features of Jacobsen syndrome

A
  • Wide spaced eyes
  • Ptosis
  • Small ears
  • Thrombocytopenia
  • VSD
  • Left sided lesions (mitral valve abnormalities)
71
Q

Cardiac defects with fetal retinoic exposure

A

Conotruncal defects

72
Q

Cardiac defect with Ellis van Creveld

73
Q

Arched eyebrows, broad thumbs, cryptorchidism, severe constipation, septal defects (PDA/ASD/VSD)

A

Rubinstein Taybi
CREBBP mutation

No succinylcholine

74
Q

Which two conditions can be tested for with chromosomal microarray

A

22q11
Williams

The majority of the other syndromes on boards are single gene disorders and not detected on CMA

75
Q

Two main autosomal recessive diseases tested on boards

A

Kartagener
Ellis van Creveld

The majority are autosomal dominant

76
Q

Elevated CK, DCM, skeletal muscle abnormalities

A

Test for DMD or Becker’s
Dystrophin gene abnormality

77
Q

Genes associated with DCM and high risk for sudden arrhythmia associated death

A

EMD
LMNA
DES

78
Q

Onset age < 20, pigmentary retinopathy, progressive external ophthalmoplegia, rapid progression to heart block

A

Kearns Sayre
Mitochondrial deletion syndrome
Class 1 indication for pacemaker

79
Q

Giant ECG voltages, HCM in infant

A

Pompe disease
Glycogen storage disease

80
Q

Bone pain, thrombocytopenia, HSM, calcification of mitral and aortic valves, oculomotor apraxia

A

Gaucher disease
Glucocerebrosidase deficiency

81
Q

Males with severe periodic extremity pain, corneal clouding, renal disease, mitral valve disease, HCM

A

Fabry disease
Alpha-galactosidase-A deficiency

82
Q

Infantile onset HCM

A

Noonan or RASopathy

83
Q

Most common heart disease associated with mucopolysaccharidosis

A

Mitral and aortic valve disease

84
Q

Long QT with sensorineural hearing loss

A

Jervell and Lange-Nielsen syndrome
- KCNQ1 gene mutation
- Autosomal recessive

85
Q

Marfan like features with intellectual disability

A

Homocystinuria – also at risk for thromboembolic effects

Diagnose with homocysteine levels

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