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cardiology testing 123 > Genetics > Flashcards

Genetics Flashcards

1
Q

what does L 4th arch turn into

A

true aortic arch

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2
Q

what does L 6th arch turn into

A

ductus

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3
Q

what does 3rd arch turn into

A

carotid

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4
Q

RAA w/ mirror imaging branch, is it a vasc ring?

A
  1. Most people with a right aortic arch and mirror image branching have a left sided ductus (which connects to the innominate artery) this is NOT a vascular ring
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5
Q

aberrant L subclav, what kind of arch does it have?

A
  1. An aberrant right subclavian artery ONLY has a left arch
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6
Q

RAA with anomalous L subclav, is it a vasc ring?

A
  1. A right aortic arch with an anomalous left subclavian artery is NOT on its own a vascular ring (depends what side the Ductus is on)
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7
Q

which side is the arch with a retroesophageal subclavian artery?

A
  1. Retroesophageal and isolated subclavian arteries are ALWAYS on the opposite side of the arch
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8
Q

when is a diverticulum of kommerel a vascular ring?

A
  1. A diverticulum (ie Komerrell), Dimple or Descending aorta on the OPPOSITE side of the arch is ALWAYS a vascular ring (either from an atretic double arch or a ligamentum)
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9
Q

whys is a diverticulum of kommerrell large?

A
  1. Diverticulum of kommerel is larger because of ductal flow in utero
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10
Q

which side will a Tet’s absent or isolated branch PA be?

A
  1. If a patient with TOF has an absent branch pulmonary artery, it’s usually the one on the opposite side of the arch, the reverse is true for truncus arteriosus
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11
Q

MC vascular rings

A

85-95% are either 1) Double aortic arch 2) Right arch with aberrant left subclavian (with a left ductus)

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12
Q

which arch is bigger in a double aortic arch, usually?>

A

R>L, Right more cranial

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13
Q

what is a key echo finding to dx double aortic arch

A

4 discrete and symmetric origins of head/neck vessels => key for identifying double arch (look at suprasternal short)

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14
Q

MC cyanotic CHD (5th MC overall CHD)

A

tTOF

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15
Q

what % of TOF is tet/PA

A

20% tet/PA

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16
Q

what % of tet’s are tet, absent PV? correlation with 22q11?

A

2.5% of tets, 75% association with 22q11

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17
Q

Seminal event in development in TOF

A

Anterior deviation of conal septum

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18
Q

type of VSD in TOF? In tet/canal?

A

Outlet perimembranous, may have inlet extention in tet/canal

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19
Q

what rastelli is a tet/canal?

A

rastelli C usually

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20
Q

Associated anomalies in TOF?

A

“RAA (25%)
Partial veins
Coronary abnormalities (LAD off RMC 5%)
Systemic venous: Retroaortic innominate, LSVC
ASD (80%) **
12% chromosomal anomolies (T21, T18, T13)”

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21
Q

define PAH

A

mPAP>25, PAWP <15, PVRI >3

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22
Q

define IPAH

A

PAH with no underlying diagnosis, HPAH is when there is a positive family history for IPAH

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23
Q

5 WHO pulm HTN classifications

A

1) PAH 2) left heart disease 3) lung disease, hypoxia 4) chronic thromboembolic 5) multifactorial mechanisms
1 = idiopathic (I) 2 =2/2 left, 3=lung 4 = clots into all 4 corners 5 = multi

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24
Q

what % digeorge has CHD? What is MC? What are all of them?

A

40%, IAA type B in 50-89%, VSD almost always with arch anmaly, truncus 34041, TOF 8-35%, isolated arch 24%

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25
Q

williams-beuren syndrome, mechanism, type of facies

A

7q11.23 elastin, AD, de novo, elfin facies

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26
Q

williams-beuren syndrome, % CHD? Type?

A

80% CHD, 50% supravalvar aortic stenosis that is PROGRESSIVE, supravalvar/branch PA stenosis is REGRESSIVE, arteriopathy, HTN, HCM

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27
Q

aligille clinical features

A

AD, 30-50% inherited, cholestasis, CV anomalies, skeletal, ocular anomalies

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28
Q

% CHD in allagille syndrome?

A

PPS 50-60%, TOF 10%, valvar PS, ASD, VSD, coarctation

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29
Q

% CHD in Noonan?

A

80-90%, valver PS, HCM, ASD, AVSD, mitral thickening, coarcation, TOF

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30
Q

LEOPARD syndrome findings

A 
Lentigines, 
ECG (BBB, CAVB), 
ocular hypertelorism, 
Pulmonic stenosis, 
Abnormal genitalia, 
Retardation of Growth, 
Deafness
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31
Q

Noonans appearance with heart block and deafness?

A

LEOPARD syndrome (Heart block, sensory block leading to deafness

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32
Q

holt oram %CHD?

A

75%: ASD with common atrium, AV conduction disease, sinus node dysfunction, risk of A fib

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33
Q

CHD in Trisomy 13?

A

80%, VSD/ASD/PDA (shunts), dextrocardia (think midline), polyvalvular dysplasia (bicupid semilunar and stenotic AVV

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34
Q

% CHD in trsomy 18?

A

90%, malaligned VSD, polyvalvular disease x 4 valves, coarctation, PDA

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35
Q

CHD % in turners

A

40-45%, BAV in 15%, coarc in 5-10%, PAPVR, isolated aortic root dilation with 1–2% risk of dissection

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36
Q

% cardiac defect in trisomy 21?

A

40-50%, CAVC 45%, VSD 35%, association with TOF/AVC, PDA

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37
Q

JAG1

A

Alagilee syndrome (alligators have jagged teeth), also Notch2

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38
Q

NOTCH2

A

alagille syndrome, (alligators have 2 notches in the scales), JAG1 (and jagged teeth)

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39
Q

PTPN11

A

noonan syndrome (order your Peripheral TPN by NOON), but may also have Leopard dyndrome

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40
Q

PTPN11 positive noonan syndrome will more likely have which cardiac diagnosis?

A

PS&raquo_space; HCM

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41
Q

TBX5

A

Holt oram (heart hand) 5 fingers

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42
Q

RBM8A

A

thrombocytopenia absent radii (TAR) syndrome, TOF, ASD, VSD

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43
Q

% CHD in thrombocytopenia absent radii?

A

20-30%: TOF, ASD< VSD

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44
Q

% CHD in primary ciliary dyskinesia

A

10% heterotaxy

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45
Q

$ CHD in kartagener syndrome?

A

no significant risk

46
Q

CHD found in Barth syndrome

A

X linked, cardiomyopathy, usuall dilated/hypertrophic CM&raquo_space; LV concompaction

47
Q

ellis-van crevald syndrome, $% CHD

A

autosomal recessive, think of amish, CHD > 50%, MC ASD (common atrium), limb issues and natal teeth

48
Q

VACTRL CHD%?

A

40-80%: ASD< VSD, TOF

49
Q

CHARGE ASSOCIATION % CHD?

A

75%, TOF, PDA, ASD, VSD, PS, DORV

50
Q

EVC/EVC2

A

ellis-van crevald (think amish, ASD, limb anomalies

51
Q

FBN1

A

Marfan (fibrillin gene)

52
Q

chromosome 15

A

marfan, fibrillin gene on FBN1 (think of a gawky 15 y/o)

53
Q

% cardiac defect in Marfan?

A

30-60%, major cause of dec life expectancy, MC MV prolapse, at risk fo aortic dissection/aneurysms (replace at >5-6cm

54
Q

Loeys-Dietz

A

triad of arterial tortuosity, aneurysms, bifid uvula, cleft palate, replace Ao root at >4-4.5 cm

55
Q

NKX2.5

A

gene associated with ASD and AV node development (Nick’s conduction)

56
Q

gene associaated with AV node development

A

NKX2.5 (Nick’s conduction)

57
Q

CHD in TS?

A

cardiac rhabdomyomas present at birth, not malignant, regress at 3-5 years: symptomatic with arrytmia (WPW, AET, VT) or outflow obstruction

58
Q

TSC1

A

tuberous sclerosis (Hamartin) 1 hammers the 2 tube (2ube)

59
Q

TSC2

A

tuberous sclerosis (tuberin) 1 hammers the 2 tube (2ube)

60
Q

How often to get echos in muscular dystrophy?

A

at diagnosis, Q2years after, Q1Year after age of 10

61
Q

supravalvar AS associated with which mutations?

A

elastin, auto dominant

62
Q

left sided obstructive lesions associated with which gender?

A

male

63
Q

2 diases where FISH is useful?

A

22q11, williams

64
Q

greek warrior helmet?

A

wolf-hirschhorn syndrome, 4p deletion

65
Q

4p deletion

A

wolf hirschhorn syndrome (greek warrior, 4p = alexander went to the 4 corners)

66
Q

% CHD in wolf hirschhorn

A

CHD in 50%: ASD/VSD/PS

67
Q

% CHD in rubinstein-Taybi?

A

30-40%: usually single defect, ASD, VSD, PDA, CoA, PS, BAV

68
Q

16 p deletion

A

rubinstein-Taybi

30-40%: usually single defect, ASD, VSD, PDA, CoA, PS, BAV

69
Q

5p deletion

A

cri-du-chat

ASD, VSD, 50% CHD

70
Q

% CHD in cri-du-chat

A

ASD, VSD, 50% CHD

71
Q

arial physiology normal: a,c,v,x,y

A

Atrial contraction, rv Contraction, atrial relaXation, Venous filling, atrial emptYing

72
Q

atrial physiology, TR

A

high Venous filling wave

blood shoots back into RA from RV causing inc atrial pressure during normal venous filling

73
Q

atrial physiology, constrictive pericarditis

A

high A and V waves roughly equal

RA constricted, atrial contraction and venous filling of a noncompliant chamber are equal

74
Q

key feature of normal force velocity relationship

A

shortens more rapidly with lighterl load

inverse relationship between afterload (force) and shortening velocity

75
Q

how to improve theforce frequency relationship

A

increase preload increase inotrophy gives a higher shortening velocity for a given afterload

76
Q

what is arterial elastance? How is it measured?

A

pressure/volume = ESP / SV = on a P-V loop the slope of line between EDP and ESP = reciprocal of compliance and is NOT afterload

dec SV or increase ESP is a marker of increased elastance and decreased compliance

77
Q

what is the length tension relationship?

A

increased preload causes increased active tension

increased # of myosin cross bridges when you reach the intermediate length with maximum overlap

78
Q

how does the RV PV loop differ in the RV and LV

A

LV is arectangular, RV is triangular where there is very little isovolumetric contraction and the pressure gradually increases during contraction

79
Q

what is potential energy in a PV loop?

A

elastance defined potential work = area under curve of a triangular wedge to the left of the PV loop from the origin

increased by increased End systolic pressure, or end systolic volume (Ao Stenosis, chronic heart failure w/ volume overload)

80
Q

what is the ASD shunt direction in TGA?

A

systole (atrial compliance) L>R; diastole (ventricualr compliance) R->L

81
Q

D-TGA with reverse diff cyanosis, walk through it from the LA

A

oxygenated blood LA-> LV->PA bypass lungs via PDA and increased oxygenation to lower body (not really desating of the upper ext)

82
Q

what si the Q effective P and S in TGA?

A

Q effective is basically the flow across the ASD when that is all there is ; the anatomic L -> R and R_> L shunts

83
Q

how does the MC prolapse murmur change with maneuvers?

A

sudden standing -> decreased preload -> earlier (less LV volume) ;; squating –> inc preload -> later click (more LV volume)

84
Q

how do you distinguish murmur of AS vs HOCM?

A

manuevers: dec preload with valsalva/standing worsens HOCM;; inc preload with squatting worsens AS and improves HOCM

85
Q

gene mutations in HLHS

A

NOTCH1, NKX2 (not NKX2.5)

don’t confuse NOTCH 2 = alligille, NKX2.5 = ASD/conduction

86
Q

embryo days 1-22, 23-29, 30

A

1-22 nada; 23 heart tube; 30 blood circulates

87
Q

3 parts of bulbus cordis

A

proximal = trabeculated part of RV; mid = conus cordis = outflow tracts ; distal = truncus arteriosus = aortic/pulmonary arteries

88
Q

when to the embryologic septae form?

A

days 27-37 (seven septum)

89
Q

which leaflets are formed by the superior and inferior cushions?

A

anterior mitral, septal tricuspid

90
Q

what does the inferior endocardial cusion contribute to?

A

atrial side = primum atrial septum, ventricular side, membranous V septum, valve = parts of septal TV and antior MV

91
Q

what forms the membranous septum?

A

inf EC cushion, and muscular septum

92
Q

what forms the conotruncal septum?

A

conus cordus cusions (outflow tract portion of bulbus cordis), fusion of conotruncal septum (AP window), and fusion between these 2 fusions

93
Q

where do semilunar valves come from?

A

truncal cushions

94
Q

3 things that form the atrial septm

A

primum, secundum, EC cusion (inferior)

95
Q

fossa ovalis, what forms the valve and what forms the rim?

A

primum forms the valve (thin and mobile) located on the left, secundum forms the rim, more rigid, located on the righ

96
Q

how does the primum septum form

A

goes from suprior to inferior, meets with niferior ECC to close “septum primum”, fenstrations within form the septum secundum

97
Q

how dos the septum secundum form

A

from the anterior and superior aspect, forms a falx and opening directed toward the IVC

98
Q

usual absolute cutoff for HCM

A

LV thickness of 14

99
Q

which PV is closely associated with the descending aorta

A

LLPV

100
Q

coronaries to watch out for in TOF

A

prominent conal branch of accessory LAD (off the rRCA and crossing over)

101
Q

recurrence risk of HLHS

A

8%

102
Q

common features of mutation in ENG

A

HHT gene: pulmonary AVMs, epistaxis, GI bleeding, stroke (bleeding, ENG =engineering school causes this too)

103
Q

HHT gene

A

ENG (endoglin is an angiogenesis thing) Engineering

104
Q

endoglin

A

HHT disease (ENG is the gene)

105
Q

deletion 4p16

A

Wolf Hirschhorn

106
Q

primary gene for Noonans

A

PTPN11

107
Q

PTPN11

A

primary gene for Noonans

108
Q

RAF1 mutation

A

DCM (dilated turtle shell Rafael)

109
Q

DCM gene

A

RAF1 (dilated turtle shell - Rafael)

110
Q

Mowat Wilson syndrome association

A

LPA sling

111
Q

LPA sling association with a syndrome

A

Mowat Wilson syndrome

cardiology testing 123 (10 decks)

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