1
Q
what does L 4th arch turn into
A
true aortic arch
2
Q
what does L 6th arch turn into
A
ductus
3
Q
what does 3rd arch turn into
A
carotid
4
Q
RAA w/ mirror imaging branch, is it a vasc ring?
A
- 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
5
Q
aberrant L subclav, what kind of arch does it have?
A
- An aberrant right subclavian artery ONLY has a left arch
6
Q
RAA with anomalous L subclav, is it a vasc ring?
A
- 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)
7
Q
which side is the arch with a retroesophageal subclavian artery?
A
- Retroesophageal and isolated subclavian arteries are ALWAYS on the opposite side of the arch
8
Q
when is a diverticulum of kommerel a vascular ring?
A
- 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)
9
Q
whys is a diverticulum of kommerrell large?
A
- Diverticulum of kommerel is larger because of ductal flow in utero
10
Q
which side will a Tet’s absent or isolated branch PA be?
A
- 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
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)
12
Q
which arch is bigger in a double aortic arch, usually?>
A
R>L, Right more cranial
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)
14
Q
MC cyanotic CHD (5th MC overall CHD)
A
tTOF
15
Q
what % of TOF is tet/PA
A
20% tet/PA
16
Q
what % of tet’s are tet, absent PV? correlation with 22q11?
A
2.5% of tets, 75% association with 22q11
17
Q
Seminal event in development in TOF
A
Anterior deviation of conal septum
18
Q
type of VSD in TOF? In tet/canal?
A
Outlet perimembranous, may have inlet extention in tet/canal
19
Q
what rastelli is a tet/canal?
A
rastelli C usually
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)”
21
Q
define PAH
A
mPAP>25, PAWP <15, PVRI >3
22
Q
define IPAH
A
PAH with no underlying diagnosis, HPAH is when there is a positive family history for IPAH
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
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%
25
williams-beuren syndrome, mechanism, type of facies
7q11.23 elastin, AD, de novo, elfin facies
26
williams-beuren syndrome, % CHD? Type?
80% CHD, 50% supravalvar aortic stenosis that is PROGRESSIVE, supravalvar/branch PA stenosis is REGRESSIVE, arteriopathy, HTN, HCM
27
aligille clinical features
AD, 30-50% inherited, cholestasis, CV anomalies, skeletal, ocular anomalies
28
% CHD in allagille syndrome?
PPS 50-60%, TOF 10%, valvar PS, ASD, VSD, coarctation
29
% CHD in Noonan?
80-90%, valver PS, HCM, ASD, AVSD, mitral thickening, coarcation, TOF
30
LEOPARD syndrome findings
```
Lentigines,
ECG (BBB, CAVB),
ocular hypertelorism,
Pulmonic stenosis,
Abnormal genitalia,
Retardation of Growth,
Deafness
```
31
Noonans appearance with heart block and deafness?
LEOPARD syndrome (Heart block, sensory block leading to deafness
32
holt oram %CHD?
75%: ASD with common atrium, AV conduction disease, sinus node dysfunction, risk of A fib
33
CHD in Trisomy 13?
80%, VSD/ASD/PDA (shunts), dextrocardia (think midline), polyvalvular dysplasia (bicupid semilunar and stenotic AVV
34
% CHD in trsomy 18?
90%, malaligned VSD, polyvalvular disease x 4 valves, coarctation, PDA
35
CHD % in turners
40-45%, BAV in 15%, coarc in 5-10%, PAPVR, isolated aortic root dilation with 1--2% risk of dissection
36
% cardiac defect in trisomy 21?
40-50%, CAVC 45%, VSD 35%, association with TOF/AVC, PDA
37
JAG1
Alagilee syndrome (alligators have jagged teeth), also Notch2
38
NOTCH2
alagille syndrome, (alligators have 2 notches in the scales), JAG1 (and jagged teeth)
39
PTPN11
noonan syndrome (order your Peripheral TPN by NOON), but may also have Leopard dyndrome
40
PTPN11 positive noonan syndrome will more likely have which cardiac diagnosis?
PS >> HCM
41
TBX5
Holt oram (heart hand) 5 fingers
42
RBM8A
thrombocytopenia absent radii (TAR) syndrome, TOF, ASD, VSD
43
% CHD in thrombocytopenia absent radii?
20-30%: TOF, ASD< VSD
44
% CHD in primary ciliary dyskinesia
10% heterotaxy
45
$ CHD in kartagener syndrome?
no significant risk
46
CHD found in Barth syndrome
X linked, cardiomyopathy, usuall dilated/hypertrophic CM >> LV concompaction
47
ellis-van crevald syndrome, $% CHD
autosomal recessive, think of amish, CHD > 50%, MC ASD (common atrium), limb issues and natal teeth
48
VACTRL CHD%?
40-80%: ASD< VSD, TOF
49
CHARGE ASSOCIATION % CHD?
75%, TOF, PDA, ASD, VSD, PS, DORV
50
EVC/EVC2
ellis-van crevald (think amish, ASD, limb anomalies
51
FBN1
Marfan (fibrillin gene)
52
chromosome 15
marfan, fibrillin gene on FBN1 (think of a gawky 15 y/o)
53
% cardiac defect in Marfan?
30-60%, major cause of dec life expectancy, MC MV prolapse, at risk fo aortic dissection/aneurysms (replace at >5-6cm
54
Loeys-Dietz
triad of arterial tortuosity, aneurysms, bifid uvula, cleft palate, replace Ao root at >4-4.5 cm
55
NKX2.5
gene associated with ASD and AV node development (Nick's conduction)
56
gene associaated with AV node development
NKX2.5 (Nick's conduction)
57
CHD in TS?
cardiac rhabdomyomas present at birth, not malignant, regress at 3-5 years: symptomatic with arrytmia (WPW, AET, VT) or outflow obstruction
58
TSC1
tuberous sclerosis (Hamartin) 1 hammers the 2 tube (2ube)
59
TSC2
tuberous sclerosis (tuberin) 1 hammers the 2 tube (2ube)
60
How often to get echos in muscular dystrophy?
at diagnosis, Q2years after, Q1Year after age of 10
61
supravalvar AS associated with which mutations?
elastin, auto dominant
62
left sided obstructive lesions associated with which gender?
male
63
2 diases where FISH is useful?
22q11, williams
64
greek warrior helmet?
wolf-hirschhorn syndrome, 4p deletion
65
4p deletion
wolf hirschhorn syndrome (greek warrior, 4p = alexander went to the 4 corners)
66
% CHD in wolf hirschhorn
CHD in 50%: ASD/VSD/PS
67
% CHD in rubinstein-Taybi?
30-40%: usually single defect, ASD, VSD, PDA, CoA, PS, BAV
68
16 p deletion
rubinstein-Taybi
| 30-40%: usually single defect, ASD, VSD, PDA, CoA, PS, BAV
69
5p deletion
cri-du-chat
| ASD, VSD, 50% CHD
70
% CHD in cri-du-chat
ASD, VSD, 50% CHD
71
arial physiology normal: a,c,v,x,y
Atrial contraction, rv Contraction, atrial relaXation, Venous filling, atrial emptYing
72
atrial physiology, TR
high Venous filling wave
| blood shoots back into RA from RV causing inc atrial pressure during normal venous filling
73
atrial physiology, constrictive pericarditis
high A and V waves roughly equal
| RA constricted, atrial contraction and venous filling of a noncompliant chamber are equal
74
key feature of normal force velocity relationship
shortens more rapidly with lighterl load
inverse relationship between afterload (force) and shortening velocity
75
how to improve theforce frequency relationship
increase preload increase inotrophy gives a higher shortening velocity for a given afterload
76
what is arterial elastance? How is it measured?
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
what is the length tension relationship?
increased preload causes increased active tension
increased # of myosin cross bridges when you reach the intermediate length with maximum overlap
78
how does the RV PV loop differ in the RV and LV
LV is arectangular, RV is triangular where there is very little isovolumetric contraction and the pressure gradually increases during contraction
79
what is potential energy in a PV loop?
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
what is the ASD shunt direction in TGA?
systole (atrial compliance) L>R; diastole (ventricualr compliance) R->L
81
D-TGA with reverse diff cyanosis, walk through it from the LA
oxygenated blood LA-> LV->PA bypass lungs via PDA and increased oxygenation to lower body (not really desating of the upper ext)
82
what si the Q effective P and S in TGA?
Q effective is basically the flow across the ASD when that is all there is ; the anatomic L -> R and R_> L shunts
83
how does the MC prolapse murmur change with maneuvers?
sudden standing -> decreased preload -> earlier (less LV volume) ;; squating --> inc preload -> later click (more LV volume)
84
how do you distinguish murmur of AS vs HOCM?
manuevers: dec preload with valsalva/standing worsens HOCM;; inc preload with squatting worsens AS and improves HOCM
85
gene mutations in HLHS
NOTCH1, NKX2 (not NKX2.5)
don't confuse NOTCH 2 = alligille, NKX2.5 = ASD/conduction
86
embryo days 1-22, 23-29, 30
1-22 nada; 23 heart tube; 30 blood circulates
87
3 parts of bulbus cordis
proximal = trabeculated part of RV; mid = conus cordis = outflow tracts ; distal = truncus arteriosus = aortic/pulmonary arteries
88
when to the embryologic septae form?
days 27-37 (seven septum)
89
which leaflets are formed by the superior and inferior cushions?
anterior mitral, septal tricuspid
90
what does the inferior endocardial cusion contribute to?
atrial side = primum atrial septum, ventricular side, membranous V septum, valve = parts of septal TV and antior MV
91
what forms the membranous septum?
inf EC cushion, and muscular septum
92
what forms the conotruncal septum?
conus cordus cusions (outflow tract portion of bulbus cordis), fusion of conotruncal septum (AP window), and fusion between these 2 fusions
93
where do semilunar valves come from?
truncal cushions
94
3 things that form the atrial septm
primum, secundum, EC cusion (inferior)
95
fossa ovalis, what forms the valve and what forms the rim?
primum forms the valve (thin and mobile) located on the left, secundum forms the rim, more rigid, located on the righ
96
how does the primum septum form
goes from suprior to inferior, meets with niferior ECC to close "septum primum", fenstrations within form the septum secundum
97
how dos the septum secundum form
from the anterior and superior aspect, forms a falx and opening directed toward the IVC
98
usual absolute cutoff for HCM
LV thickness of 14
99
which PV is closely associated with the descending aorta
LLPV
100
coronaries to watch out for in TOF
prominent conal branch of accessory LAD (off the rRCA and crossing over)
101
recurrence risk of HLHS
8%
102
common features of mutation in ENG
HHT gene: pulmonary AVMs, epistaxis, GI bleeding, stroke (bleeding, ENG =engineering school causes this too)
103
HHT gene
ENG (endoglin is an angiogenesis thing) Engineering
104
endoglin
HHT disease (ENG is the gene)
105
deletion 4p16
Wolf Hirschhorn
106
primary gene for Noonans
PTPN11
107
PTPN11
primary gene for Noonans
108
RAF1 mutation
DCM (dilated turtle shell Rafael)
109
DCM gene
RAF1 (dilated turtle shell - Rafael)
110
Mowat Wilson syndrome association
LPA sling
111
LPA sling association with a syndrome
Mowat Wilson syndrome
cardiology testing 123
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