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Cardiovascular > Twenty Three > Flashcards

Twenty Three Flashcards

1
Q

Describe the embryological developmental timeline of the heart.

A

 Week 3: Endocardial tube
has formed

 Driven by metabolic needs exceeding diffusion alone

 Bordered by aortic arches rostrally, venous system
caudally

 Day 22-23: begins to beat

 Day 23: tube bends to right

 Constrictions form in tube
 Separates truncus arteriosus, bulbus cordis,
ventricle, atrium, and sinus venosus
 AV canal separates atrium and ventricle

 Week 4: Ventricle begins to grow and septate (from apex)

 Week 5: Spiraling of aorticopulmonary septum and formation of outlet ventricular septum

 Weeks 4-6: Development of atrial septum

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2
Q

Describe the epidemiology of CHD?

A

 Most common cause of heart disease in children

 ~1% incidence

 Most common organ malformed at birth

 10% of early miscarriages

 Spectrum of presentation and severity
 Asymptomatic through childhood
 Death in infancy without immediate treatment
 Everything in between

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3
Q

Describe the etiology of CHD?

A

 Why?

 Majority: “Multifactoral”

 Genetic + environmental

 Genetics
 Recurrence risk
 Syndromes
 ~1/3 children with chromosomal abnormalities

 Maternal risks
 Maternal diabetes

 Teratogens
 Alcohol, lithium, etc.

 Congenital infections
 Congenital rubella

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4
Q

Describe the pathway of oxygenated blood.

A

 Oxygenated blood:

  1. Placenta

 Umbilical vein to:

 Ductus venosus to:

 Inferior vena cava to:

 Right atrium to:

 Foramen ovale to:

 Left atrium to:

 Coronary arteries, brain

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5
Q

What are the ductus venosus, foramen ovale, and ductus arteriosus?

A
  1. Ductus venosus-A way for oxygenated blood from the placenta to bypass the liver.
  2. Foramen ovale-A way for blood to bypass pulmonary circulation (connects RA and LA)
  3. Ductus arteriosus-Another way for blood to bypass pulmonary circulation (connects PA with Aorta)
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6
Q

Describe the resistance of both pulmonary and systemic vasculature in fetal circulation.

A

 Systemic Vasculature:
 Placenta: very high vascular cross sectional area
 = “low” systemic vascular resistance (SVR)

 Pulmonary Vasculature:
 Lungs deflated (fluid-filled)
 Low oxygen tension
 = “high” pulmonary vascular resistance (PVR)

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7
Q

Describe the CO of the fetal heart? Where does it leave and where does it go?

A

 Where does fetal blood go?

 Right ventricle: ~2/3 of fetal

cardiac output

 12% of flow to lungs

 88% of flow to descending aorta

 Left ventricle: ~1/3 of fetal

cardiac output

 9% of flow to coronary arteries

 62% of flow to carotid-
subclavian arteries

 29% of flow to descending aorta

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8
Q

How and why does circulation change in a newborn?

A

 Systemic Vasculature:
 Umbilical vessels constrict
 Increases SVR

 Pulmonary Vasculature:
 Lungs inflate, pulling open pulmonary vasculature
 Oxygen increases
 Decreases PVR

 Increased pulmonary flow increases LV stroke volume
 LV cardiac output = RV cardiac output

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9
Q

What happens to the foramen ovale and ductus arteriosus after birth?

A

 Foramen ovale
 Decreasing PVR increases pulmonary blood flow
 Increased left atrial filling
 Foramen flap closes

 Ductus arteriosus
 Endogenous prostaglandin E1 (PGE1) decreases
 Increased oxygen tension
 Stimulates ductal closure

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10
Q

What happens to the individual ventricles after birth and why? How much time?

A

 Higher SVR = thickeningof LV

 Lower PVR = thinning of RV

 LV:RV Weight Ratio

Age Ratio

Birth 0.8:1

1 Month 1.5:1

6 Months 2:1

Adult 2.5:1

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11
Q

What is cyanosis? What are the two possible cardiac causes of it?

A

 Strict definition:

 > 4 g/dL deoxygenated

hemoglobin

 Cardiac causes:

 Inadequate pulmonary blood flow (lack of
oxygenation)

 Mixing of systemic venous (blue) blood into systemic
arterial (red) blood

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12
Q

What are the three paired fetal veins? What do they do?

A

 3 paired veins in embryo:

a) Vitelline veins (return from yolk sac)
b) Umbilical veins (return from placenta)

c) Cardinal veins (return from body of embryo)
 Anterior and posterior
(subcardinal, supracardinal) cardinal veins

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13
Q

What fetal veins do the IVC and SVC come from? Why is this important to note?

A

 Superior vena cava:

 Right anterior cardinal vein

 Bridging vein between anterior

cardinal veins becomes

brachiocephalic vein

 Inferior vena cava:

  1. Hepatic and subhepatic segments (vitelline vein)
  2. Prerenal segment (right subcardinal vein)
  3. Renal segment (subcardinal-
    supracardinal anastamosis)
  4. Postrenal segment (right supracardinal vein)

It’s signinficant b/c the IVC comes from many different fetal veins which means that various factors can lead to a deformed IVC.

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14
Q

What is a persistent left SVC? What is the vasculature like? Is it cyanotic or acyanotic?

A

 Persistent Left SVC: persistence of left anterior cardinal vein

 Drains to coronary sinus
 Acyaontic.

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15
Q

What is an interuppted IVC? What is the vasculature like? Is it acyanotic or cyanotic?

A

 Interrupted IVC: absence of a contribution of IVC
development (most commonly hepatic segment)

 IVC drains into azygous system

 Acyanotic?

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16
Q

Describe the development of pulmonary veins.

A

 Vascular plexus of foregut enmeshes lung buds (connections to

cardinal and vitelline systems)

 Evagination in posterior wall of left atrium

 “Common pulmonary vein” connects LA to foregut plexus

 Systemic connections involute

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17
Q

What is TAPVR? What is the vasculature like? What are the three types? Is it acyanotic or cyanotic?

A

 Pathology: Total

Anomalous Pulmonary

Venous Return (TAPVR)

 Lack of connection to LA,

persistence of connections to

cardinal/vitelline veins

 3 types:

  1. Supracardiac: Drain above
  2. Cardiac: Drain back to
  3. Infracardiac: Drain below

heart (often SVC)

heart (often coronary

sinus)

heart (often IVC/hepatic

veins)

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18
Q

What occurs when TAPVR involves obstructed pulmonary veins? Clinical implications? Unobstructed? Clinical implications

A

 “Obstructed” pulmonary veins (usually in infracardiac due to the diaphragm).

 Profoundly cyanotic, unstable

 Surgical emergency

 “Unobstructed”

pulmonary veins

 Cyanotic (mixed systemic

and pulmonary veins)

 Repaired 1st

month of life

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19
Q

Describe atrial septal development. What happens at birth?

A

 Atrial Septum:

Development

 Goal: allow fetal shunt that

closes at birth

  1. Septum primum: grows

 Leaves ostium primum

 Perforations in septum

 Fuses with endocardial

from roof towards

endocardial cushions

between septum primum

and endocardial cushion

primum form ostium

secundum

cushion to close ostium

primum

  1. Septum secundum:

grows to right of septum

primum, covering

ostium secundum

 Leaves foramen ovale

 “Flap” of foramen ovale

on LA side from septum

primum

 At birth: increased

pulmonary flow

increases LA flow, closes

flap

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20
Q

What is a patent foramen ovale? How common is it? What is it like clinically?

A

 Intact septum

 Remnant of PFO flap:

fossa ovalis

 “Patent” foramen ovale

present in 15-20% of the

population

 No pathologic

significance unless. . .

 Avenue for a clot to pass

from systemic veins to

systemic arteries

• “Paradoxic” embolus

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21
Q

What is the pathology of an ASD? Cyanotic or acyanotic? What are the three distinct types? What symptoms are there? What will be found on exam? How are the distinct types treated?

A

 Pathology: Atrial Septal Defect (ASD)
 Due to deficiency of septal tissue
 Acyanotic

 3 distinct types:

  1. Sinus venosus (10%)
     Often with RUPV PAPVR
  2. Ostium secundum (60%)
     Involves fossa ovalis
  3. Ostium primum (30%)
     Involves endocardial cushion

 Symptoms: ~lower side of growth curve

 Physical exam:
 Systolic ejection murmur at LUSB (pulmonary flow
murmur)
 Fixed split S2

Treatment:
 No symptoms = no medications

 ~40% secundum ASD close by age 4 years

 Surgery (primum, sinus

venosus, some secundum)

 Interventional cath

(secundum)

22
Q

Describe the development of the AV valves.

A

 Endocardial Cushions (EDC): Development

 “Atrioventricular canal” = junction of atrium and ventricle

 Endocardial cushions (EDC) form dorsal/ventral to
separate canal into 2 canals (right/left)

 EDC also contributes to:
 Atrial septum (fuses with septum primum to close
ostium primum)
 Ventricular septum (inlet portion)

Mitral and Tricuspid Valves: Development

 Proliferation of tissue around AV canals

 “Delamination:” valves “peel” off ventricular endocardial
surface (anchored at hinge point)

23
Q

What is an AVC? What are the different names for it? What are the two different kinds? What is it commonly associated with?

A

Atrioventricular Canal

Defect (AVC)

 Embryology: lack of fusion of endocardial cushions

 Endocardial cushion defect (ECD) = atrioventricular
canal defect (AVC) = atrioventricular septal defect (AVSD)

 “Complete” versus “partial” AV canal defect

 Commonly associated with

Down syndrome

24
Q

Describe the pathology of complete AVC? Acyanotic or cyanotic? What are the symptoms? Physical exam findings? Treatment?

A

a) “Complete” Atrioventricular Canal Defect

 Lack of fusion of entire endocardial cushion

 Results in:

  1. Ostium primum atrial septal defect (ASD)
  2. Common atrioventricular valve spanning both ventricles
  3. Inlet ventricular septal defect (VSD)

 Acyanotic

“Holosystolic” murmur
 Pitch/volume varies based on pressure difference
from LV to RV

 Symptoms: pulmonary overcirculation (related to VSD)
 Tachypnea, tachycardia
 Poor feeding = poor weight gain
 Increased catechols = diaphoresis

 Treatment:

 Symptomatic medications: 
 Diuretics (dry out lungs) 
 Digoxin (augment contractility)?
 ACE-inhibitor (afterload reduction) 
 Augment nutrition (increasing caloric density of formula) 
 Surgical closure (~4-6 months)
25
Q

Describe partial AVC. Cyanotic? What are the syptoms? Exam Findings? Treatment?

A

b) “Partial” Atrioventricular Canal Defect
 Incomplete fusion in a portion of endocardial cushion

 Results in:

  1. Ostium primum ASD
  2. Cleft in anterior leaflet of mitral valve

 Acyanotic

 Symptoms: ~lower side of growth curve

 Physical exam:
 Systolic ejection murmur at LUSB (pulmonary flow murmur)
 Fixed split S2
 +/- holosystolic murmur at apex (mitral regurgitation)

 Treatment:
 No symptoms = no medications
 Surgical repair (ASD closure, cleft closure) ~2 years

26
Q

Describe the vasculature and bloodflow in tricuspid atresia. Treatment?

A

2) Pathology: Tricuspid

Atresia

 Atresia = absence of a

normal opening

 Clinical:

 Where does right atrial

blood go?

 ASD (right to left)

 How does blood get to lungs?

 VSD to right ventricle
 PDA

 cyanotic

 Treatment: single ventricle palliation

27
Q

What is the pathology of ebsteins anomaly? What is the resulting vasculature? What risk factor is it associated with? Cyanotic? Treatment?

A

3) Pathology: Ebstein’s Anomaly

 Failure of delamination of

tricuspid valve

 Results in leaflets “stuck”in body of RV

 Significant tricuspid regurgitation

 Varying degrees of

severity

 Association: maternal lithium (teratogen)

 Clinical: May be acyanotic or cyanotic
 Depends on severity of delamination failure

 Treatment: tricuspid valve repair if significant

28
Q

Describe ventricular septal development.

A

 Ventricular Septum: Development

 Week 4: muscular

ventricular septum grows

up from apex

 “Excavation” of ventricles

 Leaves interventricular

foramen (above)

 Endocardial cushion

forms inlet portion

 Week 5: “Bulbar ridges”

grow from outflow tracts

 Week 8: fusion of

muscular/inlet/bulbar

septum (membranous

septum)

29
Q

What are the 4 regions of the ventricular septum?

A

 Ventricular septum

composed of 4 regions:

  1. Inlet (EDC)
  2. Outlet (Bulbar)
  3. Trabecular (Muscular)
  4. Membranous (Fusion point)
30
Q

How common is a VSD? What is their etiology? Cyanotic? Symptoms? Exam Findings? Treatment?

A

1) Pathology: Ventricular

Septal Defect (VSD)

 Most common congenital

heart defect

 Isolated VSD’s: ~20% of all CHD

 VSD’s occur due to:

  1. Malalignment of portions

of septum (adequate

tissue)
2. Deficiency in tissue

(congenital vs traumatic

vs MI)

 Acyanotic

“Holosystolic” murmur at LLSB

 Pitch/volume varies based on pressure difference from
LV to RV

 Murmur and symptoms:when?

 Newborn: higher PVR limits shunting

 ~2 months of age: PVR has dropped low enough
to allow significant shunting

 Symptoms: pulmonary overcirculation (related to VSD)

 Tachypnea, tachycardia

 Poor feeding = poor weight gain

 Increased catechols = diaphoresis

 Treatment:

 Symptomatic medications:

 Diuretics (dry out lungs)

 Digoxin (augment contractility)

 ACE-inhibitor (afterload reduction)

 Augment nutrition (increasing caloric density
of formula)

 Surgical closure (~4-6 months)
versus cath device closure

31
Q

Describe the pathology of tetralogy of fallot. Cyanotic? What are the differences between a tetralogy with severe RVOTO and minimal RVOTO? Treatment?

A

2) Pathology: Tetralogy of

Fallot (TOF)

 “Tetrad” = 4; Fallot =

French pathologist

 3 congenital defects, 1

“acquired”:

  1. Ventricular septal defect
  2. Overriding aorta (covers both ventricles
  3. Right ventricular outflow tract obstruction
    (RVOTO)
  4. Right ventricular hypertrophy

 Acyanotic or cyanotic?

 Decreased pulmonary flow +

right to left VSD = cyanosis

 Most common cyanotic

defect

 Clinical:

 Degree of RVOTO is variable

(worsens over time)

 Significant RVOTO (typical): cyanotic

 Murmur: systolic ejection murmur at ULSB (~PS)

 Minimal RVOTO (less common): acyanotic
 Murmur: holosystolic murmur at LLSB (VSD)

 Medical: beta blocker to prevent spell

 Surgical: ~4-6 months (depending on how
cyanotic)

32
Q

What is a hypercyanotic tet spell? How is it treated?

A

 Hypercyanotic “tet” spell (Tetralogy of fallot)

 Spasm of RVOT muscle = no pulmonary blood flow

 Increased cyanosis
 Murmur: absent!

 Treatment: relieve spasm, force blood to lungs

 Increase systemic vascular resistance
 Squat
 Alpha agonist (phenylephrine)

 Reduce spasm
 Beta blocker (propranolol, esmolol)
 Morphine

 Oxygen? Won’t help.

33
Q

Describe conotruncus development.

A

 Week 5: ridges form in

bulbus cordis and truncus

arteriosus

 Ridges fuse to create

aorticopulmonary septum

 As they fuse, ridges spiral

180 degrees

 Neural crest cells

contribute to spiraling

 Spiraling brings PA

anteriorly over RV, AO

posteriorly over LV

34
Q

Describe semilunar valve development.

A

 Semilunar Valve Development

 3 swellings form on each side of aorticopulmonary septum

 Swellings “hollow out” to form cusps of valves

35
Q

What is the pathology in transposition of the great arteries? Cyanotic? Symptoms? Presentation? What does survival depend on? exam findings? Treatment?

A

Transposition of the

Great Arteries (TGA)

 What if spiraling is

incomplete?

 Leads to “ventriculo-
arterial discordance”

 Ao anterior over RV, PA posteriorly over LV

 Most common cyanotic defect to present in infancy

 Parallel circulations

 Arterial desaturation in systemic bed

 Survival depends on ability to mix
 Atrial septal defect
 Ventricular septal defect
 Patent ductus arteriosus

 Spectrum of presentation
 No mixing = profound desaturation

 No characteristic exam finding (depends on
additional defects)

 Treatment:

 Enhance mixing: PGE1

 Surgery:

 ~1 week of life

 Arterial switch operation

 Aorta and pulmonary

artery transected,

“switched” to appropriate

ventricle

 Transfer coronary arteries

 Cardiac catheterization:

balloon atrial septostomy

(BAS)

 “Rashkind procedure”

 Bedside or in catheterization

lab

 Through umbilical vein or

femoral vein

36
Q

Describe the pathology of truncus arteriosus? cyanotic? Treatment?

A

Pathology: Truncus Arteriosus

 What if bulbar and conotruncal ridges fail to
develop?

 No septation between outflow tracts

 = “Common” outflow tract with VSD beneath outflows

 Clinical: cyanotic

 Treatment: surgical separation of outflow tracts (~1 week of life)

37
Q

What is the pathology of semilunar valve stenosis? Cyanotic? Exam findings? Progression of disease? Treatment?

A

Pathology: Semilunar Valve Stenosis

 Incomplete apoptosis results in either:

 Thicker (less mobile)

leaflets

 Fusion of commissures (bicuspid valve)

 AS: acyanotic

 PS: acyanotic unless severe (limits pulmonary
flow = cyanotic)

 Semilunar valve stenosis:

exam
 Opening click (end of isovolumic contraction)

 Systolic ejection murmur (isovolumic contraction
silent)

 Aortic Stenosis: often progressive over lifetime

 4:1 male:female

 Pulmonic stenosis: not often progressive beyond
infancy

 Treatment: cath-based valvuloplasty

38
Q

Describe the developement of the aorta. What do the six paired arches turn into? Why is this significant?

A

 Aorta: Development

 2 dorsal aortae: fuse to form descending aorta

 6 paired vessels form to connect heart tube to
dorsal aortae

 Correspond to 6 paired

 Involvement of neural crest branchial pouches (foregut)
cells

 Persist vs. dissolution

 Aortic arch sidedness: which bronchus is crossed?

6 paired arches:

 1, 2: head/facial vessels

(yellow, brown)

 3: common carotid arteries

(green)

 4: true aortic arch,

contralateral proximal

subclavian artery (red, deep

blue)

 5: no remnant (dotted lines)

 6: ductus arteriosus (light

blue)

 7: distal subclavian arteries

(medium blue)

There are many different kinds of defects that can lead to defects of the aorta.

39
Q

What are vascular rings? What are the clinical findings? Describe the most common kind? cyanotic? Treatment?

A

1) Pathology: Vascular Rings

 Definition: aortic arch

anomaly in which trachea

and esophagus completely

surrounded by vascular

structures

 Vascular structures need not

be patent (i.e. ligamentum

arteriosum)

 Clinical:

 Respiratory: stridor, cough, noisy breathing

 Swallowing: dysphagia, choking

Most common vascular ring: Double aortic arch

 Persistence of bilateral 4th arches
 Usually “right-dominant”
 Acyaontic

 Treatment: surgical division of smaller arch

40
Q

What happens in patent ductus arteriosis? Cyanotic? Exam findings? Symptoms? Treatment?

A

2) Pathology: Patent Ductus Arteriosus

 Normally closes ~2 days of life

 Acyanotic

 Continuous “machine-like” murmur at
subclavicular area

 Diastolic “spilling” of blood in PA

 Drops diastolic pressure in aorta

 “Bounding” pulses

 Murmur and symptoms:

when?

 Newborn: higher PVR

limits shunting

 ~2 months of age: PVR has dropped low enough
to allow significant shunting

 Symptoms: pulmonary overcirculation (related to 
VSD) 
 Tachypnea, tachycardia 
 Poor feeding = poor weight gain 
 Increased catechols = diaphoresis

 Treatment:

 Indomethicin

 Symptomatic medications:

 Diuretics (dry out lungs)

 Digoxin (augment contractility)

 ACE-inhibitor (afterload reduction)

 Surgical ligation

 Catheter occlusion

41
Q

What is the pathology of coarctation of the aorta? Cyanotic? Symptoms? Exam Findings? Treatment? Exam findings in older children?

A

3) Pathology: Coarctation

of the Aorta (COA)

 What if ductal tissue encircles aorta?

 Typically discrete stenosis of thoracic aorta

 Acyanotic

“Juxtaductal” location

 Symptoms:

 Relates to increased LV pressure: Tachypnea

 Shock if severe (lower extremity hypoperfusion)

 Diagnosis:

 Weak femoral pulses

 Brachiofemoral delay

 Poor LE perfusion

 Right arm hypertension

 PGE (infancy)

 Surgical repair ~1 week

 Versus angioplasty/stent

 Elective repair if older

 Older Children:
 Asymptomatic
 Right arm HTN
 CXR: “rib notching”, “3 sign”

42
Q

Describe eisenmengers physiology? What causes it? What does it lead to?

A

 Eisenmenger’s Physiology

 Definition:
 Irreversible pulmonary vascular changes
 Arteriolar intimal and medial hypertrophy
 Decreased cross sectional area: increased pressure and resistance
 Thrombosis

 Due to: untreated shunts that
 Increased pulmonary flow
 Increased pulmonary pressure

 Leads to:

 Reversal of shunt
 Desaturation, cyanosis
 Polycythemia: headache, stroke

43
Q

What are some defects that have the potential to lead to eisenmengers physiology? What is their typical age at which they reach pulmonary HTN? What is the treatment?

A

 Defects with potential for the development of Eisenmenger’s physiology:

Cardiac Defect Typical Age of Pulmonary HTN

VSD (large) Infancy/childhood

PDA (large) Infancy/childhood

ASD (large) Adulthood

AVC Infancy/childhood

Truncus Arteriosus Infancy/childhood

 Eisenmenger’s Treatment:
 Pulmonary vasodilators (sildenafil)
 Heart-lung transplant

44
Q

What is the incidence/genetics of DS? How is CHD related to chromosomal abnormalities? Clinical findings? How common is CHD in it? Which defects?

A

 ~1/3 children with chromosomal abnormalities have
CHD

  1. Down Syndrome

 Incidence: 1:800

 Most common

chromosome abnormality

in liveborn infants

 Genetics:

  1. Trisomy 21 (94%)
  2. Translocation trisomy

(3-4%)

 Robertsonian

translocation

  1. Trisomy 21 mosaicism

(2-3%)

 Clinical findings:

  1. Dysmorphisms

 Facial features

 Clinodactyly

 Saddle gap deformity

  1. GI abnormalities

 Duodenal atresia

 Hirschsprung disease

  1. Endocrine abnormalities

 Hypo/hyperthyroid

 Diabetes

 Growth: short stature,

obesity

  1. Hematologic

abnormalities

 Transient

myeloproliferative

disorder

 Leukemia (ALL, AML)

  1. Neurocognitive

 Atlantoaxial instability

 Cardiovascular disease

(44%)

  1. AV canal defect (45%)
  2. VSD (35%)
  3. ASD (8%)
  4. PDA (7%)
  5. TOF (4%)
45
Q

What are three other chromosomal abnormality syndromes associated with CHD? How closely associated? What causes them? What defects are usually involved? Clinical findings?

A
  1. Edwards Syndrome

 Trisomy 18

 99% CHD

 VSD, ASD, PDA

  1. Patau Syndrome

 Trisomy 13

 90% CHD

 VSD, ASD, PDA

  1. Turner Syndrome

 Incidence: 1:2,500

females

 Genetics:

 45,X (50-55%)

 Mosaic 45,X/46,XX (45-

50%)

 Clinical findings:

  1. Dysmorphisms

 Low posterior hairline

 Prominent rotated ears

 Wide spaced nipples

  1. Lymphatic abnormalities

 Lymphedema (hands,

feet)

 Webbed neck

  1. Endocrine abnormalities

 Short stature

 Ovarian dysgenesis (primary amenorrhea)

 Cardiovascular disease

(25-30%)

  1. Bicuspid aortic valve

(30-50%)

  1. Coarctation of the aorta

(10%)

 ? Due to abnormal

lymphatics

46
Q

How common is DiGeorge Syndrome? What are its genetics like? Clinical Findings? How common is CHD in it? Which types?

A
  1. DiGeorge Syndrome

 Incidence: (probably)

1:4,000-6,000

 One of most common multiple malformation
syndrome

 Most common deletion

syndrome

 Highly variable

 Genetics:

 Submicroscopic deletion of

chromosome 22q11

 Diagnosis: FISH

 6-10% of cases are familial

 Clinical findings (variable):

  1. Facial features

 Overfolded/protruding

ears

 Bulbous/prominent nose

 Hooded eyelids

 Often subtle

  1. Thymic hypoplasia,

immune deficiencies

(77%)

 Impaired T-cell function

 IgA deficiency

  1. Palatal abnormalities

(60%), cleft palate

  1. Parathyroid hypoplasia,

hypocalcemia (49%)

  1. Behavioral and

psychiatric problems

  1. Feeding disorders

 Cardiovascular disease

(75-80%)

 “Conotruncal” defects

  1. Tetralogy of Fallot

 15% TOF have 22q11-

  1. Interrupted aortic arch

 50% IAA have 22q11-

  1. Truncus arteriosus

 35% PTA have 22q11-

  1. Perimembranous VSD
  2. Aortic arch anomalies
47
Q

What is NK2.5? What CHDs is it associated with?

A
  1. NKX2.5

 First gene defect linked

to an isolated CHD

 Fruitfly: deletion of

NKX2.5 = no heart

 “Tinman” gene

 Humans:

 ASD

 Progressive heart block

 Risk for sudden death

(conduction failure)

48
Q

Which CHD are acyanotic?

A
  1. Ventricular Septal Defect (VSD)
  2. Atrial Septal Defect (ASD)
  3. Patent Ductus Arteriosus

(PDA)

  1. AV Canal Defect (Endocardial

Cushion Defect)

  1. Coarctation of the Aorta (COA)
  2. Interrupted IVC, persistent left

SVC

  1. Aortic Stenosis (AS)
  2. Pulmonic Stenosis (PS, if not
    severe)
  3. Vascular ring
49
Q

Which CHD are cyanotic and part of the 5 Terrible T’s)? Which are not part of the 5 terrible T’s

A
  1. Truncus Arteriosus
  2. Transposition of the Great Arteries (TGA)
  3. Tricuspid Atresia
  4. Tetralogy of Fallot (TOF)
  5. Total Anomalous Pulmonary Venous Return (TAPVR)

 Severe/Critical Pulmonic

Stenosis (PS)

 Pulmonary Atresia

 Ebstein’s Anomaly

 Eisenmenger’s Physiology

50
Q

Which CHD are ductal Dependent for pulmonary flow? Systemic Flow? Ductal Dependent Mixing?

A
  1. Ductal Dependent Pulmonary Blood Flow

 No PDA = no pulmonary blood flow

 = obstruction to pulmonary flow

1) TOF (if severe RVOTO)
2) PS (if critical/severe)
3) Tricuspid atresia (usually)
2. Ductal Dependent Systemic Blood Flow

 No PDA = no systemic blood flow

 = obstruction to systemic flow

1) COA
2) AS (if critical/severe)
3. Ductal Dependent Mixing

 No PDA = no mixing (when mixing is necessary)

 = blue blood to lungs, red blood to body

1) TGA

Cardiovascular (15 decks)

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