Shared Flashcard Set

Details

PBL Test 2 - Pathology: The Heart -Congenital Heart Disease
Pathology of different types of congenital heart disease
75
Pathology
Professional
11/01/2010

Additional Pathology Flashcards

 


 

Cards

Term
Most congenital heart disorders arise from faulty embryogenesis during gestational weeks __ - __.
Definition
3 - 8
Term
What is the approximate incidence of congenital CV defects?
Definition
1%
Term
The incidence of congenital heart defects is higher in which types of infants?
Definition
Premature and stillborn
Term
During development, precursors from lateral mesoderm migrate to form a crescent of cells consisting of the first and second heart ______s by about day ____ of development.
Definition
fields, 15
Term
Each developmental heart field is marked by the expression of different...
Definition
sets of genes
Term
The first heart field mainly gives rise to the...
Definition
left ventricle
Term
Cells derived from the second heart field mainly give rise to the...
Definition
outflow tracts, right ventricle and most of the atria
Term
By day ___, the initial cell crescent develops into a beating tube, which loops to the ______, and begins to form the heart chambers by day _____.
Definition
20, right, 28
Term
Cells derived from the neural crest migrate to the _______ tract, where they participate in ________ and formation of the aortic _______.
Definition
outflow, septation, arches
Term
During development, the ECM underling the future __________ and outflow tract enlarges to produce swellings known as _______________.
Definition
AV canal, endocardial cushions
Term
By day ___, further septation of the heart produces the four-chambered heart.
Definition
50
Term
What are some of the major signaling pathways that regulate transcription factors involved in the development of the heart?
Definition
Wnt, VEGF, bone morphogenic factor, TGF-B, fibroblast growth factor, Notch pathways
Term
Since the heart is exposed to flowing blood during development, what type of forces probably play a role in cardiac development?
Definition
hemodynamic forces
Term
Specific ________ play critical roles in cardiac development by coordinating levels and timing of transcription factor expression.
Definition
micro-RNAs
Term
Many of the genetic defects that affect heart development are ________ ________ mutations that cause partial loss of function in one or another required factor, which are often __________ factors.
Definition
autosomal dominant, transcription
Term
The main known causes of genital heart disease consist of sporadic...
Definition
genetic abnormalities
Term
What is the explanation for why mutations in any one of several genes produce similar defects?
Definition
Some appear to work together in large protein complexes
Term
Some genes are also mutated in rare forms of adult-onset cardiomyopathy, indicating they are important not only for development but for...
Definition
maintaing the function of a POSTnatal heart
Term
In addition to its structural role, the _______ gene mutated in Marfan syndrome also acts as a negative regulator of _______.
Definition
fibrillin, TGF-B
Term
What deletion is found in up to half of pts with DiGeorge syndrome? Which organs develop abnormally? They are derivatives of what?
Definition
22q11.2, thymus, parathyroids and heart, 4th branchial arch and 3rd & 4th pharyngeal pouches
Term
Important genetic causes of congenital heart disease include chromosomal aneuploidies, particularly...
Definition
Turner syndrome, trisomy 21, 18 and 13
Term
What is the most common genetic cause of congenital heart disease?
Definition
trisomy 21
Term
About __% of pts with Down syndrome have heart defects, most often affecting structures derived from ________ cushions (eg. the ________ septae and valves)
Definition
40%, endocardial, AV septae
Term
The assertion that more subtle forms of genetic variation contribute to congenital heart disease is based upon which observation?
Definition
First-degree relatives of affects pts are at increased risk for congenital heart defects compared to the general population
Term
It is thought that __________ factors, along or with genetic factors, contribute to, or in some cases cause heart defects.
Definition
environmental
Term
What are examples of known exposures related to heart defects?
Definition
congenital rubella, gestational diabetes, exposure to teratogens
Term
Anomalies of congenital heart disease primarily fall into which 3 categories?
Definition
Left to right shunt, right to left shunt, obstruction
Term
An abnormal communication between chambers or blood vessels is called a...
Definition
shunt
Term
With a right to left shunt, what mainly results? Why?
Definition
hypoxemia and cyanosis, mixture of poorly and well-oxygenated blood (cyanotic congenital heart disease)
Term
What are some of the most important congenital causes of right to left shunts?
Definition
TofF, transposition of the great arteries, persistent truncus arteriosus, tricuspid atresia, total anomalous pulmonary venous connection
Term
With right to left shunts, _______ from the venous system can bypass the _______ and enter systemic circulation. This is called...
Definition
emboli, lungs, paradoxial embolism
Term
Severe, long standing cyanosis due to _____ to _____ shunt produces...
Definition
right to left, clubbing and polycythemia
Term
_____ to _____ shunts (like ASD, VSD, and patent ductus arteriosus) increase ________ blood flow and are not initially associated with _________.
Definition
left to right, pulmonary, cyanosis
Term
What time of shunts raise flow volumes and pressures in the pulmonary circulation?
Definition
Left to right
Term
Increase in volume and pressure of the pulmonary circulation can lead to...
Definition
right ventricular hypertrophy and atherosclerosis of the pulmonary vasculature
Term
The muscular pulmonary arteries respond to increased pressure and flow by undergoing what changes? What does this prevent?
Definition
medial hypertrophy and vasoconstriction, pulmonary edema
Term
Prolonged pulmonary arterial vasoconstriction stimulates the proliferation of the vascular wall cells and the development of irreversible...
Definition
obstructive lesions of the intima
Term
When pulmonary vascular resistance approaches systemic levels, it produces what sort of new shunt? Why is this bad?
Definition
right to left shunt, introduces unoxygenated blood into systemic circulation (late cyanotic congenital heart disease or Eisenmenger syndrome)
Term
The structural defects of congenital heart disease are considered irreparable once what develops?
Definition
irreversible pulmonary hypertension
Term
A complete obstruction is called an...
Definition
atresia
Term
Some defects induce a decrease in the volume and muscle mass of a cardiac chamber, this is called...
Definition
hypoplasia before birth, atrophy if it happens after birth
Term
The most common left to right shunts include...
Definition
ASDs, VSDs, patent DA, and AV septal defects
Term
What general type of CHD is usually asymptomatic until adulthood?
Definition
ASDs
Term
What are the 3 major types of ASDs, classified according to location?
Definition
secundum, primum, sinus venosus
Term
90% of all ASDs are...
Definition
secundum ASDs
Term
Which ASDs are located near the entrance of the SVC? Which are adjacent to the AV valves?
Definition
sinus venosus, primum
Term
With ASDs, a ______ is often present as a result of excessive flow through the _______ valve.
Definition
murmur, pulmonary
Term
In 20% of people with an unsealed flap of the FO, brief periods of right to left shunting can result from...
Definition
sustained pulmonary hypertension or transient increases in right sided pressures
Term
Most VSDs are associated with other CHDs, only ___% are isolated.
Definition
20 - 30%
Term
When a VSD lies below the pulmonary valve, it is called a __________ VSD.
Definition
infundibular
Term
large VSDs lead to what problems virtually from birth?
Definition
right ventricular hypertrophy and pulmonary HTN
Term
In people with large unclosed VSDs, irreversible ________ _______ disease develops, ultimately resulting in ______ reversal, cyanosis and death.
Definition
pulmonary vascular, shunt
Term
About 90% of PDAs occur as an _______ anomaly.
Definition
isolated
Term
When can a PDA be beneficial?
Definition
with obstructions of the pulmonary or systemic outflow tracts
Term
What defect results from failure of the endocardial cushions of the AV canal to fuse adequately?
Definition
AV Septal defect
Term
Partial AVSD consists of...
Definition
primum ASD and a cleft anterior mitral leaflet
Term
In early life, right to left shunt diseases cause what form of heart disease?
Definition
cyanotic congenital heart disease
Term
The clinical consequences of TOF depend primarily on...
Definition
the severity of the subpulmonary stenosis
Term
With TOF, when does a right to left shunt develop?
Definition
When right-sided pressures exceed left-sided pressures
Term
Abnormal formation of the truncal and aortopulmonary septa leads to...
Definition
TGA
Term
In TGA, which chamber becomes prominent?
Definition
The right ventricle, because it functions as the systemic ventricle
Term
What arises from a developmental failure of the separation of the embryonic truncus arteriosus into the aorta and pulmonary artery?
Definition
PTA
Term
With PTA, there is an associated _______, and PTA produces systemic _______ and increased ________ blood flow.
Definition
VSD, cyanosis, pulmonary
Term
Tricuspid atresia results from unequal division of...
Definition
the AV canal
Term
How is circulation maintained to some degree in the case of tricuspid atresia? When does cyanosis present?
Definition
a right to left shunt thru ASD (or patent FO) and a VSD, virtually from birth
Term
What always comes with a total anomalous pulmonary venous connection?
Definition
either patent FO or an ASD
Term
Coarctation of the aorta is more frequent in which gender?
Definition
Males 3x more than females, but females with Turner syndrome frequently have it
Term
What is the infantile form of coarctation of the aorta?
Definition
tubular hypoplasia of the aortic arch proximal to a PTA, often symptomatic in early childhood
Term
Describe the adult form of coarctation of the aorta
Definition
discrete ridgelike infolding of the aorta, just opposite the closed DA
Term
In half of cases, coarctation of the aorta is accompanied by...
Definition
a bicuspid aortic valve
Term
Pulmonary stenosis or atresia can be isolated or present as a part of which CHDs?
Definition
TOF or TGA
Term
Aortic valve narrowing and obstruction can occur in which 3 places?
Definition
valvular, subvalvular, supravalvular
Term
Subvalvular aortic stenosis can be caused by...
Definition
a thickened ring or collar of dense endocardial fibrous tissue below the level of the cusps
Term
Supravalvular aortic stenosis results from...
Definition
an inherited form of aortic dysplasia in which the ascending aortic wall is greatly thickened, causing luminal constriction
Term
Supravalvular aortic stenosis can be part of what syndrome? What is this caused by?
Definition
Williams, deletions on chromosome 7 for elastin gene
Supporting users have an ad free experience!