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