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25 Cards in this Set
- Front
- Back
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Where is the defect in a VSD?
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this defect in the membranous interventricular septum
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what pathologies are associated with a VSD?
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Tetralogy of Fallot
Cri du Chat Syndrome Trisomy 13 Trisomy 18 |
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What is the MC defect in an ASD?
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a patent foramen ovale
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What pathologies are ASDs associated with?
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Fetal Alcohol Syndrome
Congential Heart Disease in Down syndrome |
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What is the congenital heart defect in Down syndrome?
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1. Incomplete septum between the atria and ventricles
2. Abnormal Tricuspid valve |
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What is associated with a Patent Ductus Arteriosus?
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congenital rubella
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What is the characteristic murmur of a PDA?
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machinery murmur during systole and diastole
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What is the MC cyanotic congenital heart disease?
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Tetralogy of Fallot
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What are the defect in Tetralogy of Fallot?
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1. VSD
2. infundibular or valvular pulmonary stenosis (most important) 3. RVH 4. overriding aorta (least important) |
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what causes Tetralogy of Fallot?
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anterosuperior displacement of the infundibular septum resulting in unequal division of the aorta and pulmonary artery
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what shunts are cardioprotective in Tetralogy of Fallot?
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1. ASD (steps up O2 in right atrium)
2. PDA (shunts blood from the aorta to the pulmonary artery) |
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What causes Transposition of the Great Vessels?
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failure of the aorticopulmonary septum to spiral
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Who are Transpositions of the Great Vessels associated with?
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children of diabetic mothers
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What shunts are cardioprotective in transposition of the great vessels?
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1. ASD (step-up in right atrium so oxygenated blood can reach the aorta)
2. VSD (shunts blood into the left ventricle for oxygenation in the lungs) 3. PDA (shunts blood into the pulmonary artery for oxygenation) |
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What is the CXR finding in Tetrallogy of Fallot?
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boot shaped heart
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enzyme deficiency in gaucher disease?
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acid b-glucosidase (b-glucocerebrosidase)
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1. what does b-glucosidase do?
2. in what disease is it deficient? |
1. b-glucosidase cleaves glucosylceramide into ceramide during glycosphingolipid catabolism.
2. gaucher disease |
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1. what acucumulates in gaucher disease?
2. where does it accumulate? |
1. glucosylceremide (glucocerebroside)
2. the brain, liver, spleen, and bone marrow |
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1. what are gaucher cells?
2. what do they look like |
1. lipid-laden macrophages
2. wrinkled tissue paper-appearing macrophages |
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1. how does the juvenile form of b-glucosidase deficieny present?
2. how about the adult form? |
1. adolescents present with dementia
2. MC- in early adulthood patients present with myocclonic seizures and aseptic necrosis with femoral head fractures |
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what enzyme is deficient in pompe disease (glycogen storage disease type II)?
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lysosomal acid a-1,4-glucosidase (acid maltase)
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what does lysomal acid a-1,4-glucosidase do?
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this enzyme is responsible for the degradation of glycogen in lysomal vacuoles
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what happens when lysosomal acid a-1,4-glucosidase is deficient?
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glycogen accumulates in the lysosomes of the skeletal muscle, cardiac muscle, liver and kidneys
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what ate the clinical manifestations of pompe disease?
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1. macroglossia, hypertrophic cardiomyopathy, hypotonia, hepatomegaly, and other myopathies
2. death by age 1 |
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what are the lab findings in a patient with deficient lysosomal a-1,4-glucosidase?
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1. elevated serum creatine kinase (muscle damage), elevated AST (hepatocyte damage), and elevated lactate dehydrogenase
2. muscle biopsy shows vacuoles that stain positively for glycogen |
