CPR Exam #1 Diseases Flashcards
Amytrophic Lateral Sclerosis
Deficiency of superoxide dismutase, leading to excess oxidative damage and death of upper and lower motor neurons. This is only 10% of ALS cases. 90% of cases are idiopathic.
Chronic Granulomatous Disease
Hereditary NADPH oxidase deficiency. Leads to less production of ROS, RNOS, and HOCL. Mostly diagnosed before age 5. X-linked recessive pattern.
Myeloperoxidase Deficiency
Hereditary deficiency of myeloperoxidase, leading to decreased production of HOCL (bleach) which kills fungal pathogens.
Glucose 6-phosphate Dehydrogenase Deficiency
X-linked recessive inheritance pattern. Abnormally low levels of Glucose 6-phosphate dehydrogenase. This predisposes RBCs to oxidative damage due to no glutathione.
Peripheral Vascular Disease
Usually caused by atherosclerosis, leading to infarction of peripheral tissues. Common with uncontrolled diabetes.
Cerebrovascular Disease
Cardiovascular disease. Includes stroke, transient ischemic attack, and dementia.
Coronary Heart Disease
Cardiovascular disease. Includes angina, myocardial infarction, sudden death, and heart failure.
Hypertension
Blood pressure high than 120/80 consistently over a period of time. Can cause damage to smaller blood vessels by scarring, hardening, and narrowing of blood vessels.
Atherosclerosis
When LDL levels are high, it spontaneously oxidizes and can’t be uptaken by tissues. Macrophages migrate to their location engulf them, die, and settle into fibrofatty plaques called atheromas. Atheromas then begin to occlude vessels.
Marfan Syndrome
Autosomal dominant inheritance pattern. Fibrillin-1 gene defect-Dominant negative mutation. Leads to weakened tunica media, which can cause aortic aneurysm/dissection.
Aortic Aneurysm
Weakening of the tunica media of the aorta from prolonged stress, causing a local expansion in a weak spot in the aorta. Can rupture, causing massive internal hemorrhage and death.
Aortic Dissection
Association with hypertension. A laceration of the tunica intima leads to tracking of blood into the tunica media, causing a high pressure hematoma to form which frequently bursts through the tunica adventitia, causing massive hemorrhage.
Cerebral Aneurysm
Aneurysm that presents in the vasculature of the cerebrum, often occurring in the vascular of cerebrum, often occuring in the circle of willis.
Varicose Veins
Increased intraluminal pressure leads to chronic vasodilation of superficial veins, in conjunction with damaged valves. Loss of vessel wall support may contribute
Lymphedema
Fluid accumulation in the lymphatic system due to obstruction from trauma, surgery, radiation, inflammation, parasites, etc.
Bernard-Soulier Syndrome
Inherited defect in GP1b of platelets, resulting in inhibited platelet aggregation, as GPIB is not present to present to bind vWF, which helps stabilize platelets on exposed subendothelial collagen.
Von Willebrand Disease
Deficiency of von Willebrand Factor, which is needed for the anchoring of platelets via GP1B to subendothelial collagen.
Glanzman Thrombasthenia
Deficiency of von Willebrand Factor, which is needed for the anchoring of platelets via GPIB to subendothelial collagen.
Hemophilia A
Deficiency of Factor VIII, causing a defect in the intrinsic coagulation pathway. X-linked recessive inheritance.
Hemophilia B
Deficiency of Factor IX, causing a defect in the intrinsic coagulation pathway. X-linked recessive inheritance.
Thrombocytopenia
Low platelet count. Technically, it’s a symptom, not a disorder.
Pericarditis
Inflammation of the pericardium.
Congestive Heart Failure
Inability to maintain blood circulation. Various causes.
Cardiac Tamponade
Pericardial effusion, usually of blood, that compresses the heart. Most common causes are MI and stab wound.
Dextrocardia Situs Inversus
L-loop forms, instead of D-loop, positioning the heart to the right instead of the left.
Complete Situs Inversus
All thoracic and abdominal viscera are flipped over the line of symmetry. Kartagener Syndrome is classic example.
Ectopia Cordis
Pericardium and heart are exposed through a congenital defect in the chest wall, due to failure of the lateral walls to fuse in week 4.
ASD: Probe Patent Foramen Ovale
Incomplete fusion between septum primum and septum secundum leaves an opening on superior end of foramen ovale
ASD: Endocardial Cushion Defect
Foramen primum doesn’t close, leaving an open defect near the endocardial cushion. Most inferior ASD.
ASD: Secundum Type
Abnormally large foramen secundum, due to a short septum secundum or excessive resorption of the septum primum.
ASD: Sinus Venosus Type
Sinus venosus is not absorbed or incompletely resorbed into the right atrium. Can also be caused by abnormal development of the upper part of the septum secundum.
Membranous Ventricular Septum Defect
Failure of endocardial cushion tissue to fuse with the primordial IV septum and the bulbar septum.
Patent Ductus Arteriosus
Ductus arteriosus does not close and degenerate at birth , causing a left-to-right shunting of blood. Associated with premature birth, high altitude, hypoxia, and low birth weight.
Tetralogy of Fallot
Faulty migration of neural crest cells causing 4 problems: ventricular septum defect, pulmonary stenosis, right ventricular hypertrophy, and overriding aorta.
Transposition of Great Vessels
Switching of the aorta and the pulmonary trunk. Caused by faulty migration of neural crest cells, leading to the absence of the spiral-twist in the aorticopulmonary septum.
Persistent Truncus Arteriosus
Failure of neural crest cell migration, leading to no formation of the aorticopulmonary septum
Double Aortic Arch
Due to the persistence of the distal portion of the right dorsal aorta. Right arch is usually larger. Super rare.
Right Arch of Aorta
Due to the persistence of the right dorsal aorta, while the distal part of the left dorsal aorta involutes.
DiGeorge Syndrome
Caused by a microdeletion of 22q11.2 leading to issues in formation of 1st pharyngeal arch and 3rd and 4th pharyngeal pouches. Autosomal dominant. Most cases are de novo.
Treacher Collins Syndrome (Mandibulofacial Dysostosis)
Caused by mutation in the TC0F1 gene, leading to a failure of neural crest cell migration due to insufficient production of neural crest cells.
Anomalous Right Subclavian Artery
Can be caused by either abnormal involution of the right 4th pharyngeal artery or the right dorsal aorta cranial to 7th segmental artery, or the right dorsal aorta cranial to 7th segmental artery, a persistent distal part of the right dorsal artery, or differential growth shifting right subclavian artery cranially.
Coarctation of the Aorta
Thickening of the walls of the aorta causing a ring-like constriction. Cause is still unknown.
Persistent Pulmonary Hypertension
Occurs when pulmonary vascular resistance remains abnormally high after birth. Thus, right-to-left shunting of blood through fetal circulatory pathways continues.
Tangier Disease
Hereditary deficiency of HDL-C and apoA1, caused by a defective cholesterol ABC transporter (ABCA1)
Abetalipoproteinemia
Extremely low levels of chylomicrons, VLDL, and LDL, caused by deficiency of MTP.