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Embryo Defects

Anatomy Unit 2 - Embryologic Defects

Dextrocardia Primitive ventricle moves to the right instead of the left causing the outflow tract to end up on the left side
Heterotaxia Any type of abnormal left-right development of some or all of the organs - general term for all such disorders
Situs Inversus Complete reversal of all the organs in the body
Situs ambiguous Reversal of some of the organs
Visceroatrial Heterotaxia Most severe form of heterotaxia where the heart and GI tract are asymmetrically oriented to one another - most severe form of heterotaxia
Atrial Septal Defects Cause left to right shunting to blood that increases bloodflow to the lungs. This leads to increased pulmonary resistance that causes the right ventricle to hypertrophy, eventually leading to a right to left shunt with cyanosis
Ostium Secundum Defect Atrial Septal Defect - Hole in atrial septum caused by excessive resorption of septum I or inadequate development of septum 2
Common Atria Atrial Septal Defect - No septum forms at all
Ostium Primum Defect Atrial Septal Defect - Failur of AV cushion cells to grow upward to form the AV septum and fill/close off the ostium primum
Ventricular Septal Defect Most are caused by a failure of the fiberous (membranous) tissue to close. Start as left to right shunt with, but eventually the right ventricle hypertrophies and leads to a right to left shunt (cyanosis)
Persistent Truncus Arteriosus Failure of the cushion cells to form and fuse the initial conotroncal ridges - cause a ventricular septal defect (due to the ridge normally contributes to fiberous portion of septum) where undivided truncus opens up into both the right & left ventricle
Tetralogy of Fallot Contruncal ridges form off-center from the midline causing an unequal division of the pulmonary trunk and aorta - leads to (1)VSD; (2)Narrowing of the pulmonary artery; (3)Overriding Aorta (enters both ventricles); (4)Right ventricle hypertrophy
Transposition of the Great Vessels Contruncal ridges fail to spiral causing the pulmonary trunk to attach to left ventricle and aorta to attach to right ventricle. VSD, ASD, and patent ductus arteriosus shunts allow for survival
Pulmonary Valvular Atresia Pulmonary semilunar valve is sealed shut leading to Right ventricle HYPOplasia. Leads to patent formaen ovale and ductus arteriosus in order to get blood to lungs
Aortic Valvular Stenosis Aortic semilunar valve narrows leading to HYPERtrophy of left ventricle (had to push agains more resistance). Eventually leads to cardiac failure and pulmonary hypertension
Aortic Valvular Atresia Aortic Semilunar valve is sealed shut causing the HYPOtrophy of left ventricle. Causes patent ductus arteriosus to get blood to aortic arch (and thus body) and right ventricle HYPERtrophy
Tricuspid Atresia Fushion of tricuspid valves causing a patent foramen ovale, VSD, HYPOtrophy of right ventricle, HYPERtrophy of left ventricle, and patent ductus arteriosus
Patent Ductus Arteriosus leads to 1/2 of the blood getting shunted to the lungs instead of the body - causes L ventricle HYPERtrophy (has to work 2x as hard to supply body!), R ventericle hypertension, and eventually heart failure
Preductal Coarctation of Aorta narrowing of aorta upstream of the ductus arteriosus - life-threatening decrease in blood flow to lower body!
Postductal Coarctation of Aorta narrowing of aorta downstream of ductus arteriousus - embryo shunts blood through right subclavian → internal thoracic → sup/inf epigastric. Embryos lives!
Abnormal Development of Right Subclavian Artery loss of 4th aortic arch and retention of connection to the dorsal aorta - causes R subclavian to originate downstream of left subclavian and wrap around behind the trachea and esophagus to get to the right side (can cause dysphagia)
Double Aortic Arch Right 4th aortic arch does not regress leading to a second aortic arch. Both arches surround esophagus and trachea and can cause difficulty breathing and swallowing
Right Aortic Arch Left aortic arch and left dorsal artery are lost and replaced by vessels of the right - leads to dysphagia due to right vessels crossing behind the esophagus
Interrupted aortic arch Both right and left 4th aortic arch are lost resulting in a patent ductus arteriosus carrying only deoxygentated blood to lower body!
Hirchsprung's Disease failure of vagal neural crest cells to migrate down to gut tube to form parasympathetic neurons - still have symp. causing chronic contraction of affected gut, preventing food from passing
Annular Pancreas 2 ventral buds form and surround the duodenum when they migrate to dorsal bud - can lead to a bowel obstruction
Left-Sided Colon results from colon rotating clockwise (normally rotates 270° counter-clock) - causes intestines to twist easily and form obstructions
Reverse Rotation gut correctly rotates 90° counter-clock but then rotates 180° clockwise when returning to the abdomen - causes duodenum to cross on top of transverse colon and possibly obstruct it!
Abnormal partitioning of anorectal region can lead to a small tube that dumps poop in the scrotum, a blind-end rectum (yesh!), a tube to the urethra in the penis, or a tube dumping poop into the vagina (eek!)
Meckel's Diverticulum vitelline duct fails to regress and persists as a lig, fistula, or diverticulum - can cause the gut to twist up easily to cause an obstruction of feces and cut off of blood supply!
Failure to Recanalize or Vascular accident of gut tube epithelium that normally thickens to obstruct the gut and later breaks down, fails to regress causing stenosis or atresia of the gut tube. Same effect caused by immune system damaging epipthelium when they clean up a BV that bursts during development
Omphalocele failure of gut loop to return into the abdominal cavity on the 10th week - instead it protrudeds from the umbilical ring, covered by amnion
Gastrocschisis gut loop herniates through body wall instead of the umbilical ring - often results from the the right umbilical vein getting all tangled up
Congential Diaphragmatic Hernia pleuroperitoneal membrane fails to form - causes abdominal contents to rupture into pleural cavity, press on lungs, and stunt their growth
Congenital Esophageal Atresia with Esophagotrachial Fistula baby chokes or vomits when it first attempts to nurse and an X-ray shows air in the GI tract. Accompanied and complicated by polyhydramnios due to baby not swallowing excess amniotic fluid
Created by: c.phill