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|MainCategory=Genetics, Pathophysiology
|MainCategory=Genetics, Pathophysiology
|SubCategory=Vascular
|SubCategory=Vascular
|Prompt=A 15- year old female is brought to the physician’s office by the mother for complaints of abdominal pain. There is no history of trauma to any part of the body. Physical examination reveals delayed femoral pulses with respect to the brachial pulses and pulsatile vessels along the axilla and the ribs. The patient’s condition is likely to be seen with which one of the following?
|Prompt=A 15-year-old presents to the physician’s office for complaints of abdominal pain. There is no history of trauma to any part of her body. Physical examination reveals delayed femoral pulses, with respect to the brachial pulses and pulsatile vessels, along the axilla and the ribs. Which of the following conditions is the most likely diagnosis for the patient?
|Explanation=Diminished femoral pulses compared to the brachial pulses, pulsatile vessels along axilla and ribs in a young child/adult are characteristics of adult type congenital coarctation of the aorta. Turner syndrome (an XO sex chromosome disorder) is associated with coarctation of the aorta in females.
|Explanation= Delayed femoral pulses, with respect to the brachial pulses and pulsatile vessels, along the axilla and the ribs of a young patient, are characteristic of an adult type congenital coarctation of the aorta. Turner syndrome, an XO sex-chromosome abnormality resulting from nondisjunction in the sperm cells, is associated with coarctation of the aorta.
 
|EducationalObjectives= Delayed femoral pulses, with respect to the brachial pulses and pulsatile vessels, along the axilla and the ribs of a young patient, are characteristic of an adult type congenital coarctation of the aorta. Turner syndrome, an XO sex-chromosome abnormality resulting from nondisjunction in the sperm cells, is associated with coarctation of the aorta.
|References=
 
|AnswerA=[[Marfan syndrome]]
|AnswerA=[[Marfan syndrome]]
|AnswerAExp=Incorrect. Marfan syndrome is associated with [[aortic dissection|dissecting aortic aneurysms]] and [[aortic insufficiency|aortic valve incompetence]]. There may also be an associated [[mitral valve prolapse]]
|AnswerAExp= [[Marfan syndrome]] is often associated with [[aortic dissection|dissecting aortic aneurysms]] and [[aortic insufficiency|aortic valve incompetence]]. [[Marfan syndrome]] may also be associated with [[mitral valve prolapse]].
|AnswerB=[[Down syndrome]]
|AnswerB=[[Down syndrome]]
|AnswerBExp=Incorrect. Down syndrome is associated with [[endocardial cushion defect]]s that results in [[atrial septal defect]] and [[aortic valve regurgitation]]
|AnswerBExp= [[Down syndrome]] is often associated with [[endocardial cushion defect]]s, which results in [[atrial septal defect]] and [[aortic valve regurgitation]].
|AnswerC=[[Turner syndrome]]
|AnswerC=[[Turner syndrome]]
|AnswerCExp=Correct. See Explanation
|AnswerCExp= See Explanation.
|AnswerD=[[Friedreich's ataxia]]
|AnswerD=[[Friedreich's ataxia]]
|AnswerDExp=Incorrect. Friedreich’s ataxia is associated with [[hypertrophic cardiomyopathy]] and the femoral pulses are not affected in this case
|AnswerDExp= [[Friedreich’s ataxia]], often associated with [[hypertrophic cardiomyopathy]], does not impact the femoral pulses.
|AnswerE=[[Kartagener syndrome]]
|AnswerE=[[Kartagener syndrome]]
|AnswerEExp=Incorrect. Kartagener syndrome is due to a microtubulular dynein arm defect and is associated with situs invertus and not [[aortic coarctation]]. [[Infertility]], [[sinusitis|recurrent sinusitis]] and [[bronchiectasis]] result
|AnswerEExp= [[Kartagener syndrome]], due to a microtubulular [[dynein]] arm defect, is associated with [[situs inversus]], but not [[aortic coarctation]]. [[Kartagener syndrome]] often results in [[infertility]], [[sinusitis|recurrent sinusitis]], and [[bronchiectasis]].
|RightAnswer=C
|RightAnswer=C
|WBRKeyword=Delayed femoral pulses, brachial pulse, Pulsatile vessels
|WBRKeyword=Delayed femoral pulses, brachial pulse, Pulsatile vessels
|Approved=Yes
|Approved=Yes
}}
}}

Revision as of 15:39, 9 July 2014

 
Author [[PageAuthor::Ogheneochuko Ajari, MB.BS, MS [1]]]
Exam Type ExamType::USMLE Step 1
Main Category MainCategory::Genetics, MainCategory::Pathophysiology
Sub Category SubCategory::Vascular
Prompt [[Prompt::A 15-year-old presents to the physician’s office for complaints of abdominal pain. There is no history of trauma to any part of her body. Physical examination reveals delayed femoral pulses, with respect to the brachial pulses and pulsatile vessels, along the axilla and the ribs. Which of the following conditions is the most likely diagnosis for the patient?]]
Answer A [[AnswerA::Marfan syndrome]]
Answer A Explanation [[AnswerAExp::Marfan syndrome is often associated with dissecting aortic aneurysms and aortic valve incompetence. Marfan syndrome may also be associated with mitral valve prolapse.]]
Answer B [[AnswerB::Down syndrome]]
Answer B Explanation [[AnswerBExp::Down syndrome is often associated with endocardial cushion defects, which results in atrial septal defect and aortic valve regurgitation.]]
Answer C [[AnswerC::Turner syndrome]]
Answer C Explanation AnswerCExp::See Explanation.
Answer D [[AnswerD::Friedreich's ataxia]]
Answer D Explanation [[AnswerDExp::Friedreich’s ataxia, often associated with hypertrophic cardiomyopathy, does not impact the femoral pulses.]]
Answer E [[AnswerE::Kartagener syndrome]]
Answer E Explanation [[AnswerEExp::Kartagener syndrome, due to a microtubulular dynein arm defect, is associated with situs inversus, but not aortic coarctation. Kartagener syndrome often results in infertility, recurrent sinusitis, and bronchiectasis.]]
Right Answer RightAnswer::C
Explanation [[Explanation::Delayed femoral pulses, with respect to the brachial pulses and pulsatile vessels, along the axilla and the ribs of a young patient, are characteristic of an adult type congenital coarctation of the aorta. Turner syndrome, an XO sex-chromosome abnormality resulting from nondisjunction in the sperm cells, is associated with coarctation of the aorta.

Educational Objective: Delayed femoral pulses, with respect to the brachial pulses and pulsatile vessels, along the axilla and the ribs of a young patient, are characteristic of an adult type congenital coarctation of the aorta. Turner syndrome, an XO sex-chromosome abnormality resulting from nondisjunction in the sperm cells, is associated with coarctation of the aorta.
References: ]]

Approved Approved::Yes
Keyword WBRKeyword::Delayed femoral pulses, WBRKeyword::brachial pulse, WBRKeyword::Pulsatile vessels
Linked Question Linked::
Order in Linked Questions LinkedOrder::