Archive Of Standardized Exam Questions: Marfan Syndrome

OVERVIEW

This page is dedicated to organizing various examples of standardized exam questions whose answer is Marfan syndrome. While this may seem a odd practice, it is useful to see multiple examples of how Marfan syndrome will be characterized on standardized exams (namely the boards and the shelf exams). This page is not meant to be used as a traditional question bank (as all of the answers will be the same), however seeing the classic “test” characterization for a disease is quite valuable.

KEY CHARACTERISTICS OF THIS CONDITION (ON EXAMS)

When it comes to standardized exams, each condition has its own “code” marked by key buzzwords, lab findings, clues, etc. If you are well versed in this code you will be able to more quickly identify the condition that is being discussed, and get the right answer on the exam you are taking. Below is the “code” for Marfan syndrome. 

  • Long/slender frame: long tapering fingers/toes may be present as well 
  • Chest abnormalities: precuts excavatum (dip in chest)
  • Hyperflexible joints 
  • Heart murmurs: can be aortic regurgitation, mitral valve prolapse 
  • Lens complications: the lens of the eye can be dislocated/undergo subluxation 
QUES TION EXAMPLES

Question # 1

 

Explanation # 1

 

Question # 2

 

Explanation # 2

 

TESTABLE FACTS ABOUT THIS CONDITION (BEYOND ITS IDENTIFICATION)

Many questions on standardized exams go beyond simply recognizing the underlying condition. Often there are specific testable facts regarding some aspect of the disease’s pathophysiology/management/clincial implications that are commonly asked. Some of these are listed below:

  • What is the cause of it? A mutation in the fibrillar-1 gene (FBN1) found on chromosome 15 which makes fibrillin. 
  • What is fibrillin? Glycoprotein that forms a sheath around elastin. 
  • What type of mutation? Autosomal dominant 
  • Complications: cystic medial necrosis of the aorta, aortic incompetence, dissecting aortic aneurysms, floppy mitral valves, and subluxation of lenses
  • Most deadly finding in this condition: aortic root dilation 

 

 

Page Updated: 04.02.2017