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Marfan Syndrom - "overview" description

Fibrillin-1 gene mutation (Autosomal Dominant)

--> connective tissue disorder affecting the skeleton, heart and eyes


What are the typical skeletal characteristics of a person with Marfan's syndrome?

--Tall with long extremities, long fingers
--Pectus excavatum
--Hypermobile joints (such that the thumb can be extended back to the wrist)


What are the cardiac manifestations of Marfan syndrome?

--incompetent aortic valve
--aortic aneurysms with dissection
--mitral valve prolapse (floppy mitral valve)--> mitral regurgitation


What are the ocular manifestations of Marfan syndrome?

--Dislocation of the lens (ectopia lentis)
--retinal tears and detachments
--increased risk for glaucoma


What is the presentation (auscultatory) of a mitral valve prolapse?

A mid-systolic click followed by a murmur


What is angina?

Chest pain that is due to myocardial ischemia, secondary to coronary artery narrowing or spasm.

This is reversible; there is no myocyte necrosis


What are the three types of angina you can have?

(1) stable
(2) unstable
(3) Prinzmetal


What is a key difference between stable and unstable angina?

stable angina is reversible chest pain that is not present at rest, while unstable angina is reversible chest pain that is present at rest.


What is the cause of stable angina? (and what is its definition/defining characteristic?)

usually due to atherosclerosis of coronary arteries with >70% stenosis.

stable angina is reversible chest pain that arises with exertion or emotional stress--with exertion, the decreased blood flow is not able to meet the metabolic demands of the heart.


What is the cause/defining characteristic of unstable angina?

unstable angina is due to rupture of an atherosclerotic plaque with thrombosis and *incomplete* occlusion of a coronary artery.


What is the cause of Prinzmetal angina?

this is due to coronary artery vasospasm that leads to episodic chest pain that is unrelated to exertion.

The vasospasm transiently but completely shuts off the blood supply to the myocardium it perfuses.


What is the classic presentation of angina?

(1) chest pain that lasts <20 minutes, radiates to the left arm and jaw
(2) diaphoresis
(3) shortness of breath


Why is angina associated with chest pain that lasts specifically less than 20 minutes?

This is about the length of time that the myocardium can withstand a lack of blood flow before irreversible injury and cell death occurs


What part of the heart is most susceptible to ischemic injury?



How would angina (stable, unstable, Prinzmetal) present on EKG?

Both stable and unstable angina would show ST segment depression due to subendocardial ischemia.

Prinzmetal angina would show transiet ST segment elevation due to *transmural* ischemia-->in Prinzmetal angina, blood supply is transiently cut off to the entire wall.


How would you treat angina (stable, unstable, Prinzmetal)?

Each of these types of angina can be relieved with nitroglycerin.

In Prinzmetal angina, you can also give calcium channel blockers, which can help relieve the coronary artery vasospasm


What are the known triggers of Prinzmetal angina?


*however, the trigger is often unknown