CCLE Flashcards
Marfan syndrome is a _______ tissue disorder
connective
is a connective tissue disorder which is primarily caused by the mutations in the _____ gene which encodes a protein called ______.
FBN1, fibrillin-1
type of marfan syndrome
autosomal dominant
a swishing or whooshing
sound when blood irregularly flows over your heart valves
Heart murmur
sensations or feelings of racing or thumping heart.
palpitations
2 sounds of murmur
dub, lub
a condition when the fingers and toes are abnormally long and thin
Arachnodactyly
is a heart valve condition that occurs when the aortic valve fails to close properly.
Aortic regurgitation
creates images of the heart using high-frequency sound waves or ultrasound
Echocardiogram
The flaps on the valve might fail to open and close correctly in between heartbeats, which could result in blood leaking backward through the valve and into the left atrium
Mitral valve prolapse
The gene that encodes production for fibrillin-1
FBN1 Gene