Syndrome's Flashcards
Marfan's Turner's Cushing's Conn's
define Marfan’s syndrome
inherited disorder that affects the connective tissue
complications of Marfans
aneurysm
dissection
valve malformations
presentation of Marfan’s syndrome
- tall, long arms and fingers
- heart murmur
- pectus excavatum or pectus carinatum
diagnosis of marfans
- echocardiogram
- genetic testing
- eye pressure
management of marfans
- aortic repair
- breastbone corrections
- eye surgery
define Conn’s syndrome
excessive secretion of aldosterone (often adrenal gland tumour)
presentation of Conn’s syndrome
- high BP
- low potassium
- high renin and aldosterone
diagnosis of Conn’s
- oral salt loading test (high salt diet for 3 days then aldosterone and sodium levels are measured)
- CT scan
- adrenal vein sampling (measures aldosterone in both the adrenal veins)
management of Conn’s
- removal of tumour (if present)
- aldosterone blocking drugs e.g. mineralocorticoid receptor antagonists = spironolactone
define Cushing’s syndrome
pituitary tumour leading to excessive ACTH stimulating the adrenal cortex leading to high levels of cortisol
presentation of Cushing’s syndrome
- increased fast
- red, puffy, rounded face
- bruise easily
diagnosis of Cushing’s syndrome
- urine, blood and saliva for cortisol levels
management of Cushing’s syndrome
- stop steroids
- surgery to remove tumour, chemotherapy, radiotherapy
define Turner’s syndrome
45X where one X is missing in females
presentation of Turner’s syndrome
- low set ears
- wide neck
- small
