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Cardio-Genetics
Gunder readings from Genetics book
18
Nursing
Graduate
01/23/2013

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Cards

Term
A widening or bulging of the upper portion of the aorta. May occur at the descending thoracic, ascending or aortic arch.
Definition
Thoracic Aortic Aneurysm
Term
Approximately 20% of TAAD (thoracic aortic aneurysm and dissections) result from
Definition
Familial predisposition
Term
Abnormal CXR findings that may raise suspicion of TAAD. (thoracic aortic aneurysm and dissections)
Definition
Enlarge aortic knob, localized bulge, widened mediastinum, extension of aortic shadow, and aortic enlargement. Also loss of space between the aorta and Pulmonary artery are also indicative of an aneurysm.
Term
Initial screen for TAAD
Definition
CT
Term
What are the 4 P's of a dissection?
Definition
Pallor, pulselessness, paresthesias, and paralysis
Term
Most common mutations associated with TAAD
Definition
TAAD 1 mutations and ACTA2
Term
How often should first degree relatives of someone with TAAD be tested and how?
Definition
Annually with ECHO
Term
How often should the entire aorta be evaluated in first degree relatives?
Definition
Every 4-5 years by CT or MRI beginning at 6-7 years of age.
Term
Any condition where the heart muscle is dysfunctional
Definition
cardiomyopathy
Term
Characterized by an unexplained LVH that develops in the absence of other known causes
Definition
Familial Hypertrophic Cardiomyopathy formally IHSS
Term
Characterized by the replacement of normal heart muscle in the right ventricle with fibrous or fatty tissue
Definition
Arrythmogenic right ventricular dysplasia/cardiomyopathy
Term
The most common cause of sudden cardiac death in competitive athletes in the US
Definition
Hypertrophic Cardiomyopathy
Term
Second most common cause of sudden death and more common in those younger than 35
Definition
ARVD/C
Term
A striking clue that may suggest ARVD/C is..?
Definition
extra hearts sounds such as wide split S2,3 or 4.
Term
LVH may become evident in the second decade of life this is thought to be because of..?
Definition
puberty
Term
What is the increased risk of colon cancer with a first degree relative having it?
Definition
increased risk by 2-4.3 fold.
Term
Signs and symptoms of colorectal CA?
Definition
Blood in stool, weight loss with unknown reason, diarrhea not from illness, long periods of constipation, crampy abdominal pain, persistent decrease in caliber of stool, frequent feeling of distention, vomiting and continual lack of energy.
Term
What percentage of colorectal CA is familial?
Definition
15-30%
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