Cardiovascular System Flashcards
1
Q
Alagille Syndrome
A
2
Q
Brugada Syndrome
A
SCN5A (15-30% cases)
Cardiac Sodium Ion Channel (Na-v-1.5). Loss of Function
High risk of irregular heart rhythms beginning in the lower chambers of the heart that lead to syncope or noctural agonal breathing pattern. Results in sudden cardiac failure, and/or death primarily in adulthood. (Also: SIDS or sudden unexpected noctural death syndrome).
3
Q
Cardio-Facio-Cutaneous Syndrome
A
4
Q
Costello Syndrome
A
5
Q
Hereditary Hemorrhagic Telangiectasia
A
6
Q
Holt-Oram Syndrome
A
7
Q
Noonan Syndrome
A
8
Q
Noonan Syndrome with Multiple Lentigines (NSML)
A
9
Q
Williams Syndrome
A
