Cardio Topics > Genetic > Flashcards

Genetic Flashcards

(12 cards)

Study These Flashcards
1
Q

Marfan gene mutation

A

Fibrillin-1

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2
Q

Hypoplastic left heart gene

A

NOTCH1

Also a/w BAV and other AV defects

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3
Q

Loeys Dietz syndrome gene

A

TGF—beta1

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4
Q

Lens dislocation

A

Marfan

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5
Q

Bifid uvula
Thin and velvety skin
Easy bruising

A

Loeys-Dietz

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6
Q

Translucent skin
Dystrophic scars
Intestinal rupture

A

Ehlers-Danlos

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7
Q

Long QT Type 1

Associated activity?
Genetic disturbance?

A

Swimming

Loss of function of potassium channel due to IKs mutation —> delay in membrane repolarization

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8
Q

Myosin heavy chain diseases (2)

A

Dilated CM

HCM

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9
Q

ARVC gene

A

Plakoglobin

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10
Q

Vascular EDS gene

A

COL3A

Others

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11
Q

CPVT gene

A

RyR2 Ryanidine receptor mutation leading to leaking Ca from SR —> elevated Ca

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12
Q

Holt-Oram syndrome associated with..

A

Secundum ASD

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