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Gènes + guidelines MCAS > Gènes > Flashcards

Gènes Flashcards

1
Q

Syndrome Long QT 1

A

KCNQ1
(perte de fonction courant potassique Iks)

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2
Q

Syndrome Long QT 2

A

KCNH2
(perte de fonction courant potassique Ikr)

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3
Q

Syndrome Long QT 3

A

SCN5A
(gain de fonction courant sodique Ina)

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4
Q

Brugada

A

SCN5A
(perte de fonction courant sodique Ina)

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5
Q

CPVT 1

A

RYR2
(gain de fonction)

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6
Q

CPVT 2

A

CASQ2

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7
Q

Short QT 1

A

KCNH2
(gain de fonction courant potassique Ikr)

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8
Q

Short QT 2

A

KCNQ1
(gain de fonction courant potassique Iks)

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9
Q

Short QT 3

A

KCNJ2
(gain de fonction courant potassique Ik1)

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10
Q

CMPH

A

MYBPC3
MYH7
TNNT2
TNNI3
TPM1

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11
Q

ARVC

A

PKP2
DSG2
TMEM43 (surtout Terre-Neuve, ICD précoce puberté chez H, 30 ans chez F)

Autosomal dominant le plus souvent
Autosomal récessif -> Naxos, Carvajal

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12
Q

Non compaction

A

ACTC1
MYBPC3 / MYH7 / TNNT2
ZASP

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13
Q

Cardiopathie dilatée

A

LMNA
SCN5A

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14
Q

Hémochromatose

A

Mutation gène HFE (chromosome 6) (mutations C282Y et H63D)

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15
Q

Amyloidose ATTR héréditaire

A

Amérique du Nord: Val122Ile

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16
Q

Complexe de CARNEY

A

PRKAR1A (autosomal dominant)
* Anomalie pigmentaire de la peau, myxome, schwannomes, tumeurs endocrines

17
Q

Holt-Oram

A

TBX5 (autosomal dominant)
* Anomalie des membres supérieurs + cardiopathies congénitales (CIA secundum)

18
Q

Marfan (AD)

A

FBN1
(Fibrilline-1)

19
Q

Loeys-Dietz (AD)

A

TGFBR1 ou 2
* Tortuosité artérielle, anévrismes cérébraux, anévrisme aorte, luette bifide, fente palatine, hypertélorisme

20
Q

Ehlers-Danlos type 4 (AD)

A

COL3A1

21
Q

Anévrysme aorte thoracique familial (AD)

A

MYH11

22
Q

Hypertension pulmonaire

A

BMPR2

23
Q

Syndrome DiGeorge (TdF)

A

Délétion 22q11

24
Q

Syndrome de Williams (sténose Ao supra-valvulaire)

A

Délétion 7q11.23
(gène ELN)

25
Q

Syndrome osthéoarthrite-anévrysme

A

SMAD3

26
Q

Syndrome thoracique familiale

A

TGFBR1
TGFBR2
TGFB2
MYH11
SMAD3

Gènes + guidelines MCAS (5 decks)

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