[SCD-FORUM] 107E Женщина 30-летнего возраста . Dr. Perez Riera

[SCD Symposium]

пёп╡п╟п╤п╟п╣п╪я▀п╧ Dr Yunlong Xia ,
п÷п╟я├п╦п╣п╫я┌п╨п╟ п©я─п╣п╢я│я┌п╟п╡п╩п╣п╫п╫п╟я▐ п▓п╟п╪п╦ п╦п╪п╣п╩п╟ я│п╩п╣п╢я┐я▌я┴п╦п╣ я┘п╟я─п╟п╨я┌п╣я─п╦я│я┌п╦п╨п╦:
1. п÷п╬п╩п╬п╤п╦я┌п╣п╩я▄п╫я▀п╧ я│п╣п╪п╣п╧п╫я▀п╧ п╟п╫п╟п╪п╫п╣п╥ п▓п║п║ (я┐ 4-я┘ я─п╬п╢я│я┌п╡п╣п╫п╫п╦п╨п╬п╡ п©п╣я─п╡п╬п╧ я│я┌п╣п©п╣п╫п╦). п≤п╪п╣я▌я┌я│я▐ я┌п╟п╨п╤п╣ п╫п╟я│п╩п╣п╢я│я┌п╡п╣п╫п╫я▀п╣ п╫п╟я─я┐я┬п╣п╫п╦я▐ п╡ п©я─п╬п╡п╬п╢я▐я┴п╣п╧ я│п╦я│я┌п╣п╪п╣. 
2. п·я┤п╣п╡п╦п╢п╫п╬ п╦п╪п╣я▌я┌я│я▐ п©я─п╬п╠п╩п╣п╪я▀ п╡п╫я┐я┌я─п╦п©я─п╣п╢я│п╣я─п╢п╫п╬п╧ (п©я─п╟п╢п╦п╨п╟я─п╢п╦я▐ п╬я│я┌п╟п╫п╬п╡п╨п╟ п©я─п╣п╢я│п╣я─п╢п╦я▐, п©п╟я─п╬п╨я│п╦п╥п╪я▀ п©я─п╣п╢я│п╣я─п╢п╫п╬пЁп╬ я┌я─п╣п©п╣я┌п╟п╫п╦я▐/я└п╦п╠я─п╦п╩п╩я▐я├п╦п╦) п╦ п╡п╫я┐я┌я─п╦п╤п╣п╩я┐п╢п╬я┤п╨п╬п╡п╬п╧ п©я─п╬п╡п╬п╢п╦п╪п╬я│я┌п╦. 
3. п╒я─п╣я┌п╦п╧ п╨п╩п╦п╫п╦я┤п╣я│п╨п╦п╧ п╨п╩п╟я│я│: я│п╦п╫п╨п╬п©п╣.
4. п⌡п╣пЁп╬я┤п╫п╟я▐ пЁп╦п©п╣я─я┌п╣п╫п╥п╦я▐ я│ п╢п╦п╩п╟я┌п╟я├п╦п╣п╧ п©я─п╟п╡я▀я┘ п╬я┌п╢п╣п╩п╬п╡ п╦ п╩п╣п╡п╬пЁп╬ п©я─п╣п╢я│п╣я─п╢п╦я▐. 
5. п╒п╦п©п╦я┤п╫п╟я▐ я│п╣п╪п╣п╧п╫п╟я▐ п╬я│я┌п╟п╫п╬п╡п╨п╟ п©я─п╣п╢я│п╣я─п╢п╦я▐. п╜я┌п╬ я─п╣п╢п╨п╬я│я┌п╫п╟я▐ п©п╟я┌п╬п╩п╬пЁп╦я▐, я┘п╟я─п╟п╨я┌п╣я─п╦п╥я┐я▌я┴п╟я▐я│я▐ п╬я┌я│я┐я┌я│я┌п╡п╦п╣п╪ я█п╩п╣п╨я┌я─п╦я┤п╣я│п╨п╬п╧ п╦ п╪п╣я┘п╟п╫п╦я┤п╣я│п╨п╬п╧ п©я─п╣п╢я│п╣я─п╢п╫п╬п╧ п╟п╨я┌п╦п╡п╫п╬я│я┌п╦, п╨п╬я┌п╬я─п╟я▐ п╪п╬п╤п╣я┌ п╠я▀я┌я▄ п©п╬п╩п╫п╬п╧ п╦п╩п╦ я┤п╟я│я┌п╦я┤п╫п╬п╧, п©я─п╣я┘п╬п╢я▐я┴п╣п╧ п╦п╩п╦ п©п╬я│я┌п╬я▐п╫п╫п╬п╧. 
п·я│я┌п╟п╫п╬п╡п╨п╟ п©я─п╣п╢я│п╣я─п╢п╦я▐ п╪п╬п╤п╣я┌ п╠я▀я┌я▄:
 
1. п©п╣я─п╡п╦я┤п╫п╬п╧;
2. я│п©п╬я─п╟п╢п╦я┤п╣я│п╨п╬п╧;
3. я│п╣п╪п╣п╧п╫п╬п╧: п╟я┐я┌п╬я│п╬п╪п╫п╬-п╢п╬п╪п╦п╫п╟п╫я┌п╫п╟я▐ я└п╬я─п╪п╟: п▓ п╩п╦я┌п╣я─п╟я┌я┐я─п╣ п╦п╪п╣п╣я┌я│я▐ п╪п╟п╩п╬ п╬п©п╦я│п╟п╫п╦п╧ п╢п╟п╫п╫п╬пЁп╬ п╥п╟п╠п╬п╩п╣п╡п╟п╫п╦я▐. п▒я▀п╩п╦ п©п╬п╨п╟п╥п╟п╫я▀ п╪я┐я┌п╟я├п╦п╦ п╡ пЁп╣п╫п╣ SCN5A п╫п╟я┌я─п╦п╣п╡п╬пЁп╬ п╨п╟п╫п╟п╩п╟ я│ п╢п╡я┐п╪я▐ п©п╬п╩п╦п╪п╬я─я└п╦п╥п╪п╟п╪п╦ connexin 40. п÷п╬п╨п╟п╥п╟п╫я▀ я┌п╟п╨п╤п╣ п╟я│я│п╬я├п╦п╟я├п╦п╦ я│ я│п╦п╫п╢я─п╬п╪п╬п╪ п▒я─я┐пЁп╟п╢п╟. п╒п╟п╨, Takehara п╦ я│п╬п╟п╡я┌ п╬п©п╦я│п╟п╩п╦ я│п╩я┐я┤п╟п╧ я│п╦п╫п╢я─п╬п╪п╟ п▒я─я┐пЁп╟п╢п╟ я│ я█п╩п╣п╡п╟я├п╦п╣п╧ я│п╣пЁп╪п╣п╫я┌п╟ ST п╡ п©я─п╟п╡я▀я┘ п©я─п╣п╨п╬я─п╢п╦п╟п╩я▄п╫я▀я┘ п╦ п╫п╦п╤п╫п╦я┘ п╬я┌п╡п╣п╢п╣п╫п╦я▐я┘ п╡ п╨п╬п╪п╠п╦п╫п╟я├п╦п╦ я│ п╬я│я┌п╟п╫п╬п╡п╨п╬п╧ п©я─п╣п╢я│п╣я─п╢п╦я▐ п╦ п√п╓. п·я│я┌п╟п╫п╬п╡п╨п╟ п©я─п╣п╢я│п╣я─п╢п╦я▐ п╦ я█п╩п╣п╡п╟я├п╦я▐ я┌п╬я┤п╨п╦ J п╠я▀п╩п╦ я│п©я─п╬п╡п╬я├п╦я─п╬п╡п╟п╫я▀ п©я─п╬п╨п╟п╦п╫п╦п╢п╬п╪. п⌠п╣п╫п╣я┌п╦я┤п╣я│п╨п╦п╧ п╟п╫п╟п╩п╦п╥ п©п╬п╨п╟п╥п╟п╩ п╪я┐я┌п╟я├п╦я▌ я┌п╦п©п╟ missense (R367H ) п╡ SCN5A . п²п╣п╨п╬я┌п╬я─я▀п╣ п╦я│я│п╩п╣п╢п╬п╡п╟п╫п╦я▐ п©п╬п╨п╟п╥я▀п╡п╟я▌, я┤я┌п╬ пЁп╣п╫п╣я┌п╦я┤п╣я│п╨п╦п╧ п╢п╣я└п╣п╨я┌ п╡  SCN5 A п╪п╬п╤п╣я┌ п©я─п╦п╡п╬п╢п╦я┌я▄ п╨ п╨п╬п╪п╠п╦п╫п╟я├п╦п╦ п©я─п╣п╢я│п╣я─п╢п╫п╬п╧ п╬я│я┌п╟п╫п╬п╡п╨п╦ п╦ я│п╦п╫п╢я─п╬п╪п╟ п▒я─я┐пЁп╟п╢п╟ (2). п°п╬п╧ п╢я─я┐пЁ п╢-я─  Hanno Tan п╫п╟п©п╦я│п╟п╩: я─п╟п╥п╩п╦я┤п╫я▀п╣ п╡п╩п╦я▐п╫п╦я▐, я│п╫п╦п╤п╟я▌я┴п╦п╣ п╫п╟я┌я─п╦п╣п╡я▀п╧ я┌п╬п╨ п╪п╬пЁя┐я┌ п╡я▀я▐п╡п╦я┌я▄ я│п╦п╫п╢я─п╬п╪ п▒я─я┐пЁп╟п╢п╟, п╫п╟я─я┐я┬п╣п╫п╦я▐ п©я─п╬п╡п╬п╢п╦п╪п╬я│я┌п╦, п©я─п╣п╢я│п╣я─п╢п╫я┐я▌ п╬я│я┌п╟п╫п╬п╡п╨я┐ п╦ п╫п╟я─я┐я┬п╣п╫п╦я▐ я│п╦п╫я┐я│п╬п╡п╬пЁп╬ я┐п╥п╩п╟. п╜я┌п╦ п╢п╣я└п╣п╨я┌я▀ п©я─п╦п╡п╬п╢я▐я┌ п╨ п©п╬п╡я▀я┬п╣п╫п╫п╬п╧ я┤я┐п╡я│я┌п╡п╦я┌п╣п╩я▄п╫п╬я│я┌п╦ п╨ п╟я─п╦я┌п╪п╦я▐п╪. п²п╣п╢п╟п╡п╫п╦п╣ п╦я│я│п╩п╣п╢п╬п╡п╟п╫п╦я▐ п©п╬п╨п╟п╥п╟п╩п╦ я│п╡я▐п╥я▄ п╪п╣п╤п╢я┐ я│п╫п╦п╤п╣п╫п╦п╣п╪ п╫п╟я┌я─п╦п╣п╡п╬пЁп╬ я┌п╬п╨п╟ п╦ я│я┌я─я┐п╨я┌я┐я─п╫я▀п╪п╦ я│п╣я─п╢п╣я┤п╫я▀п╪п╦ п╥п╟п╠п╬п╩п╣п╡п╟п╫п╦я▐п╪п╦, п╡я▀я─п╟п╤п╣п╫п╫я▀п╪ я└п╦п╠я─п╬п╥п╬п╪, п╢п╦п╩п╟я┌п╟я├п╦п╬п╫п╫п╬п╧ п╨п╟я─п╢п╦п╬п╪п╦п╬п©п╟я┌п╦п╣п╧ п╦ п╡п╬п╥п╪п╬п╤п╫п╬ п░п■п÷п√. п╜я┌п╦ п╫п╟п╠п╩я▌п╢п╣п╫п╦я▐ п©п╬п╢я┤п╣я─п╨п╦п╡п╟я▌я┌ п╡п╟п╤п╫п╬я│я
┌я▄ п╫п╟я┌я─п╦п╣п╡я▀я┘ п╨п╟п╫п╟п╩п╬п╡ п╡ п╩п╣я┤п╣п╫п╦п╦ я│п╣я─п╢п╣я┤п╫я▀я┘ п╥п╟п╠п╬п╩п╣п╡п╟п╫п╦п╧б╩ (3). 
4. п▓я┌п╬я─п╦я┤п╫п╬п╧:
4-1. п░п╫п╬п╪п╟п╩п╦я▐ п╜п╠я┬я┌п╣п╧п╫п╟. п·п╢п╫п╟п╨п╬ п©я─п╣п╢я│п╣я─п╢п╫п╟я▐ п╬я│я┌п╟п╫п╬п╡п╨п╟, п░п▓-п╠п╩п╬п╨п╟п╢п╟ п╫п╣ я▐п╡п╩я▐я▌я┌я│я▐ я┘п╟я─п╟п╨я┌п╣я─п╫я▀п╪п╦ п╢п╩я▐ я█я┌п╬п╧ п©п╟я┌п╬п╩п╬пЁп╦п╦ (4). 
4-2. п°я▀я┬п╣я┤п╫п╟я▐ п╢п╦я│я┌я─п╬я└п╦я▐ Emery-Dreifuss (я│п╡я▐п╥п╟п╫п╫п╟я▐ я│ п╔ я┘я─п╬п╪п╬я│п╬п╪п╬п╧).
4-3. п║п╦п╫п╢я─п╬п╪ Kugelberg -Welander (п╟я┐я┌п╬я│п╬п╪п╫п╬-я─п╣я├п╣я│я│п╦п╡п╫я▀п╧).
4-4. п≤п╫я└п╟я─п╨я┌ п╪п╦п╬п╨п╟я─п╢п╟.
4-5. п░п╪п╦п╩п╬п╦п╢п╬п╥.  
 
п■п╦п╟пЁп╫п╬п╥ п©я─п╣п╢я│п╣я─п╢п╫п╬п╧ п╬я│я┌п╟п╫п╬п╡п╨п╦ п╡п╨п╩я▌я┤п╟п╣я┌:
1.      п▒я─п╟п╢п╦п╨п╟я─п╢п╦я▌.
2.      п·я┌я│я┐я┌я│я┌п╡п╦п╣ п╥я┐п╠я├п╟ п═ п╡ я│я┌п╟п╫п╢п╟я─я┌п╫я▀я┘ п╬я┌п╡п╣п╢п╣п╫п╦я▐я┘ п╜п п⌠. 
3.      п÷я─п╣п╢я│п╣я─п╢п╫я▀п╧ п©п╟я─п╟п╩п╦я┤.
4.      п■п╦п╩п╟я┌п╟я├п╦я▐ п©я─п╣п╢я│п╣я─п╢п╦я▐.
5.      п▓п╬п╥п╪п╬п╤п╫п╟я▐ п©я─п╣п╢я│п╣я─п╢п╫п╟я▐ я└п╦п╠я─п╦п╩п╩я▐я├п╦я▐я▌
6.      п▓п╬п╥п╪п╬п╤п╫п╬ я┌я─п╣п©п╣я┌п╟п╫п╦п╣ п©я─п╣п╢я│п╣я─п╢п╦п╧.
7.      п°п╣п╢п╩п╣п╫п╫я▀п╣ п╡я▀я│п╨п╟п╩я▄п╥я▀п╡п╟я▌я┴п╦п╣ я─п╦я┌п╪я▀.
8.      п║п╦п╫п╨п╬п©п╣ п╩п╦ п©я─п╦я│я┌я┐п©я▀ Morgagni-Adams -Stokes (п╡ 50% я│п╩я┐я┤п╟п╣п╡).
9.      п÷п╬п╡я▀я┬п╣п╫п╫п╟я▐ я┤п╟я│я┌п╬я┌п╟ п╡я│я┌я─п╣я┤п╟п╣п╪п╬я│я┌п╦ я┌я─п╬п╪п╠п╬я┌п╦я┤п╣я│п╨п╦я┘ п╬я│п╩п╬п╤п╫п╣п╫п╦п╧ (п╨п╟п╨ я┐ п╬я┌я├п╟ п©п╟я├п╦п╣п╫я┌п╨п╦). 
10. пёп╡п╣п╩п╦я┤п╣п╫п╦п╣ я─п╟п╥п╪п╣я─п╬п╡ я│п╣я─п╢я├п╟, п╡я│п╩п╣п╢я│я┌п╡п╦п╣ п©п╣я─п╡п╦я┤п╫п╬п╧ п╢п╦п╩п╟я┌п╟я├п╦п╦ п©я─п╣п╢я│п╣я─п╢п╦п╧, я┤я┌п╬ я▐п╡п╩я▐п╣я┌я│я▐ я┘п╟я─п╟п╨я┌п╣я─п╦я│я┌п╦п╨п╬п╧ п©п╬п╩п╫п╬п╧ п╦ я┤п╟я│я┌п╦я┤п╫п╬п╧ я└п╬я─п╪ я│п╦п╫п╢я─п╬п╪п╟ я│п╣п╪п╣п╧п╫п╬п╧ п╬я│я┌п╟п╫п╬п╡п╨п╦ п©я─п╣п╢я│п╣я─п╢п╦п╧ (5). 
11. п·я│я┌п╟п╫п╬п╡п╨п╟ п©я─п╣п╢я│п╣я─п╢п╦п╧ я│п╬я┤п╣я┌п╟п╣я┌я│я▐ я│ я│п╦п╫п╨п╬п©п╣, п╢п╦п╩п╟я┌п╟я├п╦п╬п╫п╫п╬п╧ п╨п╟я─п╢п╦п╬п╪п╦п╬п©п╟я┌п╦п╣п╧ п╦ п▓п║п║ (6). 
 
п▓п╟я┬п╟ п©п╟я├п╦п╣п╫я┌п╨п╟ п╦ п╣п╣ я┤п╩п╣п╫я▀ я│п╣п╪я▄п╦ п╦п╪п╣я▌я┌ п╫п╣п╨п╬я┌п╬я─я▀п╣ п╦п╥ п╡я▀я┬п╣п©п╣я─п╣я┤п╦я│п╩п╣п╫п╫я▀я┘ я┘п╟я─п╟п╨я┌п╣я─п╦я│я┌п╦п╨. 
п═п╣п╨п╬п╪п╣п╫п╢я┐п╣п╪п╬п╣ п╩п╣я┤п╣п╫п╦п╣:
п░п╫я┌п╦п╨п╬п╟пЁя┐п╩я▐п╫я┌я▀.
п≤п╫пЁп╦п╠п╦я┌п╬я─я▀ п░п÷п╓.
п■п╦я┐я─п╣я┌п╦п╨п╦.
п≤п╪п©п╩п╟п╫я┌п╟я├п╦я▐ п╜п п║.
п▓ я│п╩я┐я┤п╟п╣ п╡п╬п╥п╫п╦п╨п╫п╬п╡п╣п╫п╦я▐ я┌я─п╣п©п╣я┌п╟п╫п╦я▐ п©я─п╣п╢я│п╣я─п╢п╦п╧ Б─⌠ п╩п╣я┤п╣п╫п╦п╣ я│ п©п╬п╪п╬я┴я▄я▌ п═п■п╖ п╟п╠п╩я▐я├п╦п╦ (7)
 
п▓п╬п╥п╪п╬п╤п╫п╬ п╩п╦ п╡п╬я│я│я┌п╟п╫п╬п╡п╩п╣п╫п╦п╣ я│п╬п╨я─п╟я┌п╦я┌п╣п╩я▄п╫п╬п╧ я└я┐п╫п╨я├п╦п╦ п╩п╣п╡п╬пЁп╬ п©я─п╣п╢я│п╣я─п╢п╦я▐?
п╞ п╢я┐п╪п╟я▐, я┤я┌п╬ п╫п╣я┌: я█я┌п╬ п©я─п╬пЁя─п╣я│я│п╦п╡п╫п╬п╣ я│п╣п╪п╣п╧п╫п╬п╣ п╥п╟п╠п╬п╩п╣п╡п╟п╫п╦п╣.
 
п²я┐п╤п╫п╬ п╩п╦ п©я─п╬п╡п╬п╢п╦я┌я▄ п╢п╟п╩я▄п╫п╣п╧я┬п╦п╣ п╢п╦п╟пЁп╫п╬я│я┌п╦я┤п╣я│п╨п╦п╣ п╦я│я│п╩п╣п╢п╬п╡п╟п╫п╦я▐?
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1)       Marini M, Arbustini E, Disertori M.Atrial standstill: a paralysis of cardiological relevance Ital Heart J Suppl. 2004;5:681-686. 
2)       Takehara N, Makita Nm Kawabe J et al. A cardiac sodium channel mutation identified in Brugada syndrome associated with atrial standstill. J Intern Med. 2004; 255:137-142. 
3)       Tan H. Sodium channel variants in heart disease: expanding horizons. J Cardiovasc Electrophysiol. 2006;17 Suppl 1:S151-S157.
4)       Carballal J, Asensio E, Hernandez R. et al. Ebstein's anomaly, atrial paralysis and atrio-ventricular block: an uncommon association. Europace. 2002; 4:451-454. 
5)       Disertori M, Guarneiro M, Vergara G, et al.Familial endemic persistent atrial standstill in a small mountain community: review of eight cases. Eur Heart J. 1983;4:354-361
6)       Fazelifar AF, Arya A, Haghjoo M, et al. Familial atrial standstill in association with dilated cardiomyopathy. Pacing Clin Electrophysiol. 2005;28:1005-1008. 
7)       Balaji S, Till J, Shinebourne EA, Familial atrial standstill with coexistent atrial flutter. Pacing Clin Electrophysiol. 1998;21:1841-1842.


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Andrц╘s Ricardo Pц╘rez Riera
Chief of Electro-Vectocardiology Sector of the Discipline of  Cardiology, ABC Faculty of Medicine (FMABC), Foundation of ABC (FUABC) - Santo Andrц╘ -  Sao Paulo - Brazil. Rua Sebastiao Afonso  885 - Zip Code: 044417-100- Jardim Miriam   S.P  Brazil- Phone: 5504-6243  Fax: 5506-0398