TS. PHẠM HỮU VĂN
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Bảng khuyến cáo 41 — Các khuyến cáo quản lý các bệnh nhân hội chứng QT dài
Các khuyến cáo | Classa | Levelb |
Chẩn đoán | ||
Khuyến cáo LQTS được chẩn đoán với hoặc QTc ≥ 480 ms trong ECG 12 chuyển đạo lặp lại có hoặc không có triệu chứng hoặc điểm chẩn đoán LQTS. [3]. |
I |
C |
Ở những bệnh nhân có LQTS được chẩn đoán lâm sàng, nên xét nghiệm di truyền và tư vấn di truyền. | I | C |
Khuyến cáo LQTS được chẩn đoán khi có đột biến gây bệnh, bất kể thời gian QT. | I | C |
Chẩn đoán LQTS nên được xem xét khi có QTc ≥ 460 ms và 480 ms trong ECG 12 chuyển đạo lặp lại ở bệnh nhân có
ngất do rối loạn nhịp tim khi không có nguyên nhân thứ phát kéo dài QT. [952,962,963] |
IIa | C |
Xét nghiệm chẩn đoán thường quy với thử thách epinephrine không được khuyến cáo trong LQTS. [137]] | III | C |
Khuyến cáo chung cho ngăn ngừa SCD | ||
Những điều sau đây được khuyến cáo trong LQTS:
• Tránh dùng thuốc kéo dài khoảng QT.c • Tránh và điều chỉnh các rối loạn điện giải. • Tránh các yếu tố kích hoạt đặc hiệu kiểu gen đối với rối loạn nhịp tim. [943] |
I |
C |
Thuốc chẹn beta, lý tưởng nhất là thuốc chẹn beta không chọn lọc (nadolol hoặc propranolol), được khuyến cáo ở những bệnh nhân LQTS có khoảng QT kéo dài được ghi nhận, để giảm nguy cơ xảy ra các biến cố loạn nhịp tim. [940,945,946] |
I |
B |
Mexiletine được chỉ định ở những bệnh nhân LQT3 có khoảng QT kéo dài. [948] | I | C |
Thuốc chẹn beta nên được xem xét ở những bệnh nhân có đột biến gây bệnh và khoảng QTc bình thường. [82] | IIa | B |
Phân tầng nguy cơ, dự phòng SCD và điều trị VA | ||
Cấy ICD cùng với thuốc chẹn beta được khuyến cáo ở bệnh nhân LQTS có CA. [952,953,962,963] | I | B |
Cấy ICD được khuyến cáo ở những bệnh nhân LQTS có triệu chứng trong khi đang dùng thuốc chẹn beta và các liệu pháp đặc hiệu kiểu gen. | I | C |
LCSD được chỉ định ở những bệnh nhân có LQTS có triệu chứng khi: (a) Liệu pháp ICD bị chống chỉ định hoặc bị từ chối; (b) bệnh nhân đang dùng thuốc chẹn beta và thuốc đặc hiệu kiểu gen với ICD và trải qua nhiều cú sốc hoặc ngất do VA. [541,957–959] | I | C |
Nên cấy ICD hoặc LCSD được xem xét ở những bệnh nhân có LQTS có triệu chứng d, khi thuốc chẹn beta và các liệu pháp điều trị đặc hiệu kiểu gen không được dung nạp hoặc chống chỉ định ở liều điều trị. | IIa | C |
Trong LQTS, cần cân nhắc tính toán nguy cơ rối loạn nhịp tim trước khi bắt đầu điều trị dựa trên kiểu gen và khoảng thời gian QTc. [940] | IIa | C |
Cấy ICD có thể được xem xét ở bệnh nhân LQTS không triệu chứng có hồ sơ nguy cơ cao (theo tính toán Nguy cơ 1-2-3 LQTS) thêm vào các trị liệu thuốc kiểu gene chuyên biệt (mexiletine ở bệnh nhân LQT3). [82,940,947,948] |
IIb |
B |
Nghiên cứu điện sinh lý xâm lấn không
được khuyến nghị trong LQTS. [961] |
III | C |
CA: ngừng tim; ECG: điện tâm đồ; ICD: máy khử rung tim có thể cấy; LCSD: bóc bỏ thần kinh giao cảm tim trái; LQTS: hội chứng QT dài; SCD: đột tử do tim; VA: rối loạn nhịp thất.
a Class khuyến cáo.
b Mức độ bằng chứng.
c http://www.crediblemeds.org
d Ngất do rối loạn nhịp tim hoặc VA không dung nạp được về mặt huyết động.
7.2.3. Hội chứng Andersen–Tawil Type 1
Hội chứng Andersen–Tawil type 1, cũng được phân loại là LQT7, là một bệnh hiếm gặp (1:1 000 000) được đặc trưng bằng ba triệu chứng chính: VA thường xuyên (ví dụ như VT hai chiều), rối loạn hình thái và liệt chu kỳ. [964–967] Dòng chỉnh lưu hướng vào trong (IK1) giảm do mất đột biến chức năng KCNJ2968 gây ra sự gia tăng biên độ sóng U thay vì kéo dài QT. [964,967–970] Ngất hoặc VT được ghi lại có liên quan đến VA đe dọa tính mạng, và một nghiên cứu cho thấy xác suất đe doạ tính mạng do VA trong 5 năm là 7,9%. [967] Ở những bệnh nhân có VT hoặc CA kéo dài không dung nạp được về mặt huyết động, nên sử dụng ICD. [964,967] Flecainide và/hoặc thuốc chẹn beta dường như làm giảm VA, [964,970,971] trong khi amiodarone có thể gây rối loạn nhịp tim và chỉ nên được sử dụng với ICD. [967] Ở những bệnh nhân bị ngất mặc dù đã điều trị nội khoa, nên thảo luận về ICD hoặc ILR. [967]
Bảng khuyến cáo 42 – Khuyến cáo cho quản lý bệnh nhân hội chứng Andersen–Tawil
Các khuyến cáo | Classa | Levelb |
Chẩn đoán | ||
Xét nghiệm di truyền được khuyến cáo ở những bệnh nhân có nghi ngờ hội chứng Andersen-Tawil. [964,967] |
I |
C |
Hội chứng Andersen-Tawil nên được xem xét ở những bệnh nhân không có SHD có ít nhất hai trong số những điều sau đây:
• Sóng U ưu thế có hoặc không có kéo dài khoảng QT • PVC/VT hai chiều và/hoặc đa hình • Đặc điểm dị hình • Liệt chu kỳ • KCNJ2 gây mất đột biến chức năng. [964,965,967,968,972] |
IIa |
C |
Phân tầng nguy cơ, phòng ngừa SCD và điều trị VA | ||
Cấy ICD được khuyến cáo ở bệnh nhân mắc hội chứng Andersen–Tawil sau CA được thoát hoặc VT dai dẳng không dung nạp. [964,967] |
I |
C |
Thuốc chẹn beta và/hoặc flecainide có hoặc không có acetazolamid nên được xem xét ở những bệnh nhân điều trị hội chứng Andersen–Tawil VA. [964,970] |
IIa |
C |
ILR nên được xem xét ở những bệnh nhân có Hội chứng Andersen-Tawil và không giải thích được ngất. |
IIa |
C |
Cấy ICD có thể được xem xét ở những bệnh nhân mắc hội chứng Andersen–Tawil, người có tiền sử ngất không giải thích được hoặc bị VT dai dẳng được dung nạp. [967] |
IIb |
C |
CA: ngừng tim; ICD: máy khử rung tim có thể cấy; ILR: Máy ghi vòng lặp có thể cấy; PVC: phức hợp tâm thất sớm; SCD: đột tử do tim; SHD: bệnh tim cấu trúc; VA: rối loạn nhịp thất; VT: nhịp nhanh thất.
a Class khuyến cáo.
b Mức độ bằng chứng
7.2.4. hội chứng Brugada
Mẫu ECG Brugada type 1 được đặc trưng bằng điểm J chênh lên > 2 mV với ST chênh lên và sóng T đảo ngược ở ít nhất một chuyển đạo ECG trước tim phải, V1 hoặc V2, đặt ở khoang liên sườn thứ hai, thứ ba hoặc thứ tư (Hình 32) ). Nó có thể xảy ra một cách tự nhiên hoặc do tiếp xúc với thuốc chẹn kênh natri hoặc sốt. [135,231,973–978] Bắt buộc phải loại trừ các điều kiện khác có thể giải thích kiểu mẫu type 1, được gọi là hiện tượng dạng giống bên ngoài (phenocopies). [979]
BrS được chẩn đoán ở những bệnh nhân không có bệnh tim khác và thuộc type 1 tự phát, bất kể triệu chứng, do hiếm gặp trong dân số nói chung và liên quan đến nguy cơ. [231.979.980] Mẫu type 1 cũng có thể được tạo ra bằng cách sử dụng thuốc chẹn kênh natri như một xét nghiệm chẩn đoán ở những bệnh nhân nghi ngờ có BrS ẩn giấu nhưng không có ECG type 1 tự phát. [135,136,231,387,973,978,981–985] Tuy nhiên, sự kích thích do thuốc hoặc sốt ít đặc hiệu hơn so với suy nghĩ trước đây, với tỷ lệ hiện mắc là 2–4% ở những người khỏe mạnh và tỷ lệ hiện mắc cao hơn ở những bệnh nhân có nhịp tim nhanh vào lại nút AV hoặc đường phụ trong một nghiên cứu. [977.978.986] Theo ý kiến của nhóm chuyên gia này, do đó, mẫu ECG type 1 được tạo ra đòi hỏi các đặc điểm lâm sàng khác, chẳng hạn như PVT/VF được ghi lại, ngất do rối loạn nhịp tim hoặc tiền sử gia đình có liên quan.
Hiệu suất xét nghiệm di truyền ở bệnh nhân BrS là khoảng 20%, với gen SCN5A là gen duy nhất có bằng chứng về mối liên quan cho mục đích thử nghiệm lâm sàng. [164.980] Sự không phù hợp về kiểu hình và kiểu gen được thấy ở các họ SCN5A, điều này được giải thích bằng các tác động khác nhau của mức độ nghiêm trọng của đột biến và điểm rủi ro đa gen bắt nguồn từ các nghiên cứu kết hợp trên toàn bộ gen. [170,979,987] Dữ liệu gần đây cũng hỗ trợ khả năng tiên lượng. [988,989]
Thuốc hướng tâm thần, thuốc AAD chọn lọc, thuốc gây mê, cocaine, uống quá nhiều rượu và sốt là những tác nhân có khả năng làm trầm trọng thêm mẫu type 1 và gây ra VF. [231,297] Nguy cơ VF tái phát ở bệnh nhân có biểu hiện CA là 48% sau 10 năm. Do đó, cấy ICD được chỉ định ở những bệnh nhân BrS có triệu chứng sống sót sau CA hoặc đã ghi nhận bệnh nhân có VA tự phát được chứng minh bằng tư liệu. (Hình 33). [980,990–994] Khoảng một phần ba số bệnh nhân BrS có biểu hiện ngất. [995] Nguy cơ xảy ra biến cố loạn nhịp ở bệnh nhân BrS bị ngất không giải thích được cao gấp 4 lần so với nguy cơ ở bệnh nhân không có triệu chứng. [155.990–992.994.996] Bệnh sử bệnh nhân chi tiết, gồm cả việc không có tiền triệu hoặc các yếu tố kích hoạt cụ thể, là điều cần thiết để phân biệt ngất do loạn nhịp tim và ngất không do loạn nhịp tim. Tuy nhiên, nguyên nhân gây ngất rất khó xác định ở 30% trường hợp bệnh nhân BrS. Trong các nghiên cứu nhỏ, rối loạn nhịp tim được phát hiện bằng ILR đã thay đổi cách xử trí lâm sàng ở 20–36% bệnh nhân BrS bị ngất không giải thích được. [997–999]
Bệnh nhân không có triệu chứng đại diện cho phần lớn bệnh nhân BrS mới được chẩn đoán với tỷ lệ mắc các biến cố rối loạn nhịp tim là 0,5% / năm. [1000,1001] Việc phân tầng nguy cơ vẫn còn nhiều thách thức. Mẫu ECG type 1 tự phát, cũng như các dấu hiệu ECG khác như mẫu tái cực sớm và QRS phân đoạn, có liên quan đến nguy cơ cao hơn. [980,992,1002,1003] Một số đã được đưa vào điểm nguy cơ, mặc dù tiện ích của chúng ở những bệnh nhân có nguy cơ trung bình vẫn còn thấp. [1004,1005] Các nghiên cứu về điện sinh lý vẫn còn gây tranh cãi. Một phân tích gộp đa trung tâm cho thấy việc tạo ra VA dai dẳng trong các nghiên cứu điện sinh lý có liên quan đến nguy cơ VA cao hơn trong tương lai. [155] Tuy nhiên, khả năng tạo ra có liên quan đến kết quả có thể áp dụng được trên lâm sàng chỉ ở những bệnh nhân không có triệu chứng với ECG dạng Brugada type 1 tự phát.
Trong trường hợp sốc ICD tái phát do VF, quinidine hoặc triệt phá qua catheter đã thành công trong việc giảm tần số sốc. [922,1006,1007] Truyền isoproterenol có thể ngăn chặn cơn bão điện. [1008] Trong vài nghiên cứu nhỏ, quinidin có hiệu quả trong việc giảm hoặc thậm chí ngăn ngừa khả năng gây rối loạn nhịp tim trong quá trình kích thích được lập trình. [922,1006,1007] Tuy nhiên, tác dụng phụ của quinidine có thể xảy ra ở 37% bệnh nhân và quinidine không thể tiếp cận được ở nhiều quốc gia. Cilostazol (chất ức chế phosphodiesterase-3) có thể thay thế cho quinidin. [1008] Dữ liệu lập bản đồ điện sinh lý liên quan đến các nghiên cứu mô bệnh học cho thấy chất nền gây rối loạn nhịp tim bất thường ở RVOT thượng tâm mạc là nguyên nhân gây ra đoạn ST chênh lên ở các chuyển đạo trước tim bên phải và xuất hiện VF ở bệnh nhân BrS. [1009] Việc triệt phá những vùng bất thường này có thể ức chế rõ rệt VF tái phát và bình thường hóa ECG ở > 75% bệnh nhân. [1009–1015] Ở những bệnh nhân có các cơn VF tái phát được kích hoạt bằng một PVC tương tự không đáp ứng với điều trị nội khoa, việc triệt phá qua catheter có thể nhắm vào PVC, thường nhất bắt nguồn từ hệ thống RVOT hoặc Purkinje. [1013] Tuy nhiên, dữ liệu liên quan đến việc theo dõi lâu dài sau khi triệt phá còn hạn chế, không có dữ liệu thử nghiệm cũng như bằng chứng về việc triệt phá ở bệnh nhân không có triệu chứng.
Hình 32. Các ví dụ điển hình của (A) điện tâm đồ Brugada type 1, và (B) điện tâm đồ kiểu tái cực sớm. ECG: Điện tâm đồ. Brugada type 1 pattern ECG: điện tâm đồ mẫu Brugada type 1. Early repolarization pattern ECG: điện tâm đồ mẫu tái cực sớm.
Bảng Khuyến cáo 43 Khuyến cáo dành cho quản lý bệnh nhân hội chứng Brugada
Các khuyến cáo | Classa | Levelb |
Chẩn đoán | ||
Khuyến cáo BrS được chẩn đoán ở bệnh nhân không có bệnh tim khác và
mẫu ECG Brugada type 1 tự phát. [974–976] |
I |
C |
Khuyến cáo BrS được chẩn đoán ở bệnh nhân không có bệnh tim khác sống sót sau CA do VF hoặc PVT và biểu hiện ECG Brugada type 1 khi thử thách dùng thuốc chẹn kênh natri hoặc khi bị sốt. [135,136,975,981,982] |
I |
C |
Khuyến cáo xét nghiệm di truyền tìm gen SCN5A cho các mẫu thử thành viên cùng gia đình (probands) có BrS. [164,1016] |
I |
C |
BrS nên được xem xét ở những bệnh nhân không có bệnh tim khác và mẫu Brugada type 1 gây ra và có ít nhất một trong số:
• Ngất do rối loạn nhịp tim hoặc thở ngắc ngoải về đêm (nocturnal agonal respiration) • Tiền sử gia đình mắc BrS • Tiền sử gia đình SD (< 45 tuổi) có khám nghiệm tử thi âm tính và tình huống đáng ngờ đối với BrS. |
IIa |
C |
BrS có thể được coi là một chẩn đoán trong bệnh nhân không có bệnh tim khác biểu hiện ECG Brugada type 1 được tạo ra (induced). [136,973,975,978,984,985] | IIb | C |
Xét nghiệm chẹn kênh natri không được khuyến cáo ở những bệnh nhân có mẫu Brugada type I trước đó. | III | C |
Khuyến cáo chung | ||
Những điều sau đây được khuyến nghị ở tất cả bệnh nhân mắc BrS:
(a) Tránh dùng các thuốc có thể gây ra Đoạn ST chênh lên ở vùng trước tim phải dẫn (http://www.brugadadrugs.org). (b) Tránh dùng cocaine, cần sa và uống quá nhiều rượu. c) Điều trị sốt bằng thuốc hạ sốt. |
I |
C |
Phân tầng nguy cơ, phòng ngừa SCD và điều trị VA cấy ICD được khuyến cáo ở những bệnh nhân có BrS:
(a) Là những người sống sót sau một CA bị hủy bỏ và/hoặc (b) Đã ghi nhận VT dai dẳng tự phát. [980,990–992] |
I |
C |
Cấy ICD nên được xem xét ở những bệnh nhân có mẫu Brugada type 1 và ngất do rối loạn nhịp tim. [990,992,996] | IIa | C |
Việc cấy máy ghi vòng lặp nên được xem xét ở những bệnh nhân BrS bị ngất không giải thích được. [997.999]
Quinidine nên được xem xét ở những bệnh nhân BrS đủ điều kiện cho ICD nhưng có chống chỉ định, suy giảm hoặc bị sốc ICD tái phát. [922,1006,1007] |
IIa |
C |
Nên cân nhắc truyền isoproterenol ở bệnh nhân BrS bị bão điện. [1008] | IIa | C |
Triệt phá qua catheter các PVC khởi phát và/hoặc chất nền thượng tâm mạc RVOT nên được xem xét ở những bệnh nhân BrS có sốc ICD tái phát thích hợp kháng trị với điều trị bằng thuốc. [1010–1015] |
IIa |
C |
PES có thể được xem xét ở những bệnh nhân không có triệu chứng với ECG BrS type I tự phát. [155] | IIb | B |
Cấy ICD có thể được xem xét ở những bệnh nhân BrS chọn lọc không triệu chứng có VF có thể tạo ra trong PES sử dụng tối đa 2 kích thích bên ngoài. [155] |
IIb |
C |
Triệt phá qua catheter ở bệnh nhân BrS không có triệu chứng không được khuyến cáo. | III | C |
BrS: hội chứng Brugada; CA: ngừng tim; ECG: điện tâm đồ; ICD: máy khử rung tim có thể cấy ghép; PES: kích thích điện được lập trình; PVC: phức hợp thất sớm; PVT: nhịp nhanh thất đa hình; RVOT, đường ra thất phải; SCD: đột tử do tim; SD: đột tử; VA: rối loạn nhịp thất; VF: rung tâm thất.
a Class khuyến cáo.
b Mức độ bằng chứng
Hình 33. Phần Một. Thuật toán quản lý bệnh nhân có điện tâm đồ mẫu Brugada
Hình 33 Phần hai. Thuật toán quản lý bệnh nhân có mẫu ECG Brugada. BrS: hội chứng Brugada; CA: ngừng tim; ECG: điện tâm đồ; ICD: máy khử rung tim có thể cấy; ILR: máy ghi vòng lặp có thể cấy; SADS, hội chứng đột tử do rối loạn nhịp tim; VA, rối loạn nhịp thất. aEcho, CMR, CT tim, CAG được chỉ định tùy theo biểu hiện lâm sàng của bệnh nhân và các yếu tố nguy cơ. b Khuyến cáo chung: tránh các thuốc có thể làm tăng đoạn ST ở chuyển đạo trước tim phải (http://www.brugadadrugs.org), tránh cocaine, uống nhiều rượu, điều trị sốt bằng thuốc hạ sốt.
(Còn nữa)
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