Khuyến cáo (2023) của Liên chi Hội Tim mạch Tp. Hồ Chí Minh về chẩn đoán và điều trị bệnh van tim (Phần 4)

Trưởng ban: PGS.TS. PHẠM NGUYỄN VINH

Tham gia biên soạn: PGS.TS. HỒ HUỲNH QUANG TRÍ,

TS.BS. TRẦN VŨ MINH THƯ, BS CKII. LÊ THỊ ĐẸP,

BS CKII. TRẦN THỊ TUYẾT LAN, ThS.BS. HUỲNH THANH KIỀU,

ThS.BS. PHẠM ĐỖ ANH THƯ, BS CKI. PHẠM THỤC MINH THỦY

Biên tập: LƯƠNG BÍCH NHUNG, TRẦN THỊ THANH NGA

(…)

11. Tổng quan bệnh van ĐMC hai mảnh

Bệnh van động mạch chủ hai mảnh chiếm khoảng 0.5 – 2% dân số và nam gấp 2 – 3 lần nữ⁽⁵⁶⁾. Bệnh được mô tả lần đầu tiên bởi Leonardo da Vinci, từ cách đây hơn 500 năm. Giữa thế kỷ 19, Peacock mô tả những trường hợp hẹp hở van trên van động mạch chủ (ĐMC) chỉ có hai mảnh. Sau đó vào những năm 1880, Osler ghi nhận nguy cơ viêm nội tâm mạc nhiễm trùng cao hơn. Abbot báo cáo những trường hợp van ĐMC hai mảnh kèm hẹp eo ĐMC xuất hiện bóc tách ĐMC. Từ những báo cáo ban đầu đó, cùng với sự hiểu biết về mô học, phôi thai học của vùng van ĐMC và cung ĐMC cũng như một số cấu trúc khác có cùng nguồn gốc từ các tế bào mào thần kinh (Cardiac neural crest cells) và vùng tim thứ hai (second heart field), bệnh van ĐMC hai mảnh là bệnh của van động mạch chủ và bệnh của động mạch chủ.

Về sinh bệnh học, bệnh van ĐMC hai mảnh có thể biểu hiện chỉ hở van ĐMC hoặc chỉ hẹp van ĐMC hoặc cả hai. Trong một nghiên cứu phân tích tổng hợp gần đây theo dõi diễn tiến tự nhiên của van ĐMC hai mảnh, phình ĐMC chiếm khoảng 20 – 40% các trường hợp van ĐMC hai mảnh, có thể đơn độc hoặc kèm với bệnh lý van ⁽⁵⁶⁾. Do đó, bệnh nhân bệnh van ĐMC hai mảnh cần đánh giá cẩn thận cả van và động mạch chủ cũng như phải theo dõi suốt đời.

Quá trình hình thành cấu trúc van và thân ĐMC trong  giai đoạn phôi thai nhận điều hòa của một số gene, được biết đến là NOTCH-1, ACTA2, Fibillin-1, MMP… Trong đó, NOTCH-1 tham gia vào quá trình phân chia các mảnh van, nhờ vào tín hiệu NOTCH. Khiếm khuyết tín hiệu NOTCH làm ảnh hưởng quá trình chết theo chương trình khiến lá van phân thành hai mảnh thay vì ba mảnh. Đồng thời, giảm tín hiệu NOTCH cũng làm tăng tiết metalloproteinase 2 (MMP ‐ 2) và giảm mức chất ức chế mô metalloproteinase 2 (TIMP ‐ 2). Điều này dẫn đến sự thay đổi trong chất nền ngoại bào thành ĐMC, do đó làm giảm liên kết ngang giữa các sợi collagen; hậu quả làm tái cấu trúc thành ĐMC, dẫn đến phình ĐMC.

Về di truyền, ghi nhận khoảng 10% thế hệ thứ nhất có van ĐMC hai mảnh^(57,58). Đây là di truyền trội trên nhiễm sắc thể thường; tuy nhiên, độ thấm (penetrance) không hoàn toàn, biểu hiện không nhất quán. Trong một số nghiên cứu, nếu chỉ có một thành viên trong gia đình có van ĐMC hai mảnh, 9% thành viên thuộc thế hệ thứ nhất mắc bệnh, nếu từ 2 thành viên, tỉ lệ này tăng lên 24%^(59,60).

Trong phần khuyến cáo này chỉ đề cập đến bệnh van ĐMC hai mảnh ở người lớn. Đây cũng là bệnh tim bẩm sinh thường gặp ở người trưởng thành. Nhiều nghiên cứu gần đây cho thấy bệnh van động mạch chủ hai mảnh có kèm biểu hiện ở nhiều cơ quan: viêm động mạch thái đương, phình động mạch chủ bụng, nang thận, phình mạch máu não…

Có nhiều bảng phân loại van ĐMC hai mảnh. Gần đây, hai bảng phân loại được sử dụng nhiều nhất.

Hoặc dựa vào có gờ dính giữa các lá van hay không, số gờ dính cũng như vị trí dính của các lá van (xem Hình 5).

Hình 5. Phân loại van động mạch chủ hai mảnh⁽⁶¹⁾

Type 0: van ĐMC hai mảnh thật sự, không có gờ dính các lá van. Gồm hai loại Type 0 bên – mạch vành xuất phát từ 2 xoang riêng biệt, type 0 – trước sau – mạch vành xuất phát từ cùng một xoang

Type 1: có một gờ dính. Dính lá vành phải và lá vành trái (R-L) hoặc dính lá vành phải và lá không vành (R-N)

Type 2: có hai gờ dính. Dính giữa lá vành phải và lá vành trái; lá vành phải và lá không vành.

L : lá vành trái  – LM: Động mạch vành trái; N : lá không vành- R: lá vành phải, RCA: Động mạch vành phải

Hoặc dựa vào vị trí dính của lá van, cũng như hai lá van đều hay lệch. Gồm 3 type chính: (xem Hình 6).

1. 70 – 80% là type 1, dính của lá vành phải và vành trái (R – L),
2. Type 2 khoảng 20 – 30% là dính lá vành phải – lá không vành (R – N).
3. Hiếm gặp 1% là dính lá vành trái và lá không vành (L – N). Gờ (raphe) giữa các lá van.

Hình 6. Van động mạch chủ hai mảnh⁽⁶²⁾

Hàng trên từ trái sang phải: Van ĐM chủ hai mảnh type 1 dính lá vành P và lá vành T, gờ dính toàn bộ, 2 lá van không cân xứng; Van ĐMC hai mảnh type 2 dính 2 với gờ hoàn toàn và hai lá van không cân xứng; Van ĐMC hai mảnh type 3 với gờ hoàn toàn 2 lá van không cân xứng.

Hàng dưới từ trái sang phải: Van ĐMC hai mảnh type 1 với gờ dính toàn bộ, hai lá van đều; Van ĐMC hai mảnh type 1 2 lá đều và không có gờ; Van ĐMC hai mảnh (thật sự) type 1 với gờ không hoàn toàn, lá vành P và T chỉ dính nhau 1 phần.

L : lá vành trái  – N : lá không vành- R: lá vành phải

Van ĐMC hai mảnh thường bắt đầu thoái hoá, xơ hoá ở độ tuổi 20 và vôi hóa sau 40 tuổi. Hình thái học lá van như là có gờ hay không, sự cân xứng giữa 2 lá van, vị trí dính (lá vành phải – lá vành trái (R-L), lá vành phải – lá không vành (R-N) hay lá vành trái- lá không vành (L-N) giúp tiên lượng được diễn tiến bệnh của van và khả năng phình, dãn ĐMC. Ở trẻ em, type 2 (R-N) liên quan đến hẹp và hở van ĐMC, trong khi type 1 (R-L) thường kèm hẹp eo. Ở người lớn, khảo sát hình thái van cho nhiều kết quả khác nhau. Nhiều nghiên cứu cho kết quả khác nhau như là một số cho thấy type 1 (R-L) nhanh diễn tiến tới hẹp chủ, tuy nhiên một số khác thấy rằng hẹp chủ nhiều hơn nếu type 2 (R-N). Một số phương pháp mới trên cộng hưởng từ gần đây chứng minh hình thái van ĐMC, vị trí lá van nhỏ hơn và van ĐMC hai mảnh cân xứng hay không sẽ làm thay đổi dòng chảy và ảnh hưởng lên vị trí dãn, phình ĐMC không đối xứng ở bờ cong ngoài ĐMC lên, ở đoạn gần ĐMC lên hay ĐMC ngang.

11.1.  Chẩn đoán bệnh van ĐMC hai mảnh

11.1.1. Lâm sàng

Biểu hiện lâm sàng thay đổi từ không triệu chứng đến xuất hiện triệu chứng do biến chứng của bệnh. Người bệnh van ĐMC hai mảnh được phát hiện tình cờ khi khám kiểm tra sức khỏe (nghe âm thổi), khi tầm soát thành viên trong gia đình người có van ĐMC hai mảnh hoặc khi có bệnh tim bẩm sinh (hẹp eo ĐMC, hẹp trên van ĐMC, thông liên thất) hoặc trong hội chứng di truyền (Turner, Williams, Loeyz Diets, Marfan) hoặc khi bệnh đã có biến chứng (hẹp hay hở van ĐMC, dãn hay  phình ĐMC, viêm nội tâm mạc nhiễm trùng).

Một số trường hợp ở người trưởng thành đã có tiền căn can thiệp hoặc phẫu thuật sớm ở tuổi nhỏ vì hẹp van ĐMC nghiêm trọng (Critical AS) với biểu hiện sốc tim khi ống động mạch đóng đã được nong van trong thời kỳ sơ sinh, hoặc đã ghi nhận sửa van/ thay van do hẹp van, hở van ở độ tuổi trẻ em và thanh thiếu niên.

Bệnh có thể biểu hiện triệu chứng của hẹp, hở van ĐMC mạn tính tăng dần đến khi hẹp, hở van nặng với biểu hiện khó thở, đau ngực, ngất…Một số trường hợp xuất hiện triệu chứng khi có bóc tách ĐMC bao gồm: khởi phát cơn đau cấp tính, đau như xé, lan sau lưng, lên cổ, xuống bụng. Ngoài ra có thể còn có ho ra máu (vỡ vào khí quản), xuất huyết tiêu hóa (vỡ vào thực quản). Một vài trường hợp khác, bệnh nhân có thể xuất hiện triệu chứng đầu tiên với bệnh cảnh viêm nội tâm mạc nhiễm trùng như sốt kéo dài, xuất hiện âm thổi mới hoặc thay đổi so với trước.

Do đó, khi thăm khám, tùy theo diễn tiến của bệnh, biến chứng trên van hoặc ĐMC mà khi khám nghe được âm thổi ở tim (do hẹp hoặc hở van ĐMC), phát hiện các dấu hiệu ngoại biên của hẹp hoặc hở van ĐMC (xem thêm phần về hẹp/ hở van ĐMC) hoặc các bệnh kèm theo (hẹp eo ĐMC), cũng như các dấu hiệu bóc tách ĐMC đoạn gần như là mất mạch, âm thổi tâm trương của hở chủ, dấu thần kinh định vị khi có TBMMN…

10.1.2. Cận lâm sàng:

ECG: thay đổi tùy theo biến chứng: dày thất trái (hẹp van ĐMC + hẹp eo ĐMC), dãn thất trái (hở van ĐMC), blốc nhĩ thất (gặp khi có biến chứng vỡ phình ĐMC).

X quang ngực: hầu như cũng chỉ thay đổi khi có biến chứng. Bóng tim to (dãn thất trái) nếu suy tim. Dãn / phình cung ĐMC. Ngoài ra ở trẻ lớn, người lớn có thể có dấu khuyết sườn nếu hẹp eo ĐMC. Ở người lớn có thể quan sát thấy vôi hóa van ĐMC (rõ hơn trên phim nghiêng), vôi hóa vòng van (toàn bộ/ một phần).

Siêu âm tim qua thành ngực:

• Siêu âm tim qua thành ngực là phương tiện đầu tay trong chẩn đoán xác định bao gồm đánh giá giải phẫu van ĐMC cũng như huyết động . Một số trường hợp có thể sử dụng thêm siêu âm tim 3D/4D. Đo đạc kích thước ĐMC đầy đủ gồm vòng van, xoang Valsalva, điểm nối xoang ống (STJ) và ĐMC lên. Ngoài ra, kiểm tra eo ĐMC (bằng 2D, Doppler xung), ĐMC xuống, ĐMC bụng⁽⁵⁶⁾. Sử dụng siêu âm 2D – TM đánh giá cấu trúc van. Hình ảnh TM ngang van ĐMC: hình ảnh đóng van bất cân xứng là dấu hiệu gợi ý. Trong 2D: hình ảnh van mõm cá, hình elip, quan sát hình ảnh đóng mở của van để rõ số lá van, vị trí dính giữa các lá van, có gờ (raphe) hay không, vị trí raphe, hình ảnh vôi hóa lá van, vị trí xuất phát của động mạch vành.

Ngoài ra, đo đạc kích thước ĐMC là cần thiết trong chẩn đoán dãn hay phình ĐMC cũng như theo dõi diễn tiến bệnh: vòng van, xoang Valsalva, chỗ nối xoang ống ĐMC (STJ), ĐMC lên, ngang, eo, ĐMC ngực.

• Siêu âm Doppler: đánh giá hẹp/ hở van (theo các tiêu chuẩn của hẹp/ hở van ĐMC), phân độ hẹp, hở van ĐMC: nhẹ, trung bình, nặng, đánh giá chức năng tim, biến chứng dày hay dãn buồng tim.

Hình 7. Van ĐMC trên siêu âm tim ở mặt cắt cạnh ức trục ngang được đánh dấu như một mặt đồng hồ

Phân loại van ĐMC hai mảnh dựa trên vị trí dính của các lá van:

Type 1: dính lá vành P và lá vành T (R-L)– mép van ở vị trí 4-10, 5-11, 3-9 giờ.

Type 2: dính lá vành P và lá không vành (R-N) – mép van ở vị trí 1-7 giờ hoặc 12-6 giờ.

Type 3: dính lá không vành và lá vành T  (N-L)– mép van ở 2-8 giờ.

MSCT ngực và MRI tim: khi cần đánh giá toàn bộ cung ĐMC, khảo sát van trong trường hợp lá van vôi hóa nhiều hoặc hạn chế cửa sổ trên siêu âm.

Ngoài ra, siêu âm ĐMC bụng, siêu âm bụng tìm nang thận, đặc biệt là MRI sọ não không cản từ hoặc MSCT sọ não có cản quang nhằm đánh giá mạch máu não có phình hay không… cũng được quan tâm trong bệnh cảnh kèm theo thường gặp của van ĐMC hai mảnh. Từ đó, đặc biệt là phòng ngừa biến chứng vỡ phình mạch máu não hoặc bóc tách ĐMC bụng, cũng như có kế hoạch theo dõi lâu dài định kỳ.

Hình 8. Mô hình “hướng dẫn bệnh liên quan” để phát hiện phình động mạch chủ ngực yên lặng. Trong đó có bệnh van ĐMC hai mảnh. ⁽⁶³⁾

11.2. Điều trị và theo dõi:

11.2.1. Điều trị nội khoa: Trong quá trình theo dõi và chăm sóc bệnh nhân van ĐMC hai mảnh, mặc dù bệnh được xếp vào nguy cơ viêm nội tâm mạc nhiễm trùng trung bình, nhưng ở điều kiện Việt Nam, các bệnh nhân van ĐMC hai mảnh có biến chứng hẹp, hở van tim vẫn cần được theo dõi, chăm sóc da, khám răng miệng định kỳ. Nếu đã có tiền căn VNTMNT đã phẫu thuật / can thiệp cần phòng ngừa dựa trên loại phẫu thuật, vật liệu nhân tạo đã dùng. Lưu ý là bất cứ Bệnh nhân van ĐMC hai mảnh nào có sốt kéo dài CRNN hay biến chứng thuyên tắc đều cần phải loại trừ VNTMNT (Cấy máu, CRP, tốc độ máu lắng, siêu âm tim qua thành ngực/ qua thực quản). Đến nay, dù không thể đảo ngược diễn tiến bệnh nhưng ức chế men chuyển, ức chế thụ thể và ức chế beta vẫn được dùng làm chậm quá trình diễn tiến của hẹp/ hở van ĐMC, giảm tái cấu trúc tim cũng như điều trị trong thời gian chờ đợi can thiệp dãn / phình ĐMC.

Ngoài ra, bệnh van ĐMC hai mảnh là một thể bệnh tim bẩm sinh, theo khuyến cáo chung, người bệnh cần theo dõi suốt đời. Bác sĩ tim mạch nhi theo dõi, hướng dẫn và chăm sóc cũng như chuyển giao cho bác sĩ tim mạch người lớn để tiếp tục theo dõi sau này. Các vấn đề tái hẹp van, thoái hóa van, hở van, xì dò ống nối… là những vấn đề cần kế hoạch điều trị hợp lý.

Bệnh nhân cần được hướng dẫn về hoạt động thể lực, thể thao, đặc biệt trong giai đoạn vị thành niên và tuổi trẻ. Bệnh nhân nữ cũng cần được chăm sóc trong quá trình chuẩn bị mang thai, theo dõi trong thai kỳ và sau sinh. Trước mang thai, cần đánh giá ĐMC vì nguy cơ dãn thêm hoặc bóc tách ĐMC khi mang thai. Bệnh nhân cần phẫu thuật tim trước khi mang thai nếu đường kính ĐMC > 50 mm. Theo hướng dẫn ESC về bệnh tim bẩm sinh ở người lớn 2020, các phụ nữ có đường kính ĐMC > 50 mm hoặc > 45mm⁽¹⁾ cần tránh thai vì thai kỳ nguy cơ cao. Người bệnh cần tái khám gần trong suốt thai kỳ và đến 3 tháng sau sanh.  Về tiên lượng khi mang thai, bệnh van hai mảnh nếu kèm hẹp van ĐMC nhẹ – trung bình hoặc hở van ĐMC có triệu chứng NYHA I /II thường dung nạp tốt. Tuy nhiên, khi có hở van ĐMC nặng có triệu chứng hoặc rối loạn chức năng thất là yếu tố tăng nguy cơ tử vong mẹ và thai nhi do rối loạn nhịp tim, suy tim,… Đối với những trường hợp dãn lớn hoặc phình ĐMC thai phụ cần được thảo luận về chỉ định sinh mổ.

Hình 9. Hướng dẫn bệnh nhân tham gia thể thao/ Van ĐMC hai mảnh

11.2.2. Chỉ định phẫu thuật: Theo hướng dẫn từ Hội tim mạch Hoa Kỳ 2020⁽¹⁾ trong điều trị van ĐMC hai mảnh can thiệp trên van (xem Bảng 14) và phẫu thuật ĐMC (xem Hình 10).

Bảng 14. Khuyến cáo Sửa chữa hoặc thay van động mạch chủ trên van ĐMC hai mảnh⁽¹⁾

Bảng 15. Khuyến cáo thay động mạch chủ ở bệnh nhân van ĐMC hai mảnh⁽¹⁾

Hình 10. Hướng dẫn điều trị phẫu thuật ĐMC ở bệnh van ĐMC hai mảnh⁽¹⁾

Bảng 16. Khuyến cáo theo dõi người bệnh van ĐMC hai mảnh⁽¹⁾

TÀI LIỆU THAM KHẢO 

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