Tetralogy of Fallot with Absent Pulmonary Valve Syndrome: A Case Series

Year 2025, Volume: 27 Issue: 2, 219 - 222, 30.08.2025

Hande İştar , Buğra Harmandar

https://doi.org/10.18678/dtfd.1614737

Abstract

Tetralogy of Fallot (TOF) with absent pulmonary valve syndrome (APVS) is an extremely rare variant of TOF, with a ratio of 3-6%. Significant pulmonary insufficiency due to this valvular absence promotes dilation of the pulmonary arteries, and this can lead to airway compression during intrauterine life and after birth. The degree of compression is relative to the degree of hypoplasia of the respiratory tract. The severity of the respiratory problems indicates high mortality rates. This study aimed to present the short and mid-term outcomes following surgical repair of three TOF-APVS patients. One patient also had associated Townes-Brock Syndrome, which is extremely rare by itself. On follow-up, one patient could not be separated from cardiopulmonary bypass (CPB), and she was placed on arterio-venous extracorporeal membrane oxygenator (A-V ECMO) support before she died on the 5th day post-operatively. The patient with Townes-Brock syndrome died post-operatively 3.5th months due to pulmonary complications.

Keywords

Tetralogy of Fallot , absent pulmonary valve syndrome , pulmonary valved conduit

Fallot Tetralojisi ve Pulmoner Kapak Yokluğu Sendromu: Vaka Serisi

Abstract

Fallot tetralojisi (tetralogy of Fallot, TOF) ve pulmoner kapak yokluğu sendromu (absent pulmonary valve syndrome, APVS) TOF’un oldukça nadir olarak %3-6 oranında görülen bir varyantıdır. Kapakçık yokluğu nedenli gelişen belirgin pulmoner yetmezlik pulmoner arterlerin dilatasyonuna sebep olur ve bu durum da intrauterine yaşamda ve doğum sonrasında hava yolu basısına yol açar. Bası derecesi ve solunum yolu hipoplazisi derecesi arasında doğrudan ilişki mevcuttur. Eşlik eden solunum yolu problemlerinin ciddiyeti, yüksek mortaliteye yol açar. Bu çalışmanın amacı, cerrahi onarım yapılan üç TOF-APVS hastasının kısa ve orta dönem sonuçlarının sunulmasıdır. Bir hasta, kendi içinde de oldukça nadir görülen Townes-Brock sendromuna sahipti. Takipte, bir hasta kardiyopulmoner bypasstan (cardiopulmonary bypass, CPB) ayrılamadı ve arteriyo-venöz ekstrakorporeal membrane oksijenatörü (arterio-venous extracorporeal membrane oxygenator, A-V ECMO) desteğine bağlı olarak 5 gün takip edildikten sonra kaybedildi. Townes-Brock sendromuna sahip hasta, postoperatif 3,5 ay sonra, solunumsal komplikasyonlara bağlı olarak kaybedildi.

Keywords

Fallot tetralojisi , pulmoner kapak yokluğu , pulmoner kapaklı kondüit

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