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

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

References

1. Kirshbom PM, Kogon BE. Tetralogy of Fallot with absent pulmonary valve syndrome. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu. 2004;7(1):65-71.
2. Amarillo IE, O’Connor S, Lee CK, Willing M, Wambach JA. De novo 9q gain in an infant with tetralogy of Fallot with absent pulmonary valve: Patient report and review of congenital heart disease in 9q duplication syndrome. Am J Med Genet A. 2015;167(12):2966-74.
3. Avdikos V, Johansson Ramgren J, Hanséus K, Malm T, Liuba P. Outcomes following surgical repair of absent pulmonary valve syndrome: 30 years of experience from a Swedish tertiary referral centre. Interact Cardiovasc Thorac Surg. 2022;35(2):ivac193.
4. Ilhan O, Gumus E, Hakan N, Istar H, Harmandar B, Olgun H, et al. A genotyped case of Townes-Brocks Syndrome with absent pulmonary valve syndrome from Turkey. J Pediatr Genet. 2021;13(2):139-43.
5. Chow OS, Hoganson DM, Kaza AK, Chávez M, Altin FH, Marx GR, et al. Early infant symptomatic patients with tetralogy of Fallot with absent pulmonary valve: Pulmonary artery management and airway stabilization. Ann Thorac Surg. 2020;110(5):1644-50.
6. Dorobantu DM, Stoicescu C, Tulloh RM, Stoica SC. Surgical repair of tetralogy of Fallot with absent pulmonary valve: Favorable long-term results. Semin Thorac Cardiovasc Surg. 2019;31(4):847-9.
7. Mcdonnell BE, Raff GW, Gaynor JW, Rychik J, Godinez RI, Decampli WM, et al. Outcome after repair of tetralogy of Fallot with absent pulmonary valve. Ann Thorac Surg. 1999;67(5):1391-6.
8. Yong MS, Yim D, Brizard CP, Robertson T, Bullock A, d’Udekem Y, et al. Long-term outcomes of patients with absent pulmonary valve syndrome: 38 years of experience. Ann Thorac Surg. 2014;97(5):1671-7.

9. Nørgaard MA, Alphonso N, Newcomb AE, Brizard CP, Cochrane AD. Absent pulmonary valve syndrome. Surgical and clinical outcome with long-term follow-up. Eur J Cardiothorac Surg. 2006;29(5):682-7.
10. Hew CC, Daebritz SH, Zurakowski D, del Nido PI, Mayer JE Jr, Jonas RA. Valved homograft replacement of aneurysmal pulmonary arteries for severely symptomatic absent pulmonary valve syndrome. Ann Thorac Surg. 2002;73(6):1778-85.