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Absent pulmonary valve syndrome
Other names	Congenital absence of the pulmonary valve and Pulmonary valve agenesis
Diagram of the human heart, with labels for chambers, valves, and blood vessels.
Specialty	Cardiology

Absent pulmonary valve syndrome (APVS) is a congenital heart defect that occurs when the flaps of the pulmonary valve do not develop or are severely underdeveloped (hypoplasia) resulting in aneurysms (dilation) of the pulmonary arteries and softening of the trachea and bronchi (tracheobronchomalacia). Usually, APVS occurs together with other congenital heart defects, most commonly ventricular septal defect and right ventricular outflow tract obstruction. It is sometimes considered a variant of Tetralogy of Fallot. The first case of absent pulmonary valve syndrome was reported Crampton in 1830.

Signs and symptoms

Symptoms include respiratory distress and variable cyanosis. Rarely, patients will present as asymptomatic.

Causes

The most typical form of APVS is a tetralogy of Fallot variant, however, case studies have linked APVS to several different congenital cardiac syndromes, such as agenesis of ductus arteriosus, persistent ductus arteriosus, atrioventricular septal defect, pulmonary branching abnormalities, transposition of the great arteries, and type B interrupted aortic arch. About 25% of cases of absent pulmonary valve have been linked to chromosomal abnormalities, such as deletions on chromosomes 6 and 7, Trisomy 13, and Trisomy 21. About 25% of cases have a 22q11 microdeletion linked to it.

Outcome

APVS has a poor prognosis. In addition to heart issues, the majority of newborns experience respiratory distress-related problems. Massive lobar emphysema may result from the compression of bronchi by dilated pulmonary arteries, which typically causes respiratory distress. The pulmonary artery's infundibulum's orientation regulates the pulmonary arteries' preferred dilatation as well. Infundibulum is typically vertical and brief. When the infundibulum in APVS is oriented horizontally and to the right, it causes the right pulmonary artery to dilate aneurysmally, further compressing the middle lobe bronchus. A left-oriented infundibulum causes the left pulmonary artery to dilate aneurysmically, compressing the left main and upper lobe bronchus.

See also

• Tetralogy of Fallot
• Pulmonary Atresia

References

1. Nölke, Lars; Azakie, Anthony; Anagnostopoulos, Petrous V.; Alphonso, Nelson; Karl, Tom R. (May 2006). "The Lecompte Maneuver for Relief of Airway Compression in Absent Pulmonary Valve Syndrome". The Annals of Thoracic Surgery. 81 (5): 1802–1807. doi:10.1016/j.athoracsur.2005.12.001. ISSN 0003-4975. PMID 16631676.
2. Crampton, J. D (1930). "Case of an anomalous state of the heart". Dub Med Trans. 1 (34).
3. Zucker, Nili; Rozin, Ilya; Levitas, Aviva; Zalzstein, Eli (January 21, 2005). "Clinical presentation, natural history, and outcome of patients with the absent pulmonary valve syndrome". Cardiology in the Young. 14 (4): 402–408. doi:10.1017/S1047951104004093. ISSN 1467-1107. PMID 15680047. S2CID 22412300. Retrieved December 28, 2023.
4. Ra, Miller (1962). "Congenital absence of the pulmonary valve. The clinical syndrome of tetralogy of Fallot with pulmonary regurgitation". Circulation. 26: 266–278. doi:10.1161/01.cir.26.2.266. ISSN 0009-7322. PMID 14474089.
5. GC, Emmanoulides; B, Thanopoulos; B, Siassi; M, Fishbein (1976). ""Agenesis" of ductus arteriosus associated with the syndrome of tetralogy of Fallot and absent pulmonary valve". The American Journal of Cardiology. 37 (3): 403–409. doi:10.1016/0002-9149(76)90290-3. ISSN 0002-9149. PMID 1258771. Retrieved December 28, 2023.
6. Thanopoulos, B D; Fisher, E A; Hastreiter, A R (June 1, 1986). "Large ductus arteriosus and intact ventricular septum associated with congenital absence of the pulmonary valve". Heart. 55 (6): 602–604. doi:10.1136/hrt.55.6.602. ISSN 1355-6037. PMC 1236770. PMID 3718801. Retrieved December 28, 2023.
7. A, Giamberti; NN, Kalis; RH, Anderson; MR, de Leval (2001). "Atrioventricular septal defect with 'absent' pulmonary valve in the setting of Down's syndrome: a rare association". European Journal of Cardio-Thoracic Surgery. 20 (6): 1252–1254. doi:10.1016/s1010-7940(01)01018-1. ISSN 1010-7940. PMID 11717042.
8. P, Presbitero; E, Pedretti; F, Orzan; D, Malara; M, Villani; P, Ferrazzi; G, Crupi; L, Parenzan (1984). "Absent pulmonary valve syndrome with associated anomalies of the pulmonary blood supply". International Journal of Cardiology. 6 (5): 587–596. doi:10.1016/0167-5273(84)90004-4. ISSN 0167-5273. PMID 6500749. Retrieved December 28, 2023.
9. M, Rabinovitch; S, Grady; I, David; R, Van Praagh; U, Sauer; K, Buhlmeyer; AR, Castaneda; L, Reid (1982). "Compression of intrapulmonary bronchi by abnormally branching pulmonary arteries associated with absent pulmonary valves". The American Journal of Cardiology. 50 (4): 804–813. doi:10.1016/0002-9149(82)91238-3. ISSN 0002-9149. PMID 7124639. Retrieved December 28, 2023.
10. G, Oppido; A, Carotti; SB, Albanese; A, Amodeo; L, Pasquini; RM, Di Donato (2001). "Transposition with absent pulmonary valve syndrome: early repair of a rare case". The Annals of Thoracic Surgery. 71 (5): 1686–1688. doi:10.1016/s0003-4975(00)02310-9. ISSN 0003-4975. PMID 11383828. Retrieved December 28, 2023.
11. C, Mignosa; DG, Wilson; A, Wood; CR, Kirk; F, Musumeci (1998). "Absent pulmonary valve syndrome with interrupted aortic arch". The Annals of Thoracic Surgery. 66 (1): 244–246. doi:10.1016/s0003-4975(98)00379-8. ISSN 0003-4975. PMID 9692474. Retrieved December 28, 2023.
12. P, Volpe; D, Paladini; M, Marasini; AL, Buonadonna; MG, Russo; G, Caruso; A, Marzullo; P, Arciprete; P, Martinelli; M, Gentile (2004). "Characteristics, associations and outcome of absent pulmonary valve syndrome in the fetus". Ultrasound in Obstetrics & Gynecology. 24 (6): 623–628. doi:10.1002/uog.1729. ISSN 0960-7692. PMID 15386602. S2CID 27727731. Retrieved December 28, 2023.
13. Grewal, D.S.; Chamoli, S.C.; Saxena, Sudhir (2014). "Absent pulmonary valve syndrome – Antenatal diagnosis". Medical Journal, Armed Forces India. 70 (2): 198–200. doi:10.1016/j.mjafi.2013.07.002. PMC 4017172. PMID 24843213.

Further reading

• MA, Nørgaard; N, Alphonso; AE, Newcomb; CP, Brizard; AD, Cochrane (2006). "Absent pulmonary valve syndrome. Surgical and clinical outcome with long-term follow-up". European Journal of Cardio-Thoracic Surgery. 29 (5): 682–687. doi:10.1016/j.ejcts.2006.01.050. ISSN 1010-7940. PMID 16520058.
• Sica, Domenic A.; Townsend, Raymond R.; Badheka, Apurva O.; Schreiber, Theodore; Lozano-Balseiro, María; Bautista-Hernandez, Victor; Haas, Nikolaus A.; Ewert, Peter; Corno, Antonio F.; Adachi, Iki; Fraser, Charles D. (May 1, 2014). "Long-Term Outcomes of Patients With Absent Pulmonary Valve Syndrome: 38 Years of Experience". The Annals of Thoracic Surgery. 97 (5): 1671–1677. doi:10.1016/j.athoracsur.2014.01.035. ISSN 0003-4975. PMID 24636707.
• JW, Brown; M, Ruzmetov; P, Vijay; MD, Rodefeld; MW, Turrentine (2006). "Surgical treatment of absent pulmonary valve syndrome associated with bronchial obstruction". The Annals of Thoracic Surgery. 82 (6): 2221–2226. doi:10.1016/j.athoracsur.2006.07.022. ISSN 1552-6259. PMID 17126138.

External links

• Mount Sinai
• The Royal Children's Hospital Melbourne

• Congenital heart defects
• Rare diseases