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Absence of the pulmonary valve

MedGen UID:
78575
Concept ID:
C0265831
Congenital Abnormality
Synonym: Absent pulmonary valve
SNOMED CT: Absent pulmonary valve (6996004); Congenital absence of pulmonary valve (6996004); Congenital absence of pulmonic valve (6996004)
 
HPO: HP:0005134

Definition

Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries. [from HPO]

Conditions with this feature

Deletion of long arm of chromosome 18
MedGen UID:
96605
Concept ID:
C0432443
Disease or Syndrome
Monosomy 18q is a partial deletion of the long arm of chromosome 18 characterized by highly variable phenotype, most commonly including hypotonia, developmental delay, short stature, growth hormone deficiency, hearing loss and external ear anomalies, intellectual disability, palatal defects, dysmorphic facial features, skeletal anomalies (foot deformities, tapering fingers, scoliosis) and mood disorders.
Congenital heart defects, multiple types, 7
MedGen UID:
1714491
Concept ID:
C5394062
Congenital Abnormality
Multiple types of congenital heart defects-7 (CHTD7) is an autosomal dominant disorder with incomplete penetrance characterized mainly by tetralogy of Fallot but also including right-sided aortic arch, absent pulmonary valve, and other cardiac abnormalities (Jin et al., 2017, Reuter et al., 2019).

Professional guidelines

PubMed

Babaoğlu K, Doğan Y, Erdem S, Özbarlas N, Başar E, Uzun O
Anatol J Cardiol 2022 Sep;26(9):702-709. doi: 10.5152/AnatolJCardiol.2022.1461. PMID: 35943311Free PMC Article
Galindo A, Gutiérrez-Larraya F, Martínez JM, Del Rio M, Grañeras A, Velasco JM, Puerto B, Gratacos E
Ultrasound Obstet Gynecol 2006 Jul;28(1):32-9. doi: 10.1002/uog.2807. PMID: 16795129

Recent clinical studies

Etiology

Tan JS, Ren JM, Fan L, Wei Y, Hu S, Zhu SS, Yang Y, Cai J
Front Cell Infect Microbiol 2022;12:884298. Epub 2022 Jun 27 doi: 10.3389/fcimb.2022.884298. PMID: 35832381Free PMC Article
Chatrath N, Papadakis M
Heart 2022 Nov 24;108(24):1938-1944. doi: 10.1136/heartjnl-2021-319824. PMID: 35236765
Vos E, Leenders E, Werkman SR, Udink Ten Cate FEA, Draaisma JMT
Cardiol Young 2022 Jun;32(6):936-943. Epub 2021 Aug 12 doi: 10.1017/S1047951121003310. PMID: 34382536
Généreux P, Pibarot P, Redfors B, Mack MJ, Makkar RR, Jaber WA, Svensson LG, Kapadia S, Tuzcu EM, Thourani VH, Babaliaros V, Herrmann HC, Szeto WY, Cohen DJ, Lindman BR, McAndrew T, Alu MC, Douglas PS, Hahn RT, Kodali SK, Smith CR, Miller DC, Webb JG, Leon MB
Eur Heart J 2017 Dec 1;38(45):3351-3358. doi: 10.1093/eurheartj/ehx381. PMID: 29020232Free PMC Article
Kemp SV, Slebos DJ, Kirk A, Kornaszewska M, Carron K, Ek L, Broman G, Hillerdal G, Mal H, Pison C, Briault A, Downer N, Darwiche K, Rao J, Hübner RH, Ruwwe-Glosenkamp C, Trosini-Desert V, Eberhardt R, Herth FJ, Derom E, Malfait T, Shah PL, Garner JL, Ten Hacken NH, Fallouh H, Leroy S, Marquette CH; TRANSFORM Study Team *
Am J Respir Crit Care Med 2017 Dec 15;196(12):1535-1543. doi: 10.1164/rccm.201707-1327OC. PMID: 28885054

Diagnosis

Babaoğlu K, Doğan Y, Erdem S, Özbarlas N, Başar E, Uzun O
Anatol J Cardiol 2022 Sep;26(9):702-709. doi: 10.5152/AnatolJCardiol.2022.1461. PMID: 35943311Free PMC Article
Chatrath N, Papadakis M
Heart 2022 Nov 24;108(24):1938-1944. doi: 10.1136/heartjnl-2021-319824. PMID: 35236765
Vos E, Leenders E, Werkman SR, Udink Ten Cate FEA, Draaisma JMT
Cardiol Young 2022 Jun;32(6):936-943. Epub 2021 Aug 12 doi: 10.1017/S1047951121003310. PMID: 34382536
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S
Orphanet J Rare Dis 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. PMID: 20385007Free PMC Article
Shah PM, Raney AA
Curr Probl Cardiol 2008 Feb;33(2):47-84. doi: 10.1016/j.cpcardiol.2007.10.004. PMID: 18222317

Therapy

Tan JS, Ren JM, Fan L, Wei Y, Hu S, Zhu SS, Yang Y, Cai J
Front Cell Infect Microbiol 2022;12:884298. Epub 2022 Jun 27 doi: 10.3389/fcimb.2022.884298. PMID: 35832381Free PMC Article
Fender EA, Zack CJ, Nishimura RA
Heart 2018 May;104(10):798-806. Epub 2017 Dec 11 doi: 10.1136/heartjnl-2017-311586. PMID: 29229649Free PMC Article
Généreux P, Pibarot P, Redfors B, Mack MJ, Makkar RR, Jaber WA, Svensson LG, Kapadia S, Tuzcu EM, Thourani VH, Babaliaros V, Herrmann HC, Szeto WY, Cohen DJ, Lindman BR, McAndrew T, Alu MC, Douglas PS, Hahn RT, Kodali SK, Smith CR, Miller DC, Webb JG, Leon MB
Eur Heart J 2017 Dec 1;38(45):3351-3358. doi: 10.1093/eurheartj/ehx381. PMID: 29020232Free PMC Article
Kemp SV, Slebos DJ, Kirk A, Kornaszewska M, Carron K, Ek L, Broman G, Hillerdal G, Mal H, Pison C, Briault A, Downer N, Darwiche K, Rao J, Hübner RH, Ruwwe-Glosenkamp C, Trosini-Desert V, Eberhardt R, Herth FJ, Derom E, Malfait T, Shah PL, Garner JL, Ten Hacken NH, Fallouh H, Leroy S, Marquette CH; TRANSFORM Study Team *
Am J Respir Crit Care Med 2017 Dec 15;196(12):1535-1543. doi: 10.1164/rccm.201707-1327OC. PMID: 28885054
Cardoso R, Ansari M, Garcia D, Sandhu S, Brinster D, Piazza N
Catheter Cardiovasc Interv 2016 Feb 15;87(3):534-9. Epub 2015 Oct 20 doi: 10.1002/ccd.26235. PMID: 26481871

Prognosis

Nuri H, Virgone A
Multimed Man Cardiothorac Surg 2022 Nov 8;2022 doi: 10.1510/mmcts.2022.071. PMID: 36345972
Tan JS, Ren JM, Fan L, Wei Y, Hu S, Zhu SS, Yang Y, Cai J
Front Cell Infect Microbiol 2022;12:884298. Epub 2022 Jun 27 doi: 10.3389/fcimb.2022.884298. PMID: 35832381Free PMC Article
Ma XJ, Huang GY
Chin Med J (Engl) 2019 Sep 5;132(17):2105-2108. doi: 10.1097/CM9.0000000000000375. PMID: 31348032Free PMC Article
Généreux P, Pibarot P, Redfors B, Mack MJ, Makkar RR, Jaber WA, Svensson LG, Kapadia S, Tuzcu EM, Thourani VH, Babaliaros V, Herrmann HC, Szeto WY, Cohen DJ, Lindman BR, McAndrew T, Alu MC, Douglas PS, Hahn RT, Kodali SK, Smith CR, Miller DC, Webb JG, Leon MB
Eur Heart J 2017 Dec 1;38(45):3351-3358. doi: 10.1093/eurheartj/ehx381. PMID: 29020232Free PMC Article
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S
Orphanet J Rare Dis 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. PMID: 20385007Free PMC Article

Clinical prediction guides

Ma XJ, Huang GY
Chin Med J (Engl) 2019 Sep 5;132(17):2105-2108. doi: 10.1097/CM9.0000000000000375. PMID: 31348032Free PMC Article
Maron BJ, Rowin EJ, Udelson JE, Maron MS
JACC Heart Fail 2018 May;6(5):353-363. Epub 2018 Apr 11 doi: 10.1016/j.jchf.2017.09.011. PMID: 29655822
Généreux P, Pibarot P, Redfors B, Mack MJ, Makkar RR, Jaber WA, Svensson LG, Kapadia S, Tuzcu EM, Thourani VH, Babaliaros V, Herrmann HC, Szeto WY, Cohen DJ, Lindman BR, McAndrew T, Alu MC, Douglas PS, Hahn RT, Kodali SK, Smith CR, Miller DC, Webb JG, Leon MB
Eur Heart J 2017 Dec 1;38(45):3351-3358. doi: 10.1093/eurheartj/ehx381. PMID: 29020232Free PMC Article
Kemp SV, Slebos DJ, Kirk A, Kornaszewska M, Carron K, Ek L, Broman G, Hillerdal G, Mal H, Pison C, Briault A, Downer N, Darwiche K, Rao J, Hübner RH, Ruwwe-Glosenkamp C, Trosini-Desert V, Eberhardt R, Herth FJ, Derom E, Malfait T, Shah PL, Garner JL, Ten Hacken NH, Fallouh H, Leroy S, Marquette CH; TRANSFORM Study Team *
Am J Respir Crit Care Med 2017 Dec 15;196(12):1535-1543. doi: 10.1164/rccm.201707-1327OC. PMID: 28885054
Carrel T, Kadner A
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2016;19(1):59-62. doi: 10.1053/j.pcsu.2015.11.005. PMID: 27060045

Recent systematic reviews

van Agteren JE, Hnin K, Grosser D, Carson KV, Smith BJ
Cochrane Database Syst Rev 2017 Feb 23;2(2):CD012158. doi: 10.1002/14651858.CD012158.pub2. PMID: 28230230Free PMC Article
Cardoso R, Ansari M, Garcia D, Sandhu S, Brinster D, Piazza N
Catheter Cardiovasc Interv 2016 Feb 15;87(3):534-9. Epub 2015 Oct 20 doi: 10.1002/ccd.26235. PMID: 26481871

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