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Total absence of the pericardium

MedGen UID:
576786
Concept ID:
C0345140
Congenital Abnormality
Synonym: Congenital absence of the pericardium
SNOMED CT: Totally absent pericardium (253732001); Congenital absence of pericardium (253732001)
 
HPO: HP:0011629

Definition

No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy. [from HPO]

Term Hierarchy

Conditions with this feature

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
MedGen UID:
860891
Concept ID:
C4012454
Congenital Abnormality
A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).

Recent clinical studies

Etiology

Li M, Qi L, Li Y, Zhang S, Lin L, Zhou L, Han W, Qu X, Cai J, Ye M, Shi K
Front Endocrinol (Lausanne) 2021;12:724859. Epub 2021 Sep 6 doi: 10.3389/fendo.2021.724859. PMID: 34552562Free PMC Article
Rodríguez-Mañero M, Kreidieh B, Al Rifai M, Ibarra-Cortez S, Schurmann P, Álvarez PA, Fernández-López XA, García-Seara J, Martínez-Sande L, González-Juanatey JR, Valderrábano M
JACC Clin Electrophysiol 2017 Mar;3(3):253-265. Epub 2016 Dec 21 doi: 10.1016/j.jacep.2016.09.014. PMID: 29759520Free PMC Article
Kim MJ, Kim HK, Jung JH, Yoon YE, Kim HL, Park JB, Lee SP, Kim YJ, Cho GY, Sohn DW, Oh JK
Heart 2017 Aug;103(15):1203-1209. Epub 2017 Mar 9 doi: 10.1136/heartjnl-2016-310870. PMID: 28280147
Talreja DR, Edwards WD, Danielson GK, Schaff HV, Tajik AJ, Tazelaar HD, Breen JF, Oh JK
Circulation 2003 Oct 14;108(15):1852-7. Epub 2003 Sep 29 doi: 10.1161/01.CIR.0000087606.18453.FD. PMID: 14517161
Neville HL, Jaksic T, Wilson JM, Lally PA, Hardin WD Jr, Hirschl RB, Lally KP; Congenital Diaphragmatic Hernia Study Group
J Pediatr Surg 2003 Mar;38(3):522-4. doi: 10.1053/jpsu.2003.50092. PMID: 12632380

Diagnosis

Li M, Qi L, Li Y, Zhang S, Lin L, Zhou L, Han W, Qu X, Cai J, Ye M, Shi K
Front Endocrinol (Lausanne) 2021;12:724859. Epub 2021 Sep 6 doi: 10.3389/fendo.2021.724859. PMID: 34552562Free PMC Article
Kim MJ, Kim HK, Jung JH, Yoon YE, Kim HL, Park JB, Lee SP, Kim YJ, Cho GY, Sohn DW, Oh JK
Heart 2017 Aug;103(15):1203-1209. Epub 2017 Mar 9 doi: 10.1136/heartjnl-2016-310870. PMID: 28280147
Cao S, Jin S, Cao J, Shen J, Hu J, Che D, Pan B, Zhang J, He X, Ding D, Gu F, Yu Y
Int J Colorectal Dis 2015 Jan;30(1):1-10. Epub 2014 Oct 21 doi: 10.1007/s00384-014-2029-1. PMID: 25331029
Cuccuini M, Lisi F, Consoli A, Mancini S, Bellino V, Galanti G, Capaccioli L
Ital J Anat Embryol 2013;118(1):136-50. PMID: 23898583
Neville HL, Jaksic T, Wilson JM, Lally PA, Hardin WD Jr, Hirschl RB, Lally KP; Congenital Diaphragmatic Hernia Study Group
J Pediatr Surg 2003 Mar;38(3):522-4. doi: 10.1053/jpsu.2003.50092. PMID: 12632380

Therapy

Kim KH, Miranda WR, Sinak LJ, Syed FF, Melduni RM, Espinosa RE, Kane GC, Oh JK
JACC Cardiovasc Imaging 2018 Apr;11(4):534-541. Epub 2017 Oct 5 doi: 10.1016/j.jcmg.2017.06.017. PMID: 28917680Free PMC Article
Rodríguez-Mañero M, Kreidieh B, Al Rifai M, Ibarra-Cortez S, Schurmann P, Álvarez PA, Fernández-López XA, García-Seara J, Martínez-Sande L, González-Juanatey JR, Valderrábano M
JACC Clin Electrophysiol 2017 Mar;3(3):253-265. Epub 2016 Dec 21 doi: 10.1016/j.jacep.2016.09.014. PMID: 29759520Free PMC Article
Santangeli P, Marchlinski FE, Zado ES, Benhayon D, Hutchinson MD, Lin D, Frankel DS, Riley MP, Supple GE, Garcia FC, Bala R, Desjardins B, Callans DJ, Dixit S
Circ Arrhythm Electrophysiol 2015 Apr;8(2):337-43. Epub 2015 Jan 30 doi: 10.1161/CIRCEP.114.002377. PMID: 25637596
Beshlawi I, Al Zadjali S, Bashir W, Elshinawy M, Alrawas A, Wali Y
Pediatr Blood Cancer 2014 Mar;61(3):528-31. Epub 2013 Nov 19 doi: 10.1002/pbc.24849. PMID: 24249281
Hellstrom WJ, Reddy S
J Urol 2000 May;163(5):1445-7. PMID: 10751854

Prognosis

Li M, Qi L, Li Y, Zhang S, Lin L, Zhou L, Han W, Qu X, Cai J, Ye M, Shi K
Front Endocrinol (Lausanne) 2021;12:724859. Epub 2021 Sep 6 doi: 10.3389/fendo.2021.724859. PMID: 34552562Free PMC Article
Rodríguez-Mañero M, Kreidieh B, Al Rifai M, Ibarra-Cortez S, Schurmann P, Álvarez PA, Fernández-López XA, García-Seara J, Martínez-Sande L, González-Juanatey JR, Valderrábano M
JACC Clin Electrophysiol 2017 Mar;3(3):253-265. Epub 2016 Dec 21 doi: 10.1016/j.jacep.2016.09.014. PMID: 29759520Free PMC Article
Kim MJ, Kim HK, Jung JH, Yoon YE, Kim HL, Park JB, Lee SP, Kim YJ, Cho GY, Sohn DW, Oh JK
Heart 2017 Aug;103(15):1203-1209. Epub 2017 Mar 9 doi: 10.1136/heartjnl-2016-310870. PMID: 28280147
Cao S, Jin S, Cao J, Shen J, Hu J, Che D, Pan B, Zhang J, He X, Ding D, Gu F, Yu Y
Int J Colorectal Dis 2015 Jan;30(1):1-10. Epub 2014 Oct 21 doi: 10.1007/s00384-014-2029-1. PMID: 25331029
Neville HL, Jaksic T, Wilson JM, Lally PA, Hardin WD Jr, Hirschl RB, Lally KP; Congenital Diaphragmatic Hernia Study Group
J Pediatr Surg 2003 Mar;38(3):522-4. doi: 10.1053/jpsu.2003.50092. PMID: 12632380

Clinical prediction guides

Pichler Sekulic S, Sekulic M
Virchows Arch 2022 Jun;480(6):1211-1221. Epub 2022 Jan 10 doi: 10.1007/s00428-022-03269-9. PMID: 35013774
Li M, Qi L, Li Y, Zhang S, Lin L, Zhou L, Han W, Qu X, Cai J, Ye M, Shi K
Front Endocrinol (Lausanne) 2021;12:724859. Epub 2021 Sep 6 doi: 10.3389/fendo.2021.724859. PMID: 34552562Free PMC Article
Weferling M, Vietheer J, Keller T, Fischer-Rasokat U, Hamm CW, Liebetrau C
J Invasive Cardiol 2021 Jan;33(1):E59-E64. doi: 10.25270/jic/20.00294. PMID: 33385988
Kim MJ, Kim HK, Jung JH, Yoon YE, Kim HL, Park JB, Lee SP, Kim YJ, Cho GY, Sohn DW, Oh JK
Heart 2017 Aug;103(15):1203-1209. Epub 2017 Mar 9 doi: 10.1136/heartjnl-2016-310870. PMID: 28280147
Sugiyama A, Izumi Y, Inoue Y, Aoki K, Fukuda H, Gika M, Nakayama M
Gen Thorac Cardiovasc Surg 2016 May;64(5):286-9. Epub 2014 Oct 4 doi: 10.1007/s11748-014-0482-y. PMID: 25281370

Recent systematic reviews

Rodríguez-Mañero M, Kreidieh B, Al Rifai M, Ibarra-Cortez S, Schurmann P, Álvarez PA, Fernández-López XA, García-Seara J, Martínez-Sande L, González-Juanatey JR, Valderrábano M
JACC Clin Electrophysiol 2017 Mar;3(3):253-265. Epub 2016 Dec 21 doi: 10.1016/j.jacep.2016.09.014. PMID: 29759520Free PMC Article

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