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Supravalvular pulmonary stenosis

MedGen UID:
481842
Concept ID:
C3280212
Congenital Abnormality; Disease or Syndrome
Synonym: Supravalvar pulmonary stenosis
 
HPO: HP:0034349
Monarch Initiative: MONDO:0017870
Orphanet: ORPHA3192

Definition

A cardiovascular malformation associated with narrowing at the level of the pulmonary sinotubular junction above the pulmonic valve. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSupravalvular pulmonary stenosis

Conditions with this feature

Legius syndrome
MedGen UID:
370709
Concept ID:
C1969623
Disease or Syndrome
Legius syndrome is characterized by multiple café au lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1 (NF1). Additional clinical manifestations reported commonly include intertriginous freckling, lipomas, macrocephaly, and learning disabilities / attention-deficit/hyperactivity disorder (ADHD) / developmental delays. Current knowledge of the natural history of Legius syndrome is based on the clinical manifestations of fewer than 300 individuals with a molecularly confirmed diagnosis; better delineation of the clinical manifestations and natural history of Legius syndrome will likely occur as more affected individuals are identified.
Cardiac, facial, and digital anomalies with developmental delay
MedGen UID:
1648330
Concept ID:
C4748484
Disease or Syndrome
CAFDADD is a multisystemic developmental disorder with variable cardiac and digital anomalies and facial dysmorphism. Some patients may have seizures and ocular/aural abnormalities (Tokita et al., 2018).
Atelis syndrome 2
MedGen UID:
1824055
Concept ID:
C5774282
Disease or Syndrome
Atelis syndrome-2 (ATELS2) is an autosomal recessive disorder characterized by poor overall growth with microcephaly and short stature, dysmorphic facial features, and congenital cardiac defects. Additional more variable features may include hematologic abnormalities, variable ocular abnormalities, motor delay, and anxiety. Patient cells exhibit a unique chromosomal instability phenotype consisting of segmented and dicentric chromosomes with mosaic variegated hyperploidy (Grange et al., 2022). See also ATELS1 (620184), caused by mutation in the SLF2 gene (610348). For a discussion of genetic heterogeneity of MVA, see MVA1 (257300).

Professional guidelines

PubMed

Patanè S, Marte F, Di Bella G, Di Tommaso E, Pagano GT, Coglitore S
Int J Cardiol 2009 Apr 3;133(2):e65-6. Epub 2008 Feb 21 doi: 10.1016/j.ijcard.2007.11.017. PMID: 18178275
Amaral F, Carvalho JS, Granzotti JA, Shinebourne EA
Arq Bras Cardiol 1999 Mar;72(3):307-20. doi: 10.1590/s0066-782x1999000300004. PMID: 10513042

Recent clinical studies

Etiology

Nakamura M, Kanno K, Nishioka M
Gen Thorac Cardiovasc Surg 2023 Aug;71(8):447-454. Epub 2022 Dec 30 doi: 10.1007/s11748-022-01902-7. PMID: 36583825
Abumehdi M, Mehta C, Afifi ARSA, Yong SF, Chaudhari M, Bhole V, Dhillon R, Stumper O
Catheter Cardiovasc Interv 2022 Apr;99(5):1538-1544. Epub 2022 Mar 9 doi: 10.1002/ccd.30148. PMID: 35266270
Poupart S, Navarro-Castellanos I, Raboisson MJ, Lapierre C, Dery J, Miró J, Dahdah N
Pediatr Cardiol 2021 Apr;42(4):814-820. Epub 2021 Jan 19 doi: 10.1007/s00246-021-02545-w. PMID: 33464372
Jatene MB, Jatene IB, Oliveira PM, Moysés RA, Souza LC, Fontes V, Miura N, Lopes AA, Marcial MB, Jatene AD
Arq Bras Cardiol 2008 Jul;91(1):17-24. doi: 10.1590/s0066-782x2008001300003. PMID: 18660940
Serraf A, Roux D, Lacour-Gayet F, Touchot A, Bruniaux J, Sousa-Uva M, Planche C
J Thorac Cardiovasc Surg 1995 Oct;110(4 Pt 1):892-9. doi: 10.1016/s0022-5223(05)80155-2. PMID: 7475154

Diagnosis

Daly H, Horchani A
Pan Afr Med J 2022;43:109. Epub 2022 Oct 28 doi: 10.11604/pamj.2022.43.109.32333. PMID: 36699971Free PMC Article
Abumehdi M, Mehta C, Afifi ARSA, Yong SF, Chaudhari M, Bhole V, Dhillon R, Stumper O
Catheter Cardiovasc Interv 2022 Apr;99(5):1538-1544. Epub 2022 Mar 9 doi: 10.1002/ccd.30148. PMID: 35266270
Poupart S, Navarro-Castellanos I, Raboisson MJ, Lapierre C, Dery J, Miró J, Dahdah N
Pediatr Cardiol 2021 Apr;42(4):814-820. Epub 2021 Jan 19 doi: 10.1007/s00246-021-02545-w. PMID: 33464372
Fujiyoshi T, Hoashi T, Kagisaki K, Kurosaki K, Shiraishi I, Ichikawa H
Pediatr Cardiol 2013 Oct;34(7):1711-5. Epub 2013 Apr 26 doi: 10.1007/s00246-013-0698-0. PMID: 23619830
Roberts N, Moes CA
J Pediatr 1973 May;82(5):838-44. doi: 10.1016/s0022-3476(73)80077-0. PMID: 4698958

Therapy

Nakamura M, Kanno K, Nishioka M
Gen Thorac Cardiovasc Surg 2023 Aug;71(8):447-454. Epub 2022 Dec 30 doi: 10.1007/s11748-022-01902-7. PMID: 36583825
Turon-Viñas A, Riverola-de Veciana A, Moreno-Hernando J, Bartrons-Casas J, Prada-Martínez FH, Mayol-Gómez J, Caffarena-Calvar JM
Rev Esp Cardiol (Engl Ed) 2014 Feb;67(2):114-9. Epub 2013 Nov 23 doi: 10.1016/j.rec.2013.06.017. PMID: 24795118
Habash S, Haas NA, Laser KT
Congenit Heart Dis 2014 Mar-Apr;9(2):E41-5. Epub 2013 Apr 22 doi: 10.1111/chd.12066. PMID: 23601034
Gençaslan M, Sahin DY, Koç M, Ballı M, Acıpayam M, Caylı M
Anadolu Kardiyol Derg 2011 Aug 7;11(5):E21. doi: 10.5152/akd.2011.125. PMID: 21733778
Yacoub MH, Bernhard A, Radley-Smith R, Lange P, Sievers H, Heintzen P
Circulation 1982 Aug;66(2 Pt 2):I193-7. PMID: 6211300

Prognosis

Nakamura M, Kanno K, Nishioka M
Gen Thorac Cardiovasc Surg 2023 Aug;71(8):447-454. Epub 2022 Dec 30 doi: 10.1007/s11748-022-01902-7. PMID: 36583825
Daly H, Horchani A
Pan Afr Med J 2022;43:109. Epub 2022 Oct 28 doi: 10.11604/pamj.2022.43.109.32333. PMID: 36699971Free PMC Article
Poupart S, Navarro-Castellanos I, Raboisson MJ, Lapierre C, Dery J, Miró J, Dahdah N
Pediatr Cardiol 2021 Apr;42(4):814-820. Epub 2021 Jan 19 doi: 10.1007/s00246-021-02545-w. PMID: 33464372
Jatene MB, Jatene IB, Oliveira PM, Moysés RA, Souza LC, Fontes V, Miura N, Lopes AA, Marcial MB, Jatene AD
Arq Bras Cardiol 2008 Jul;91(1):17-24. doi: 10.1590/s0066-782x2008001300003. PMID: 18660940
Serraf A, Roux D, Lacour-Gayet F, Touchot A, Bruniaux J, Sousa-Uva M, Planche C
J Thorac Cardiovasc Surg 1995 Oct;110(4 Pt 1):892-9. doi: 10.1016/s0022-5223(05)80155-2. PMID: 7475154

Clinical prediction guides

Nakamura M, Kanno K, Nishioka M
Gen Thorac Cardiovasc Surg 2023 Aug;71(8):447-454. Epub 2022 Dec 30 doi: 10.1007/s11748-022-01902-7. PMID: 36583825
Poupart S, Navarro-Castellanos I, Raboisson MJ, Lapierre C, Dery J, Miró J, Dahdah N
Pediatr Cardiol 2021 Apr;42(4):814-820. Epub 2021 Jan 19 doi: 10.1007/s00246-021-02545-w. PMID: 33464372
Serra G, Antona V, Corsello G, Zara F, Piro E, Falsaperla R
Ital J Pediatr 2019 Nov 8;45(1):138. doi: 10.1186/s13052-019-0718-7. PMID: 31703719Free PMC Article
Turon-Viñas A, Riverola-de Veciana A, Moreno-Hernando J, Bartrons-Casas J, Prada-Martínez FH, Mayol-Gómez J, Caffarena-Calvar JM
Rev Esp Cardiol (Engl Ed) 2014 Feb;67(2):114-9. Epub 2013 Nov 23 doi: 10.1016/j.rec.2013.06.017. PMID: 24795118
Jatene MB, Jatene IB, Oliveira PM, Moysés RA, Souza LC, Fontes V, Miura N, Lopes AA, Marcial MB, Jatene AD
Arq Bras Cardiol 2008 Jul;91(1):17-24. doi: 10.1590/s0066-782x2008001300003. PMID: 18660940

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