U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

MedGen UID:
346902
Concept ID:
C1858420
Disease or Syndrome
Synonym: Patent ductus arteriosus and bicuspid aortic valve with hand anomalies
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0011454
OMIM®: 604381
Orphanet: ORPHA228190

Definition

Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant. [from ORDO]

Clinical features

From HPO
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Short toe
MedGen UID:
322858
Concept ID:
C1836195
Finding
A toe that appears disproportionately short compared to the foot.
Short finger
MedGen UID:
334977
Concept ID:
C1844548
Anatomical Abnormality
Abnormally short finger associated with developmental hypoplasia.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Short 5th metacarpal
MedGen UID:
348858
Concept ID:
C1861388
Finding
Short fifth metacarpal bone.
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Bicuspid aortic valve
MedGen UID:
57436
Concept ID:
C0149630
Congenital Abnormality
Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta (Tan et al., 2012; Luyckx et al., 2019; Park et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730).
Pseudocoarctation of the aorta
MedGen UID:
138015
Concept ID:
C0345088
Congenital Abnormality
Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPatent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
Follow this link to review classifications for Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome in Orphanet.

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
Regalado ES, Mellor-Crummey L, De Backer J, Braverman AC, Ades L, Benedict S, Bradley TJ, Brickner ME, Chatfield KC, Child A, Feist C, Holmes KW, Iannucci G, Lorenz B, Mark P, Morisaki T, Morisaki H, Morris SA, Mitchell AL, Ostergaard JR, Richer J, Sallee D, Shalhub S, Tekin M; Montalcino Aortic Consortium, Estrera A, Musolino P, Yetman A, Pyeritz R, Milewicz DM
Genet Med 2018 Oct;20(10):1206-1215. Epub 2018 Jan 4 doi: 10.1038/gim.2017.245. PMID: 29300374Free PMC Article
Paterick TE, Humphries JA, Ammar KA, Jan MF, Loberg R, Bush M, Khandheria BK, Tajik AJ
Am J Med 2013 Aug;126(8):670-8. Epub 2013 Jun 22 doi: 10.1016/j.amjmed.2013.01.029. PMID: 23800581

Recent clinical studies

Etiology

Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 May;55(5):637-644. doi: 10.1002/uog.21956. PMID: 31875326
Friedman K
Semin Cardiothorac Vasc Anesth 2018 Sep;22(3):265-269. Epub 2018 Apr 12 doi: 10.1177/1089253218770198. PMID: 29649938
Paterick TE, Humphries JA, Ammar KA, Jan MF, Loberg R, Bush M, Khandheria BK, Tajik AJ
Am J Med 2013 Aug;126(8):670-8. Epub 2013 Jun 22 doi: 10.1016/j.amjmed.2013.01.029. PMID: 23800581
Yuan SM, Jing H
Sao Paulo Med J 2010;128(5):296-301. doi: 10.1590/s1516-31802010000500010. PMID: 21181071
Forsey JT, Elmasry OA, Martin RP
Orphanet J Rare Dis 2009 Jul 10;4:17. doi: 10.1186/1750-1172-4-17. PMID: 19591690Free PMC Article

Diagnosis

Bi WJ, Xiao YJ, Liu YJ, Hou Y, Ren WD
BMC Cardiovasc Disord 2021 Jan 6;21(1):15. doi: 10.1186/s12872-020-01837-y. PMID: 33407161Free PMC Article
Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 May;55(5):637-644. doi: 10.1002/uog.21956. PMID: 31875326
Das KM, Momenah TS, Larsson SG, Jadoon S, Aldosary AS, Lee EY
Pediatr Cardiol 2014 Dec;35(8):1309-20. Epub 2014 Aug 20 doi: 10.1007/s00246-014-0998-z. PMID: 25139247
Yuan SM, Jing H
Sao Paulo Med J 2010;128(5):296-301. doi: 10.1590/s1516-31802010000500010. PMID: 21181071
Forsey JT, Elmasry OA, Martin RP
Orphanet J Rare Dis 2009 Jul 10;4:17. doi: 10.1186/1750-1172-4-17. PMID: 19591690Free PMC Article

Therapy

Tennis P, Chan KA, Curkendall SM, Li DK, Mines D, Peterson C, Andrews EB, Calingaert B, Chen HY, Deshpande G, Everage N, Holick CN, Meyer NM, Nkhoma ET, Quinn S, Rothman KJ, Esposito DB
Birth Defects Res A Clin Mol Teratol 2015 Apr;103(4):269-75. Epub 2015 Mar 16 doi: 10.1002/bdra.23357. PMID: 25776342
Rolnitsky A, Merlob P, Klinger G
Pediatr Neurol 2013 Jun;48(6):466-8. doi: 10.1016/j.pediatrneurol.2013.02.012. PMID: 23668873
Hsueh KF, Yang CS, Lu JH, Hsu WM
J Chin Med Assoc 2004 Oct;67(10):542-6. PMID: 15648291
Oosterhof T, Azakie A, Freedom RM, Williams WG, McCrindle BW
Ann Thorac Surg 2004 Nov;78(5):1696-702. doi: 10.1016/j.athoracsur.2004.05.035. PMID: 15511458
Gelb BD, O'Laughlin MP, Mullins CE
J Am Coll Cardiol 1990 Dec;16(7):1680-6. doi: 10.1016/0735-1097(90)90319-k. PMID: 2254553

Prognosis

Bi WJ, Xiao YJ, Liu YJ, Hou Y, Ren WD
BMC Cardiovasc Disord 2021 Jan 6;21(1):15. doi: 10.1186/s12872-020-01837-y. PMID: 33407161Free PMC Article
Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 May;55(5):637-644. doi: 10.1002/uog.21956. PMID: 31875326
Tanasubsinn N, Sittiwangkul R, Pongprot Y, Kawasaki K, Ohazama A, Sastraruji T, Kaewgahya M, Kantaputra PN
J Hum Genet 2017 Aug;62(8):769-775. Epub 2017 Apr 6 doi: 10.1038/jhg.2017.37. PMID: 28381879Free PMC Article
Paterick TE, Humphries JA, Ammar KA, Jan MF, Loberg R, Bush M, Khandheria BK, Tajik AJ
Am J Med 2013 Aug;126(8):670-8. Epub 2013 Jun 22 doi: 10.1016/j.amjmed.2013.01.029. PMID: 23800581
Forsey JT, Elmasry OA, Martin RP
Orphanet J Rare Dis 2009 Jul 10;4:17. doi: 10.1186/1750-1172-4-17. PMID: 19591690Free PMC Article

Clinical prediction guides

Bi WJ, Xiao YJ, Liu YJ, Hou Y, Ren WD
BMC Cardiovasc Disord 2021 Jan 6;21(1):15. doi: 10.1186/s12872-020-01837-y. PMID: 33407161Free PMC Article
Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 May;55(5):637-644. doi: 10.1002/uog.21956. PMID: 31875326
Tanasubsinn N, Sittiwangkul R, Pongprot Y, Kawasaki K, Ohazama A, Sastraruji T, Kaewgahya M, Kantaputra PN
J Hum Genet 2017 Aug;62(8):769-775. Epub 2017 Apr 6 doi: 10.1038/jhg.2017.37. PMID: 28381879Free PMC Article
Das KM, Momenah TS, Larsson SG, Jadoon S, Aldosary AS, Lee EY
Pediatr Cardiol 2014 Dec;35(8):1309-20. Epub 2014 Aug 20 doi: 10.1007/s00246-014-0998-z. PMID: 25139247
Gelb BD, Zhang J, Sommer RJ, Wasserman JM, Reitman MJ, Willner JP
Am J Med Genet 1999 Nov 19;87(2):175-9. doi: 10.1002/(sici)1096-8628(19991119)87:2<175::aid-ajmg9>3.0.co;2-#. PMID: 10533032

Recent systematic reviews

Kawasaki Y, Murakami Y, Fujino M, Sasaki T, Nakamura K, Yoshida Y, Suzuki T, Nishigaki K, Ehara E
Heart Vessels 2022 Jan;37(1):142-151. Epub 2021 Jun 5 doi: 10.1007/s00380-021-01887-y. PMID: 34089363

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...