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Heart-hand syndrome

MedGen UID:
1853290
•Concept ID:
C5848054
•
Disease or Syndrome
Synonym: Atriodigital dysplasia
 
Related genes: TBX5, LMNA
 
Monarch Initiative: MONDO:0016432
Orphanet: ORPHA228184

Definition

Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms). [from ORDO]

Professional guidelines

PubMed

TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.
McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, St John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M, Basson CT
Pediatr Res 2005 Nov;58(5):981-6. Epub 2005 Sep 23 doi: 10.1203/01.PDR.0000182593.95441.64. PMID: 16183809

Recent clinical studies

Etiology

Clinical and epidemiological features of heart-hand syndrome, an updated analysis in China.
Yin Y, Ji J, Zhao J, Chen S, Tian W
BMC Musculoskelet Disord 2020 Nov 25;21(1):777. doi: 10.1186/s12891-020-03813-1. PMID: 33238988Free PMC Article
Clinical and epidemiological features of Heart-Hand Syndrome: a hospital-based study in China.
Yin Y, Ji J, Borné Y, Wang Y, Zhao J, Chen S, Tian W
Sci Rep 2018 May 31;8(1):8469. doi: 10.1038/s41598-018-26727-4. PMID: 29855495Free PMC Article

Diagnosis

Familial atrial myopathy in a large multigenerational heart-hand syndrome pedigree carrying an LMNA missense variant in rod 2B domain (p.R335W).
Zhang Y, Lin Y, Zhang Y, Wang Y, Li Z, Zhu Y, Liu H, Ju W, Cui C, Chen M
Heart Rhythm 2022 Mar;19(3):466-475. Epub 2021 Nov 20 doi: 10.1016/j.hrthm.2021.11.022. PMID: 34808346
Clinical and epidemiological features of heart-hand syndrome, an updated analysis in China.
Yin Y, Ji J, Zhao J, Chen S, Tian W
BMC Musculoskelet Disord 2020 Nov 25;21(1):777. doi: 10.1186/s12891-020-03813-1. PMID: 33238988Free PMC Article
Postmortem Diagnosis of Heart-hand Syndrome Associated With a 7p22.1p22.3 Deletion in a 16-week-old Fetus.
Tessier A, Callier P, LeMeur N, Frebourg T, Sabourin JC, Patrier S
Pediatr Dev Pathol 2019 Mar-Apr;22(2):146-151. Epub 2018 Sep 7 doi: 10.1177/1093526618799293. PMID: 30193563
Takotsubo syndrome and brachydactyly: a new heart-hand syndrome?
Danese C, Bocchini S, Rubini G, Nardi M, Amato S
Clin Ter 2011;162(1):41-4. PMID: 21448545
Unicuspid aortic valve, hand anomalies: a heart-hand syndrome.
Nanda S, Longo S, Arastu MI
Am J Med Sci 2010 Mar;339(3):296-9. doi: 10.1097/MAJ.0b013e3181c5ba64. PMID: 20090511

Prognosis

Familial atrial myopathy in a large multigenerational heart-hand syndrome pedigree carrying an LMNA missense variant in rod 2B domain (p.R335W).
Zhang Y, Lin Y, Zhang Y, Wang Y, Li Z, Zhu Y, Liu H, Ju W, Cui C, Chen M
Heart Rhythm 2022 Mar;19(3):466-475. Epub 2021 Nov 20 doi: 10.1016/j.hrthm.2021.11.022. PMID: 34808346
Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome.
Le Meur N, Goldenberg A, Michel-Adde C, Drouin-Garraud V, Blaysat G, Marret S, Amara SA, Moirot H, Joly-Hélas G, Mace B, Kleinfinger P, Saugier-Veber P, Frébourg T, Rossi A
Am J Med Genet A 2005 May 1;134(4):439-42. doi: 10.1002/ajmg.a.30660. PMID: 15810003

Clinical prediction guides

Familial atrial myopathy in a large multigenerational heart-hand syndrome pedigree carrying an LMNA missense variant in rod 2B domain (p.R335W).
Zhang Y, Lin Y, Zhang Y, Wang Y, Li Z, Zhu Y, Liu H, Ju W, Cui C, Chen M
Heart Rhythm 2022 Mar;19(3):466-475. Epub 2021 Nov 20 doi: 10.1016/j.hrthm.2021.11.022. PMID: 34808346
A heart-hand syndrome gene: Tfap2b plays a critical role in the development and remodeling of mouse ductus arteriosus and limb patterning.
Zhao F, Bosserhoff AK, Buettner R, Moser M
PLoS One 2011;6(7):e22908. Epub 2011 Jul 29 doi: 10.1371/journal.pone.0022908. PMID: 21829553Free PMC Article
Mutation of perinatal myosin heavy chain associated with a Carney complex variant.
Veugelers M, Bressan M, McDermott DA, Weremowicz S, Morton CC, Mabry CC, Lefaivre JF, Zunamon A, Destree A, Chaudron JM, Basson CT
N Engl J Med 2004 Jul 29;351(5):460-9. doi: 10.1056/NEJMoa040584. PMID: 15282353
Familial patent ductus arteriosus and bicuspid aortic valve with hand anomalies: a novel heart-hand syndrome.
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
The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome).
Basson CT, Cowley GS, Solomon SD, Weissman B, Poznanski AK, Traill TA, Seidman JG, Seidman CE
N Engl J Med 1994 Mar 31;330(13):885-91. doi: 10.1056/NEJM199403313301302. PMID: 8114858

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