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Heart-hand syndrome type 2

MedGen UID:
444030
•Concept ID:
C2931323
•
Disease or Syndrome
Synonym: Tabatznik syndrome
SNOMED CT: Heart-hand syndrome type 2 (721010003); Atriodigital dysplasia type 2 (721010003); Tabatznik syndrome (721010003)
 
Monarch Initiative: MONDO:0015284
Orphanet: ORPHA1350

Definition

An extremely rare type of heart-hand syndrome. Described in two families to date, with characteristics of upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation). [from SNOMEDCT_US]

Professional guidelines

PubMed

Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.
Brassington AM, Sung SS, Toydemir RM, Le T, Roeder AD, Rutherford AE, Whitby FG, Jorde LB, Bamshad MJ
Am J Hum Genet 2003 Jul;73(1):74-85. Epub 2003 Jun 3 doi: 10.1086/376436. PMID: 12789647Free PMC Article

Recent clinical studies

Etiology

Anti-apoptotic effects of IGF-I on mortality and dysmorphogenesis in tbx5-deficient zebrafish embryos.
Tsai TC, Shih CC, Chien HP, Yang AH, Lu JK, Lu JH
BMC Dev Biol 2018 Mar 5;18(1):5. doi: 10.1186/s12861-017-0161-1. PMID: 29506474Free PMC Article
TBX5 loss-of-function mutation contributes to atrial fibrillation and atypical Holt-Oram syndrome.
Guo DF, Li RG, Yuan F, Shi HY, Hou XM, Qu XK, Xu YJ, Zhang M, Liu X, Jiang JQ, Yang YQ, Qiu XB
Mol Med Rep 2016 May;13(5):4349-56. Epub 2016 Mar 24 doi: 10.3892/mmr.2016.5043. PMID: 27035640
The fate of the index metacarpophalangeal joint following pollicization.
Lochner HV, Oishi S, Ezaki M, Malungpaishrope K, Moore RB
J Hand Surg Am 2012 Aug;37(8):1672-6. Epub 2012 Jul 3 doi: 10.1016/j.jhsa.2012.05.031. PMID: 22763061
Characteristics of patients with hypoplastic thumbs.
James MA, McCarroll HR Jr, Manske PR
J Hand Surg Am 1996 Jan;21(1):104-13. doi: 10.1016/s0363-5023(96)80162-6. PMID: 8775204
Magnetic resonance imaging of nontraumatic shoulder instability in children.
Gudinchet F, Naggar L, Ginalski JM, Dutoit M, Schnyder P
Skeletal Radiol 1992;21(1):19-21. doi: 10.1007/BF00243087. PMID: 1546332

Diagnosis

Transcriptional regulation of human T-box 5 gene (TBX5) by bone- and cardiac-related transcription factors.
Varela D, Conceição N, Cancela ML
Gene 2021 Feb 5;768:145322. Epub 2020 Nov 19 doi: 10.1016/j.gene.2020.145322. PMID: 33221539
Defining Features of the Upper Extremity in Holt-Oram Syndrome.
Wall LB, Piper SL, Habenicht R, Oishi SN, Ezaki M, Goldfarb CA
J Hand Surg Am 2015 Sep;40(9):1764-8. Epub 2015 Aug 1 doi: 10.1016/j.jhsa.2015.06.102. PMID: 26243320Free PMC Article
The fate of the index metacarpophalangeal joint following pollicization.
Lochner HV, Oishi S, Ezaki M, Malungpaishrope K, Moore RB
J Hand Surg Am 2012 Aug;37(8):1672-6. Epub 2012 Jul 3 doi: 10.1016/j.jhsa.2012.05.031. PMID: 22763061
A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation.
Postma AV, van de Meerakker JB, Mathijssen IB, Barnett P, Christoffels VM, Ilgun A, Lam J, Wilde AA, Lekanne Deprez RH, Moorman AF
Circ Res 2008 Jun 6;102(11):1433-42. Epub 2008 May 1 doi: 10.1161/CIRCRESAHA.107.168294. PMID: 18451335
Magnetic resonance imaging of nontraumatic shoulder instability in children.
Gudinchet F, Naggar L, Ginalski JM, Dutoit M, Schnyder P
Skeletal Radiol 1992;21(1):19-21. doi: 10.1007/BF00243087. PMID: 1546332

Therapy

TBX5 loss-of-function mutation contributes to atrial fibrillation and atypical Holt-Oram syndrome.
Guo DF, Li RG, Yuan F, Shi HY, Hou XM, Qu XK, Xu YJ, Zhang M, Liu X, Jiang JQ, Yang YQ, Qiu XB
Mol Med Rep 2016 May;13(5):4349-56. Epub 2016 Mar 24 doi: 10.3892/mmr.2016.5043. PMID: 27035640

Prognosis

Prevalence and Spectrum of TBX5 Mutation in Patients with Lone Atrial Fibrillation.
Wang ZC, Ji WH, Ruan CW, Liu XY, Qiu XB, Yuan F, Li RG, Xu YJ, Liu X, Huang RT, Xue S, Yang YQ
Int J Med Sci 2016;13(1):60-7. Epub 2016 Jan 23 doi: 10.7150/ijms.13264. PMID: 26917986Free PMC Article
Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.
Brassington AM, Sung SS, Toydemir RM, Le T, Roeder AD, Rutherford AE, Whitby FG, Jorde LB, Bamshad MJ
Am J Hum Genet 2003 Jul;73(1):74-85. Epub 2003 Jun 3 doi: 10.1086/376436. PMID: 12789647Free PMC Article

Clinical prediction guides

Prevalence and Spectrum of TBX5 Mutation in Patients with Lone Atrial Fibrillation.
Wang ZC, Ji WH, Ruan CW, Liu XY, Qiu XB, Yuan F, Li RG, Xu YJ, Liu X, Huang RT, Xue S, Yang YQ
Int J Med Sci 2016;13(1):60-7. Epub 2016 Jan 23 doi: 10.7150/ijms.13264. PMID: 26917986Free PMC Article
Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.
Brassington AM, Sung SS, Toydemir RM, Le T, Roeder AD, Rutherford AE, Whitby FG, Jorde LB, Bamshad MJ
Am J Hum Genet 2003 Jul;73(1):74-85. Epub 2003 Jun 3 doi: 10.1086/376436. PMID: 12789647Free PMC Article

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