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Heart-hand syndrome type 3

MedGen UID:
333883
Concept ID:
C1841657
Disease or Syndrome
Synonyms: Brachydactyly and intraventricular conduction defect; Heart-hand syndrome,Spanish type; Upper limb malformations and congenital cardiac anomalies
SNOMED CT: Heart-hand syndrome type 3 (721013001); Atriodigital dysplasia type 3 (721013001); Cardiomelic syndrome type 3 (721013001); Heart hand syndrome Spanish type (721013001); Heart limb syndrome type 3 (721013001)
 
Monarch Initiative: MONDO:0007702
OMIM®: 140450
Orphanet: ORPHA1342

Definition

A very rare type of heart-hand syndrome described in three members of a Spanish family to date. The syndrome has characteristics of cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. [from SNOMEDCT_US]

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.
Ulnar deviation of the 2nd finger
MedGen UID:
336806
Concept ID:
C1844891
Finding
Displacement of the 2nd (index) finger towards the ulnar side.
Short middle phalanx of finger
MedGen UID:
337690
Concept ID:
C1846950
Finding
Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.
Sick sinus syndrome
MedGen UID:
20749
Concept ID:
C0037052
Disease or Syndrome
An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress.
Abnormality of the cardiovascular system
MedGen UID:
116727
Concept ID:
C0243050
Congenital Abnormality
Any abnormality of the cardiovascular system.

Term Hierarchy

Professional guidelines

PubMed

Guo Q, Shen J, Liu Y, Pu T, Sun K, Chen S
Cell Physiol Biochem 2015;37(3):1066-74. Epub 2015 Sep 25 doi: 10.1159/000430232. PMID: 26401820

Recent clinical studies

Etiology

Tjon JK, Tan-Sindhunata GM, Bugiani M, Witbreuk MM, van der Sluijs JA, Weiss MM, van de Pol LA, van Weissenbruch MM, van der Knoop BJ, de Vries JI
Prenat Diagn 2019 Feb;39(3):219-231. Epub 2019 Feb 7 doi: 10.1002/pd.5411. PMID: 30578734Free PMC Article
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
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
Gudinchet F, Naggar L, Ginalski JM, Dutoit M, Schnyder P
Skeletal Radiol 1992;21(1):19-21. doi: 10.1007/BF00243087. PMID: 1546332

Diagnosis

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
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
Tjon JK, Tan-Sindhunata GM, Bugiani M, Witbreuk MM, van der Sluijs JA, Weiss MM, van de Pol LA, van Weissenbruch MM, van der Knoop BJ, de Vries JI
Prenat Diagn 2019 Feb;39(3):219-231. Epub 2019 Feb 7 doi: 10.1002/pd.5411. PMID: 30578734Free PMC Article
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
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

Prognosis

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
Szymczyk E, Wejner-Mik P, Lipiec P, Michalski B, Kasprzak JD
Cardiol J 2019;26(3):302-303. doi: 10.5603/CJ.2019.0062. PMID: 31246270Free PMC Article
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

Clinical prediction guides

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
Szymczyk E, Wejner-Mik P, Lipiec P, Michalski B, Kasprzak JD
Cardiol J 2019;26(3):302-303. doi: 10.5603/CJ.2019.0062. PMID: 31246270Free PMC Article
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

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