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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.

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Ulnar deviation of the 2nd finger

MedGen UID:: 336806
•Concept ID:: C1844891
•: Finding

Displacement of the 2nd (index) finger towards the ulnar side.

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Short middle phalanx of finger

MedGen UID:: 337690
•Concept ID:: C1846950
•: Finding

Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.

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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.

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Abnormality of the cardiovascular system

MedGen UID:: 116727
•Concept ID:: C0243050
•: Congenital Abnormality

Any abnormality of the cardiovascular system.

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Abnormality of limbs
Abnormality of the cardiovascular system
- Abnormality of the cardiovascular system
- Sick sinus syndrome

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHeart-hand syndrome
- CROGVHeart-hand syndrome type 2
- CROGVHeart-hand syndrome type 3
- CROGVHeart-hand syndrome, Slovenian type
- CROGVHolt-Oram syndrome

Disorder of cardiovascular system
- Abnormality of the cardiovascular system
  - Abnormal cardiovascular system physiology
    - Abnormality of cardiovascular system electrophysiology
      - Cardiac arrhythmia
        Genetic cardiac rhythm disease
        Heart-hand syndrome type 3

Follow this link to review classifications for Heart-hand syndrome type 3 in Orphanet.

Professional guidelines

PubMed

Exome sequencing identifies a c.148-1G>C mutation of TBX5 in a Holt-Oram family with unusual genotype-phenotype correlations.

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

See all (1)

Recent clinical studies

Etiology

Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort study.

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: 30578734 Free 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

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

See all (4)

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

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: 26243320 Free 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

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

See all (7)

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

Atrial septal defect type II and upper limb malformation in 40-year-old male as a manifestation of Holt-Oram syndrome.

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: 31246270 Free PMC Article

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: 26917986 Free PMC Article

See all (3)

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

Atrial septal defect type II and upper limb malformation in 40-year-old male as a manifestation of Holt-Oram syndrome.

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: 31246270 Free PMC Article

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: 26917986 Free PMC Article

See all (3)

MedGen

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Heart-hand syndrome type 3

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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