Wikipedia

Heart-hand syndromes

(Redirected from Brachydactyly-mesomelia-intellectual disability-heart defects syndrome)

Heart-hand syndromes are a group of rare diseases that manifest with both heart and limb deformities.[1][2][3][4]

Heart-hand syndromes
Other namesAtriodigital dysplasia
Holt–Oram syndrome has an autosomal dominant pattern of inheritance.
SpecialtyMedical genetics

As of July 2013, known heart-hand syndromes include Holt–Oram syndrome, Berk–Tabatznik syndrome, brachydactyly-long thumb syndrome, patent ductus arteriosus-bicuspid aortic valve syndrome, heart hand syndrome, Slovenian type and Heart-hand syndrome, Spanish type.[5]

Types

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Heart-hand syndrome type 1

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Main article: Holt–Oram syndrome

Heart-hand syndrome type 1 is more commonly known as Holt–Oram syndrome. Is the most prevalent form of heart-hand syndrome.[1]

It is an autosomal dominant disorder that affects bones in the arms and hands (the upper limbs) and may also cause heart problems. The syndrome includes an absent radial bone in the arms, an atrial septal defect, and a first degree heart block.[6]

Heart-hand syndrome type 2

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Main article: Berk–Tabatznik syndrome

Heart-hand syndrome type 2 is also known as Berk–Tabatznik syndrome.[citation needed] Berk–Tabatznik syndrome is a condition with an unknown cause that shows symptoms of short stature, congenital optic atrophy and brachytelephalangy. This condition is extremely rare with only two cases being found.[7]

Heart-hand syndrome type 3

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Main article: Heart-hand syndrome, Spanish type

Heart-hand syndrome type 3 is very rare and has been described only in three members of a Spanish family. It is also known as Heart-hand syndrome, Spanish type.[8][9]

Heart-hand syndrome, Slovenian type

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Main article: Heart-hand syndrome, Slovenian type

Several people in multiple generations have had this type. It causes sudden cardiac death due to ventricular tachycardia, and it prominently causes a unique type of brachydactyly with mild hand involvement and more severe foot involvement.[10]

Brachydactyly-long thumb syndrome

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Main article: Brachydactyly-long thumb syndrome

Described in one family. A unique feature in the syndrome is symmetric brachydactyly with long thumbs.[11]

Patent ductus arteriosus-bicuspid aortic valve syndrome

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It has been confirmed that Patent ductus arteriosus-bicuspid aortic valve syndrome is a distinct syndrome from an allelic variant of Char syndrome. Hand anomalies include metacarpal hypoplasia.[12]

Genetics

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It is unknown if heart-hand syndromes are caused by shared or distinct genetic defects. It has been claimed that congenital heart diseases are caused by a limited number of shared genetic defects.[1]

Holt–Oram syndrome, Brachydactyly-long thumb syndrome, Patent ductus arteriosus-bicuspid aortic valve syndrome and Heart-hand syndrome, Slovenian type are known to be autosomally dominant disorders.[citation needed]

Brachydactyly-long thumb syndrome is known to have been transmitted from male-to-male in a single instance.[11]

See also

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References

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  1. ^ a b c Basson, Craig T.; Solomon, Scott D.; Weissman, Barbara; MacRae, Calum A.; Poznanski, Andrew K.; Prieto, Felix; Fuente, Salvador Ruiz de la; Pease, William E.; Levin, S. E.; Holmes, Lewis B.; Seidman, J. G.; Seidman, Christine E. (1 March 1995). "Genetic Heterogeneity of Heart-Hand Syndromes". Circulation. 91 (5): 1326–1329. doi:10.1161/01.CIR.91.5.1326. PMID 7867169. Retrieved 25 July 2016 – via circ.ahajournals.org.
  2. ^ Renou, L; Stora, S; Yaou, R B.; Volk, M; Sinkovec, M; Demay, L; Richard, P; Peterlin, B; Bonne, G (1 July 2008). "Heart-hand syndrome of Slovenian type: a new kind of laminopathy". Journal of Medical Genetics. 45 (10): 666–671. doi:10.1136/jmg.2008.060020. PMID 18611980. S2CID 24964665. Retrieved 25 July 2016.
  3. ^ Satyajeet Roy; Monaliben Patel (16 January 2013). "Hand Deformities and Heart Problems: A Case Report". www.consultantlive.com. Retrieved 25 July 2016.
  4. ^ Helton, Kathleen (1993). "Heart-hand syndrome, type 1". TheFetus.net. Retrieved 25 July 2016.
  5. ^ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Heart hand syndrome". Retrieved 25 July 2016.{{cite web}}: CS1 maint: numeric names: authors list (link)
  6. ^ Skelley, Tao Le, Vikas Bhushan, Nathan William (12 March 2012). First aid for the USMLE step 2 CK (8th ed.). New York: McGraw-Hill Medical. p. 357. ISBN 978-0-07-176137-6.{{cite book}}: CS1 maint: multiple names: authors list (link)
  7. ^ Bissonnette, Bruno; Luginbuehl, Igor; Dalens, Bernard J., eds. (2006). "Berk–Tabatznik Syndrome". Syndromes: rapid recognition and perioperative implications. New York: McGraw-Hill. p. 94. ISBN 978-0-07-135455-4.
  8. ^ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Heart hand syndrome type 3". Retrieved 25 July 2016.{{cite web}}: CS1 maint: numeric names: authors list (link)
  9. ^ "Heart-hand syndrome, Spanish type - Disease - Symptoms - Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". Retrieved 25 July 2016.
  10. ^ "OMIM Entry - # 610140 - HEART-HAND SYNDROME, SLOVENIAN TYPE". Retrieved 25 July 2016.
  11. ^ a b "OMIM Entry - 112430 - LONG-THUMB BRACHYDACTYLY SYNDROME". Retrieved 25 July 2016.
  12. ^ "OMIM Entry - 604381 - PATENT DUCTUS ARTERIOSUS AND BICUSPID AORTIC VALVE WITH HAND ANOMALIES". Retrieved 25 July 2016.
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