Heart-hand diseases

Heart-hand syndromes
Synonym Atriodigital dysplasia
Classification and external resources
ICD-10 Q87.2
Orphanet 228184

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

As of July 2013, known heart-hand syndromes include Holt–Oram syndrome, Berk–Tabatznik syndrome, heart-hand syndrome type 3, brachydactyly-long thumb syndrome, patent ductus arteriosus-bicuspid aortic valve syndrome and heart hand syndrome, Slovenian type.[5]

Types

Heart-hand syndrome type 1

Heart-hand syndrome type 1
Synonym Holt–Oram syndrome
Classification and external resources
ICD-10 Q87.2
OMIM 142900
Orphanet 392
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

Heart-hand syndrome type 2
Synonym Tabatznik syndrome, Berk–Tabatznik syndrome
Classification and external resources
ICD-10 Q87.2
Orphanet 1350

Heart-hand syndrome type 2 is also known as Berk–Tabatznik syndrome. 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

Heart-hand syndrome type 3
Synonym Heart-hand syndrome, Spanish type
Classification and external resources
ICD-10 Q87.2
OMIM 140450
Orphanet 1342

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

Heart-hand syndrome, Slovenian type
Classification and external resources
ICD-10 Q87.2
OMIM 610140
Orphanet 168796

Several people in multiple generations have suffered 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

Brachydactyly-long thumb
Synonym Brachydactyly, long thumb type
Classification and external resources
ICD-10 Q87.2
OMIM 112430
Orphanet 2946

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

Patent ductus arteriosus-bicuspid aortic valve syndrome

Patent ductus arteriosus-bicuspid aortic valve
Synonym Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome
Classification and external resources
ICD-10 Q87.2
OMIM 604381
Orphanet 228190

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

Holt–Oram syndrome has an autosomal dominant pattern of inheritance.

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.

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

See also

References

  1. 1 2 3 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". 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". 45 (10): 666–671. doi:10.1136/jmg.2008.060020. 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.
  6. ↑ Skelley, Tao Le, Vikas Bhushan, Nathan William. First aid for the USMLE step 2 CK (8th ed.). New York: McGraw-Hill Medical. p. 357. ISBN 978-0-07-176137-6.
  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.
  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. 1 2 "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.
This article is issued from Wikipedia - version of the 11/2/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.