Medicine:Heart-hand syndromes
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| Heart-hand syndromes | |
|---|---|
| Other names | Atriodigital dysplasia |
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| Holt–Oram syndrome has an autosomal dominant pattern of inheritance. | |
| Specialty | Medical genetics |
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, brachydactyly-long thumb syndrome, patent ductus arteriosus-bicuspid aortic valve syndrome, heart hand syndrome, Slovenian type and Heart-hand syndrome, Spanish type.[5]
Types
Heart-hand syndrome type 1
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 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
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
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
Described in one family. A unique feature in the syndrome is symmetric brachydactyly with long thumbs.[11]
Patent ductus arteriosus-bicuspid aortic valve syndrome
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
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
- Cardiovascular disease
- Congenital heart defect
- Congenital limb deformities
- Hand deformity
References
- ↑ 1.0 1.1 1.2 Basson, Craig T.; Solomon, Scott D.; Weissman, Barbara; MacRae, Calum A.; Poznanski, Andrew K.; Prieto, Felix; Fuente, Salvador Ruiz de la; Pease, William E. et al. (1 March 1995). "Genetic Heterogeneity of Heart-Hand Syndromes". Circulation 91 (5): 1326–1329. doi:10.1161/01.CIR.91.5.1326. PMID 7867169. http://circ.ahajournals.org/content/91/5/1326.long. Retrieved 25 July 2016.
- ↑ Renou, L; Stora, S; Yaou, R B.; Volk, M; Sinkovec, M; Demay, L; Richard, P; Peterlin, B et al. (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. https://www.researchgate.net/publication/5240766. Retrieved 25 July 2016.
- ↑ "Hand Deformities and Heart Problems: A Case Report". 16 January 2013. http://www.consultantlive.com/photoclinic/hand-deformities-and-heart-problems-case-report.
- ↑ Helton, Kathleen (1993). "Heart-hand syndrome, type 1". https://sonoworld.com/fetus/page.aspx?id=419.
- ↑ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Heart hand syndrome". http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228184.
- ↑ 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. pp. 357. ISBN 978-0-07-176137-6.
- ↑ 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. https://books.google.com/books?id=uRR1MYa-w5wC&pg=PT110.
- ↑ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Heart hand syndrome type 3". http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1342.
- ↑ "Heart-hand syndrome, Spanish type - Disease - Symptoms - Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". https://rarediseases.info.nih.gov/gard/2614/heart-hand-syndrome-spanish-type/resources/9.
- ↑ "OMIM Entry - # 610140 - HEART-HAND SYNDROME, SLOVENIAN TYPE". http://omim.org/entry/610140.
- ↑ 11.0 11.1 "OMIM Entry - 112430 - LONG-THUMB BRACHYDACTYLY SYNDROME". http://omim.org/entry/112430.
- ↑ "OMIM Entry - 604381 - PATENT DUCTUS ARTERIOSUS AND BICUSPID AORTIC VALVE WITH HAND ANOMALIES". http://omim.org/entry/604381.
External links
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