Medical condition
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
[update]
, 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
[
edit
]
Heart-hand syndrome type 1
[
edit
]
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
[
edit
]
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
[
edit
]
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
[
edit
]
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
[
edit
]
Described in one family. A unique feature in the syndrome is symmetric brachydactyly with long thumbs.
[11]
Patent ductus arteriosus-bicuspid aortic valve syndrome
[
edit
]
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
[
edit
]
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
[
edit
]
References
[
edit
]
- ^
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.
- ^
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
.
- ^
Satyajeet Roy; Monaliben Patel (16 January 2013).
"Hand Deformities and Heart Problems: A Case Report"
.
www.consultantlive.com
. Retrieved
25 July
2016
.
- ^
Helton, Kathleen (1993).
"Heart-hand syndrome, type 1"
.
TheFetus.net
. Retrieved
25 July
2016
.
- ^
RESERVED, INSERM US14 -- ALL RIGHTS.
"Orphanet: Heart hand syndrome"
. Retrieved
25 July
2016
.
{{
cite web
}}
: CS1 maint: numeric names: authors list (
link
)
- ^
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
)
- ^
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
.
- ^
RESERVED, INSERM US14 -- ALL RIGHTS.
"Orphanet: Heart hand syndrome type 3"
. Retrieved
25 July
2016
.
{{
cite web
}}
: CS1 maint: numeric names: authors list (
link
)
- ^
"Heart-hand syndrome, Spanish type - Disease - Symptoms - Genetic and Rare Diseases Information Center (GARD) ? an NCATS Program"
. Retrieved
25 July
2016
.
- ^
"OMIM Entry - # 610140 - HEART-HAND SYNDROME, SLOVENIAN TYPE"
. Retrieved
25 July
2016
.
- ^
a
b
"OMIM Entry - 112430 - LONG-THUMB BRACHYDACTYLY SYNDROME"
. Retrieved
25 July
2016
.
- ^
"OMIM Entry - 604381 - PATENT DUCTUS ARTERIOSUS AND BICUSPID AORTIC VALVE WITH HAND ANOMALIES"
. Retrieved
25 July
2016
.
External links
[
edit
]
Classification
| |
---|
External resources
| |
---|