Cardiology · Cardiology / Congenital heart disease
Heterotaxy syndrome
also: isomerism; Ivemark syndrome (asplenia); polysplenia syndrome; Situs ambiguus
Abnormal left-right organ arrangement with complex congenital heart disease.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Congenital heart disease
- Sex & age distribution
- Male: affected, X-linked ZIC3 form male; Female: affected; Children: yes, neonates
- Gene(s) involved
- ACVR2B, CCDC11, CFC1, GDF1, LEFTY2, MMP21, NKX2-5, NODAL, PKD1L1, ZIC3
- Alternative names & eponyms
- isomerism; Ivemark syndrome (asplenia); polysplenia syndrome; Situs ambiguus
Etiology & mechanism
Disrupted left-right axis determination and ciliary function.
Gene(s) involved (10)
Symptoms & signs (8)
In plain terms, someone with Heterotaxy syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
4 shared
Ivemark syndrome
asplenia, cyanosis, howell–jolly bodies, intestinal malrotation
1 shared
Anomalous left coronary artery from pulmonary artery
poor feeding
1 shared
Bare lymphocyte syndrome
recurrent infections
1 shared
Barth syndrome
recurrent infections
1 shared
Blue baby syndrome
cyanosis
1 shared
Central alveolar hypoventilation syndrome
cyanosis
1 shared
Chediak–Higashi syndrome
recurrent infections
1 shared
Chédiak–Higashi syndrome
recurrent infections
1 shared
DiGeorge syndrome
recurrent infections
1 shared
Eisenmenger syndrome
cyanosis
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