Conotruncal Heart Malformations

Alternative Names

  • CTHM
  • Truncus Arteriosus Communis
  • Conotruncal Anomaly Face Syndrome
  • CAFS
  • Double-Outlet Right Ventricle
  • DORV
  • Persistent Truncus Arteriosus
  • PTA

Associated Genes

GATA-Binding Protein 5
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the circulatory system

OMIM Number

217095

Mode of Inheritance

Autosomal recessive

Gene Map Locus

5q35.1,8p21.2,18q11.2,22q11.21

Description

Conotruncal heart malformations are a group of cardiovascular defects resulting from abnormal cardiac outflow tract. The defects include: truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, double outlet right (or left) ventricle, and transposition of the arteries.

Conotruncal heart malformations are associated with mutations in NKX2-6, NKX2-5, GATA6 and human chromosomal region 22q11. In some cases, conotruncal defects have also been observed as a component of DiGeorge, velocardiofacial, and other syndromes.

Molecular Genetics

 

 

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
217095.1.1Lebanon Double outlet right ventricle; Ventricu...NM_080473.4:c.424T>CHomozygousAutosomal, RecessiveKassab et al, 2015

Other Reports

Kuwait

Abushaban et al. (2003) reported six cases of truncus arteriosus in four related families. Parents of all the affected children were consanguineous. Consanguinity combined with high incidence of truncus arteriosus in these families and normal karyotypes of the affected children led Abushaban et al. to suggest that the disorder could be monogenic, following Mendelian inheritance pattern.

Saudi Arabia

Bhuiyan et al. (2014) reported two sisters with conotruncal heart malformations - one of them had tetralogy of fallot and the other sister had truncus arteriosus. Two KCNH2 gene mutations[p.Val172Met and p.Arg293Cys] were detected in both these patients as well as in two of their unaffected family members. Bhuiyan et al. conducted further investigations to study the effects of KCNH2 mutations on arrhythmia susceptibility in patients with conotruncal heart malformations and observed no significant impact.

United Arab Emirates

Hamdan et al. 2015 reported that out of 1950 pregnant women undergoing fetal echocardiography, 152 fetuses were diagnosed with congenital heart disease. 139 of these were of Arab ethnic background and 60-70% of the Arabs were of Emirati origin. Parental consanguinity was noted in 69% of the Arab cases (96/139). Findings in the cohort included 26 cases of conotruncal malformations.  

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