Tricuspid atresia and conotruncal malformations in five families

Editor—Tricuspid atresia, an inflow anomaly, does not classically belong to the embryological group of conotruncal malformations involving the outflow tract. We report here five families with tricuspid atresia in one member and conotruncal malformation in a relative. We believe that this apparently non-concordant recurrence is not fortuitous according to the mechanistic classification of congenital heart malformations.1 The family pedigrees are shown in fig 1. All cases of tricuspid atresia were of the same subtype with muscular ventricular septal defect, subpulmonary stenosis, and ventriculoarterial concordance (type Ib). All patients had a normal karyotype. No chromosome 22q11 microdeletion could be identified by fluorescence hybridisation with the …

• Publication year

  1999

• Venue

  Journal of Medical Genetics

• Publication date

  1999-04-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1136/JMG.36.4.349PMID 10227411PMCID PMC1734343
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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