TY - JOUR T1 - Tricuspid atresia and conotruncal malformations in five families JF - Journal of Medical Genetics JO - J Med Genet SP - 349 LP - 350 DO - 10.1136/jmg.36.4.349 VL - 36 IS - 4 AU - DAMIEN BONNET AU - LAURENT FERMONT AU - JEAN KACHANER AU - DANIEL SIDI AU - JEANNE AMIEL AU - STANISLAS LYONNET AU - ARNOLD MUNNICH Y1 - 1999/04/01 UR - http://jmg.bmj.com/content/36/4/349.abstract N2 - 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 … ER -