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Tricuspid atresia and conotruncal malformations in five families
  1. DAMIEN BONNET,
  2. LAURENT FERMONT,
  3. JEAN KACHANER,
  4. DANIEL SIDI
  1. Service de Cardiologie Pédiatrique, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015 Paris, France
  2. Service de Génétique Médicale, Hôpital Necker-Enfants Malades, Paris, France
    1. JEANNE AMIEL,
    2. STANISLAS LYONNET,
    3. ARNOLD MUNNICH
    1. Service de Cardiologie Pédiatrique, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015 Paris, France
    2. Service de Génétique Médicale, Hôpital Necker-Enfants Malades, Paris, France

      https://doi.org/10.1136/jmg.36.4.349

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        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 …

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