Aims We sought to summarize a very rare association between multiple rare incidence diseases in a patient with Langdon-Down syndrome and also to correctly document each pathology and use the best course of treatment.
Background Factor VII deficiency has an incidence of 1 in 500.000 reported cases. Complete endocardial cushion defect [ECD] occurs in 2% percent of all congenital heart defects. Additional cardiac abnormalities (persistent ductus arteriosus and tetralogy of Fallot [ToF]) may occur in 10% of all ECD’s. Associated defects are rare in children with Down syndrome.
Methods A 5 weeks old infant with a Down phenotype was admitted in the Intermediate Care Unit for severe tonic-clonic seizures and an unexplored heart murmur. A computed tomography scan revealed a massive hemorrhaging in the fronto-parieto-occipital left cerebral region. Trauma was excluded and the prothrombin time was prolonged with the activated partial trhomboplastin time normal so we sent a blood sample for the factor VII activity.
We performed an echocardiography.
A karyotype study was carried out.
Complete ECD with the common atrio-ventricular valve in dextroisomerism, left ventricle hypoplasia, associated with ToF.
The factor VII activity showed a 2% activity level
classical 21 trisomy