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515 A Rare Case of Langdon down Syndrome with Complete Endocardial Cushion Defect, Tetralogy of Fallot, Deficiency of Factor vii
  1. M Militaru1,
  2. A Maris2
  1. 1The Child and Mother Health Department, The Intermediate Care Unit
  2. 2The Intermediate Care Unit, The Clinical Hospital for Children, University of Medicine and Pharmacy ‘Iuliu Hatieganu’, Cluj-Napoca, Romania

Abstract

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.

Results

  • 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

Conclusion We provided a good documentation of a very rare association between separate severe pathologies and we showed that when faced with a congenital malformative syndrome one should never stop looking for other abnormalities.

Abstract 515 Figure 1

A- subcostal view- the arrow points to the insertion of anterior left leafl et on a papillary muscle, the X’s show a ventricula

B- subcostal view- the common AV valve and the atrial septal defect;

C- parasternal long axis- the over-riding aorta;

D- parasternal short axis- turbulent fl ow through the pulmonary valve (pulmonary artery stenosis)

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