Molecular Characterization of Tetralogy of Fallot with Chromosome 22q11 Microdeletion

Chromosome 22q11 microdeletions in tetralogy of Fallot.

Chromosome 22q11 fluorescence in situ hybridisation (FISH) studies were performed on 33 consecutive individuals attending a paediatric cardiology clinic with tetralogy of Fallot. Seven children had 22q11 microdeletions but only four had other clinical features associated with the newly recognised chromosome 22 deletion syndrome (CATCH 22). Chromosome 22q11 FISH studies should therefore be perfo...

Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion.

Isolated tetralogy of Fallot (TF) has a multifactorial mode of inheritance in most cases, and recurrence risk rates of 2.5-3% have been attributed to first degree relatives of an affected child. In a subgroup of patients with a strong family history, the transmission of a monogenic trait has been suspected. Microdeletion 22q11 (del(22q11)) can cause TF in the setting of DiGeorge and velocardiof...

Prenatal diagnosis of tetralogy of Fallot associated with chromosome 22q11 deletion.

Microdeletion of 22q11 is responsible for DiGeorge syndrome, velocardiofacial syndrome, congenital conotruncal heart defects, and related disorders. We report our experiences on prenatal diagnosis by fluorescence in situ hybridization (FISH) for 22q11 deletion in two fetuses with tetralogy of Fallot. Karyotyping and FISH of the parents revealed that one fetus inherited the disease from maternal...

Prevalence of 22q11 microdeletion.

Aspergillus Fumigatus Endocarditis after Total Correction of Tetralogy of Fallot

There are few studies about post-cardiac surgery fungal infections especially by Aspergillus fumigatus. In this paper we report a case of Aspergillus fumigatus endocarditis after tetralogy of Fallot total correction (TFTC), and permanent pacemaker (PPM) implantation. A five-year-old female patient with current history of total correction of tetralogy of fallot was admitted in Rajaie Ca...