ABSTRACT
Friedreich ataxia is the most common inherited ataxia in the world, but yet to be reported in black African. We report the first genetically confirmed case in a West African family. Studying genetic diseases in populations with diverse backgrounds may give new insights into their pathophysiology for future therapeutic targets.
Subject(s)
Ataxia Telangiectasia/genetics , Cell Cycle Proteins/genetics , DNA-Binding Proteins/genetics , Family Health , Mutation/genetics , Protein Serine-Threonine Kinases/genetics , Tumor Suppressor Proteins/genetics , Adolescent , Africa , Animals , Ataxia Telangiectasia Mutated Proteins , Child , Child, Preschool , DNA Mutational Analysis , Humans , Male , Neurologic Examination , Sequence Analysis, ProteinABSTRACT
AIM: To evaluate the information provided by echocardiography and cardiac catheterization in patients with partial cavopulmonary connection (PCPC) with or without additional pulmonary blood flow (PBF) in whom total cavopulmonary connection (TCPC) was planned. METHODS: We retrospectively evaluated the results provided by echocardiography and cardiac catheterization in 110 consecutive patients with PCPC (35 with isolated PCPC, 38 with associated antegrade PBF, 37 with associated retrograde PBF) in whom TCPC was planned. RESULTS: Eight patients had superior vena cava syndrome; all others suffered from cyanosis and fatigue. Pulmonary artery size could be determined in 54% of patients without additional PBF, in 47% of those with associated retrograde PBF and in 68% of those with associated PBF (p=0.20). Concomitant clinical signs of increased central venous pressure and echocardiographic signs of ventricular dysfunction and/or hypoplastic pulmonary arteries identified four patients in whom TCPC was not low-risk. PAP exceeding 16 mmHg was found in 9% of patients without and 16% of those with associated PBF (p=0.38). The Nakata index was higher in patients with associated antegrade PBF than in those without associated PBF (p=0.004) or in those with associated retrograde PBF (p=0.002). Of the 16 patients who needed concomitant interventional catheterization, 10 had associated retrograde PBF (p<0.05). In 11 patients (nine with and two without additional PBF), TCPC was contraindicated. CONCLUSION: Cardiac catheterization is still necessary before TCPC, mostly in patients with additional PBF, to identify those at risk and those needing interventional catheterization.
