Dysfunction of the foetal arterial duct results in a wide spectrum of cardiovascular pathology.

Objective: Foetal ductal problems may have various cardiopulmonary consequences. This study aimed to identify the spectrum of ductus arteriosus (DA) dysfunction (closure, constriction, kinking, aneurysm and thrombosis) and the resultant clinical and echocardiographic presentation in foetuses and neonates.

Methods And Results: This is a retrospective analysis of serial pre- and post-natal data of 27 cases of foetal ductal dysfunction diagnosed at a median gestational age of 33 weeks (range 20-39).

A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy.

Several mutations in mitochondrial transfer RNA (tRNA) genes can cause mitochondrial myopathy. We describe a young girl who presented with pronounced exercise intolerance. The anaerobic threshold and the maximal oxygen consumption were decreased.