Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.

Mitochondrial complex I deficiency is the most frequent mitochondrial disorder presenting in childhood and the mutational spectrum is highly heterogeneous. The NDUFB11 gene is one of the recently identified genes, which is located in the short arm of the X-chromosome. Here we report clinical, biochemical, functional and genetic findings of two male patients with lactic acidosis, hypertrophic cardiomyopathy and isolated complex I deficiency due to de novo hemizygous mutations (c.

Severe Valvular Regurgitation: An Unexpected Complication During Transapical Aortic Valve Implantation Treated Successfully with the "Valve-in-Valve" Procedure.

Severe symptomatic aortic stenosis (AS) in a multimorbid 77 year old female was treated with transapical aortic valve implantation with a 23 mm Edwards Sapien valve. Severe valvular regurgitation following implantation, probably due to structural valve failure, was treated successfully with a second valve-in-valve implantation. During a follow-up time of 2,5 years no further problems occurred.

Left Atrial Appendage (LAA) Closure-Device Disengagement as a Serious Complication and How it Can Be Easily Removed.

A stroke attack in the brainstem area as a serious complication of atrial fibrillation (AF) in a 51 year old woman with known paroxysmal AF (CHADS(2) score 3) was treated with LAA occlusion procedure after the complication of arterial bleeding secondary to anticoagulation therapy. LAA closure device embolisation was developed following the LAA occlusion procedure. The device was located and removed successfully from the systemic circulation.