[Recurrent intracerebral haemorrhage in a 24-year-old female patient]. / Rezidivierende intrazerebrale Blutungen bei einer 24-jährigen Patientin.

A 24-year-old female patient from Sierra Leone was referred to the authors' hospital after several unclear intracerebral bleeding events and an echogenic structure on the aortic valve. The patient was receiving oral anticoagulation therapy due to paroxysmal atrial fibrillation and left ventricular noncompaction. Fluorescence in situ hybridization in combination with polymerase chain reaction and sequencing revealed infective endocarditis of the mitral and aortic valve caused by Bartonella quintana. In retrospect, the intracerebral bleeding events could be identified as septic emboli with secondary haemorrhagic transformation under anticoagulation therapy. The patient showed significant clinical improvement and no further bleeding events occurred after receiving biological mitral and aortic valve replacement and several weeks of doxycycline and gentamicin antibiotic therapy.

Creation of ventricular septal defects on the beating heart in a new pig model.

BACKGROUND/AIMS: So far, surgical and interventional therapies for muscular ventricular septal defects (mVSDs) beyond the moderator band have had their limitations. Thus, alternative therapeutic strategies should be developed. We present a new animal model for the evaluation of such strategies. METHODS: In a pig model (n = 9), anterolateral thoracotomy was performed for exposure of the left ventricle. mVSDs were created under two- and three-dimensional echocardiography with a 7.5-mm sharp punch instrument, which was forwarded via a left ventricular puncture without extracorporeal circulation. RESULTS: Creation of mVSDs was successful in all animals (n = 9) confirmed by echocardiography, hemodynamic measurements and autopsy. The defects were located in the midmuscular (n = 4), apical (n = 1), inlet (n = 2) and anterior part (n = 2) of the muscular septum. All animals were hemodynamically stable for further procedures. The diameter and shunt volume of the mVSDs were 4.8-7.3 mm (mean: 5.9 mm) and 12.9-41.3% (mean: 22.1%), respectively. Autopsy confirmed in all animals the creation of a substantial defect. CONCLUSION: The described new technique for creation of an mVSD on the beating heart in a pig model is suitable for the evaluation of new therapeutic strategies for mVSD closure.

Acute respiratory distress syndrome with transiently impaired left ventricular function and Torsades de Pointes arrhythmia unmasking congenital long QT syndrome in a 25-yr-old woman.

We report a case of recurrent episodes of Torsades de Pointes arrhythmia in the setting of transiently impaired left ventricular ejection fraction, acute respiratory distress syndrome, transient hypokalaemia and QT-prolonging drugs, in a previously healthy 25-yr-old female patient. In the course of the clinical and genetic work-up this patient was newly diagnosed with a mutation in KCNH2 encoding the alpha-subunit of the human repolarizing potassium channel I(Kr). This case report illustrates the multivariate nature of long-QT syndrome, and emphasizes the usefulness of a pharmacological test for repolarization abnormalities.

Interventional embolization of a giant pulmonary arteriovenous malformation with right-left-shunt associated with hereditary hemorrhagic telangiectasia.

A 46-year old woman experienced an episode of arterial desaturation despite administration of 100% oxygen during anesthetization for an elective laparoscopy. Further evaluation revealed a giant pulmonary arteriovenous malformation (PAVM) with right-left shunt associated with previously undiagnosed hereditary hemorrhagic telangiectasia (HHT, Morbus Osler- Weber-Rendu). The PAVM was treated interventionally with an Amplatzer duct occluder. Transcatheter embolization of the PAVM was well tolerated with symptomatic and hemodynamic improvement. CT scan after six months demonstrated correct position of the duct occluder in the left pulmonary artery with nearly complete occlusion of the feeding vessel.PAVMs are rare direct communications between pulmonary arteries and veins, associated with HHT in the majority of cases and often presenting with dyspnea or major neurological complications due to paradoxic embolism. In this case report, we present a rational and stepwise diagnostic workup for this rare medical condition and show that transcatheter embolization is an appropriate treatment for larger malformations.

Long QT syndrome. Why does sex matter?

There is increased awareness of the extent to which cardiac function is influenced by gender. One of the most dramatic and potentially lethal differences is that seen in cardiac repolarization reflected in the QT interval of the surface ECG. Gender differences in QT and QTc intervals have been observed to change during the lifetime in the general population. These differences can be explained to a large extent by sex hormone driven differences in gene expression of myocardial ion channels. Numerous studies have shown that women's risk to suffer arrhythmias in the context of QT prolonging drugs is doubled compared to men. For familial long QT syndrome there is no conclusive evidence for gender effects with respect to disease onset or mortality. Only subgroup analysis by genotype demonstrated a higher risk in female patients carrying mutations in the LQT2 locus. Special attention should be given to drug-induced QT prolongation in women.