Heart failure highlights in 2010

Abstract

Heart failure is still a large medical problem, and the European Journal of Heart Failure remains dedicated to further investigating its pathophysiology and diagnosis, as well as alleviating the symptoms and improving outcome for patients with this disorder.1 In 2010, a large number of important studies have been published, many with exciting results. In this overview, we discuss the results of many of these studies, which have been conducted in a broad range of areas, ranging from pre-clinical research, to co-morbidities, new insights in the genetics of heart failure, and novel guidelines in the field of device therapy.--

Molecular damage inFabry disease: Characterization and prediction of alpha‐galactosidaseApathological mutations

“…In these cases, genetic testing provides a reasonable approach to diagnosis: GLA mutations are identified after sequencing of the GLA gene and subsequently assessed for their damaging effect on the enzyme's function . The latter is straightforward when the variant found has been already described; however, when this is not the case, healthcare professionals face a difficult decision problem, as the mutation may either be pathological or correspond to a polymorphism/neutral mutation with no effect on GLA activity.…”

“…In these cases, genetic testing provides a reasonable approach to diagnosis: GLA mutations are identified after sequencing of the GLA gene and subsequently assessed for their damaging effect on the enzyme's function. [10][11][12][13] The latter is straightforward when the variant found has been already described; 11,14 however, when this is not the case, healthcare professionals face a difficult decision problem, as the mutation may either be pathological or correspond to a polymorphism/neutral mutation 11 with no effect on GLA activity. In this situation, a certain number of bioinformatics tools (Poly-Phen-2, 15 SIFT, 16 Condel,17 NetDiseaseSNP,18 SNAP,19 FATHMM, 20 see also references in Riera et al 21 ) can be used to help establish the pathological character of the mutation.…”

Grading diastolic left ventricular function

“…Assessment of LVEF can be easily performed with multiple techniques, including echocardiography. The diagnosis and treatment of diastolic heart failure (DHF) [or heart failure with a preserved ejection fraction (HFPEF)] is a much bigger challenge –. In 1998, the first criteria for diagnosis of DHF were presented .…”