English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

See article by Havndrup et al. [1] (pages 347 –357) in high incidence of SCD (in the MYH7 ( b myosin heavy this issue. chain gene) and in the TNNT2 (cardiac troponin T gene)) whereas others appear to have a more ‘benign’ course [8,9]. 1 . Introduction Therefore, for both the patient and the doctor, there is a clear need to have a tool in hand: (1) to estimate the During the last decade, there was a major breakthrough patient’s risk for SCD and with it the patient’s prognosis; in the molecular genetics of hypertrophic cardiomyopathy (2) to evaluate HCM relatives pre-symptomatically; and (HCM) and a total of nine genes could be identified to (3) to examine molecular testing as diagnostic (or even cause HCM (for review see [2]). Since all of these genes potentially as prenatal) tool. In these respects, several code for sarcomeric proteins, it has been hypothesised that conventional cardiological methods (such as ECG, stress HCM is a disease of the sarcomere [3]. The abnormal ECG, Holter monitoring, invasive electrophysiological function of the sarcomere is, thus, the primary and examination, etc.) have been examined and proven to be of hypertrophy of the myocardium the secondary abnormality limited value [7,10]. [4,5]. In this issue, Havndrup et al. report on the role of However, HCM exposes phenotypic heterogeneity molecular genetics as a medical tool in clinical practice. which means that with a certain gene mutation (e.g. a The authors support this new tool for a better diagnosis mutation in theb-MHC gene), there is a wide range of and for an improved management of both, HCM patients clinical features, such as a variable degree of LV hyand their families [1]. Sixty-eight index cases with HCM pertrophy, a variable age of onset, and a variable degree of were investigated and of the MYH7 gene the exons 3–23 risk for sudden cardiac death (SCD) [6]. Furthermore, the (where almost all mutations are located) were screened for risk for SCD is probably not directly related to the extent mutations. Eight different mutations were found in nine or the severity of LV hypertrophy [7]. Interestingly, index cases (13% of all 68 HCM patients), and the accumulating data support the role of the genetic heteromutations were associated with an adverse prognosis. A geneity (different genes, different mutations) to explain, at total of 327 relatives of index patients were then investileast in part, the phenotypic heterogeneity of the disease. gated using both, conventional cardiological tools and Some mutations have been associated with particularly molecular genetic testing. A comparison of the clinical and the genetic examinations was performed. Conventional cardiological examination was characterised by both, a low positive and a low negative predictive value. In contrast, *Corresponding author. Tel.: 149-941-944-7211; fax:149-941-944the authors found that molecular screening correctly 7235. identified genetically affected relatives (17%) and geE-mail address: christian.hengstenberg@klinik.uni-regensburg.de (C. Hengstenberg). netically unaffected relatives (83%).

cardiovascular research

Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations Prediction of clinical status—is molecular genetics a new tool for the management of hypertrophic cardiomyopathy in clinical practice?