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Article
Kommentar zu den Leitlinien 2023 der ESC zum Management von Kardiomyopathien
Die Europäische Gesellschaft für Kardiologie (ESC) präsentiert eine neue Leitlinie für das breite klinische Feld der Kardiomyopathien. Die Leitlinie betont einen phänotypischen Ansatz zur Klassifizierung von K...
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Article
Open AccessCase report: cosegregation of a TPM1 in-frame deletion (p.Lys7del) with familial non-compaction cardiomyopathy (NCCM)
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Chapter
Human Genetics of Cardiac Arrhythmias
Inherited forms of cardiac arrhythmias mostly are rare diseases (prevalence <1:2000) and considered to be either “primary electrical heart disorders” due to the absence of structural heart abnormalities or “ca...
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Article
Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
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Article
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in young adults. With the exception of SCN5A, encoding the cardiac sodium channel NaV1.5, susceptibility genes remain largely u...
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Article
Open AccessA rare cause of sudden unexpected death syndrome (SUDS) in the first year of life: endomyocardial fibroelastosis (EFE) due to two compound heterozygous MYBPC3 mutations
Autopsies regularly aim to clarify the cause of death; however, relatives may directly benefit from autopsy results in the setting of heritable traits (“mortui vivos docent”).
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Article
Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy (ARVC), an inherited heart muscle disease, is characterized by a progressive replacement of viable, in its classic form predominantly right ventricular myocardiu...
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Chapter
Short QT Syndrome
Short QT syndrome is a genetically transmitted disease caused by mutations in different genes that is associated with atrial arrhythmias but more importantly with a severely increased risk of dying suddenly fr...
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Chapter
Einführung in das Herz-Kreislauf-System
Herz-Kreislauf und Atmung sind Systeme, die jede Zelle des menschlichen Körpers, so auch die arbeitende Skelettmuskulatur, mit Sauerstoff und energiereichen Substraten für den aeroben Stoffwechsel versorgen un...
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Chapter
Körperliche Aktivität, Sport, Genetik und kardiovaskuläre Erkrankungen
Regelmäßige körperliche Aktivität hat zahlreiche positive Auswirkungen in der Prävention und Therapie von kardiovaskulären und anderen Erkrankungen. Körperliche Aktivität kann wie ein Medikament mit Wirkung un...
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Article
Open AccessKCNE1 induces fenestration in the Kv7.1/KCNE1 channel complex that allows for highly specific pharmacological targeting
Most small-molecule inhibitors of voltage-gated ion channels display poor subtype specificity because they bind to highly conserved residues located in the channel’s central cavity. Using a combined approach o...
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Article
Open AccessCoding and non-coding variants in the SHOX2 gene in patients with early-onset atrial fibrillation
Atrial fibrillation (AF) is the most prevalent cardiac arrhythmia with a strong genetic component. Molecular pathways involving the homeodomain transcription factor Shox2 control the development and function o...
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Article
Open AccessHuman iPS cell model of type 3 long QT syndrome recapitulates drug-based phenotype correction
Long QT syndrome is a potentially life-threatening disease characterized by delayed repolarization of cardiomyocytes, QT interval prolongation in the electrocardiogram, and a high risk for sudden cardiac death...
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Article
The role of acid-sensitive two-pore domain potassium channels in cardiac electrophysiology: focus on arrhythmias
The current kinetics of two-pore domain potassium (K2P) channels resemble those of the steady-state K+ currents being active during the plateau phase of cardiac action potentials. Recent studies support that K2P ...
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Living Reference Work Entry In depth
Early Repolarization Syndrome
Beim frühen Repolarisationssyndrom („early repolarisation syndrome“, ERS) kommt es am Ende des QRS-Komplexes zu spezifischen EKG-Abnormitäten (J-Punkt-Elevation von mehr als 1 mm in zwei oder mehr benachbarten...
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Living Reference Work Entry In depth
Brugada-Syndrom
Das Brugada-Syndrom ist eine erbliche, heterogene Ionenkanalerkrankung (MIM-Eintrag: 601144), die durch charakteristische rechtspräkordiale EKG-Veränderungen, dem Fehlen von strukturellen Herzauffälligkeiten u...
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Article
Open AccessStructural basis of PI(4,5)P2-dependent regulation of GluA1 by phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP5K2A)
Ionotropic glutamate receptors are the most important excitatory receptors in the central nervous system, and their impairment can lead to multiple neuronal diseases. Here, we show that glutamate-induced curre...
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Article
Erratum: Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death
Nat. Genet. 45, 1044–1049 (2013); published online 21 July 2013; corrected after print 4 October 2013 In the version of this article initially published, Martin Borggrefe and Rainer Schimpf were inadvertently ...
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Article
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death
Connie Bezzina, Richard Redon and colleagues show that common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disorder with high risk of sudden cardiac death. The newly discovered l...
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Article
Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype
Andersen-Tawil syndrome (ATS) is characterized by dysmorphic features, periodic paralyses and abnormal ventricular repolarization. After genoty** a large set of patients with congenital long-QT syndrome, we ...
