How Cardiac Cytoarchitecture Can Go Wrong: Hypertrophic Cardiomyopathy as a Paradigm for Genetic Disease of the Heart
作者： Thomas J. Cahill , Katja Gehmlich
DOI: 10.1007/978-3-319-15263-9_11
关键词: Founder mutation 、 Clinical phenotype 、 Heart disorder 、 Disease 、 Bioinformatics 、 Cytoarchitecture 、 Internal medicine 、 Medicine 、 Fabry disease 、 Hypertrophic cardiomyopathy 、 Cardiology
摘要: The genetic cardiomyopathies are a group of inherited heart disorders with variable pathophysiology and clinical phenotype. As an example, hypertrophic cardiomyopathy will be discussed in this chapter. Clinical features therapeutic options outlined, followed by review the underlying genetics disease. pathomechanisms causative mutations discussed, reference to both sarcomeric non-sarcomeric genes. Finally, potential pitfalls next-generation sequencing as applied analysed.
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