**Author details**

Ana G. Almeida

Address all correspondence to: anagalmeida@gmail.com; amalmeida@medicina.ulisboa.pt

Faculty of Medicine of Lisbon University, University Hospital Santa Maria/CHLN/Academic Centre of Lisbon University, Cardiovascular Centre of Lisbon University (FCT), Lisbon, Portugal.

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to date no data are available to support these options. For symptomatic ventricular arrhythmias, particularly the ones associated with LV and for heart failure, the treatment should follow current guidelines. In patients with severe LV dysfunction, ICD implantation and CRT therapy are measures to improve heart failure and prevent sudden death. In some cases, heart

The pathogenesis and diagnosis of LVNC remains a challenge. The disease may be secondary to genetic mutations that induce the myocardial pathology. However, phenotypes are heterogeneous, are frequently shared with other cardiomyopathy, suggesting the influence of

The detection of new genetic mutations and the evaluation of its relationship with phenotypes may shed light on the pathogenesis of this condition, which may have an impact on follow‐up

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robust conclusions regarding all the important areas of LVNC including the clinical ground,

Address all correspondence to: anagalmeida@gmail.com; amalmeida@medicina.ulisboa.pt

Faculty of Medicine of Lisbon University, University Hospital Santa Maria/CHLN/Academic Centre of Lisbon University, Cardiovascular Centre of Lisbon University (FCT), Lisbon,

[1] Sedmera D, Pexieder T, Vuillemin M, et al. Developmental patterning of the myocar-

transplantation may be the option for patients with refractory heart failure [41].

**9. Conclusion**

70 Cardiomyopathies - Types and Treatments

and management.

**Acknowledgements**

**Author details**

Ana G. Almeida

Portugal.

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involving large populations, allowing more

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genetics, pathogenesis, diagnosis, and management.

Funding source: Cardiovascular Centre of Lisbon University.


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72 Cardiomyopathies - Types and Treatments


**Non-specific Cardiomyopathies**

### **Inherited Cardiomyopathies: From Genotype to Phenotype Inherited Cardiomyopathies: From Genotype to Phenotype**

Marissa Lopez-Pier, Yulia Lipovka, Eleni Constantopoulos and John P. Konhilas Marissa Lopez-Pier, Yulia Lipovka, Eleni Constantopoulos and John P. Konhilas

Additional information is available at the end of the chapter Additional information is available at the end of the chapter

http://dx.doi.org/10.5772/65393

#### **Abstract**

The heart undergoes extensive morphological, metabolic, and energetic remodeling in response to inherited, or familial, hypertrophic cardiomyopathies (FHC). Myocyte contractile perturbations downstream of Ca2+, the so-called sarcomere-controlled mechanisms, may represent the earliest indicators of this remodeling. We can now state that the *dynamics* of cardiac contraction and relaxation during the progression of FHC are governed by downstream mechanisms, particularly the *kinetics* and *energetics* of actin and myosin interaction to drive the trajectory of pathological cardiac remodeling. This notion is unambiguously supported by elegant studies above linking inheritable FHCcausing mutations to cardiomyopathies, known to disturb contractile function and alter the energy landscape of the heart. Although studies examining the biophysical properties of cardiac myocytes with FHC-causing mutations have yielded a cellular and molecular understanding of myofilament function, this knowledge has had limited translational success. This is driven by a critical failure in elucidating an integrated and sequential link among the changing energy landscape, myofilament function, and initiated signaling pathways in response to FHC. Similarly, there continues to be a major gap in understanding the cellular and molecular mechanisms contributing to sex differences in FHC development and progression. The primary reason for this gap is a lack of a "unifying" or "central" hypothesis that integrates signaling cascades, energetics, sex and FHC.

**Keywords:** hypertrophic cardiomyopathy, sex differences, contractility, sarcomere, mutations

© 2017 The Author(s). Licensee InTech. This chapter is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. © 2017 The Author(s). Licensee InTech. This chapter is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
