Chapter 15 - Cardio-Skeletal Muscle Disease Associated With Syndromes

https://doi.org/10.1016/B978-0-12-800040-3.00015-7Get rights and content

Abstract

Cardiomyopathies develop in some genetic syndromes and chromosomal disorders. These patients may have defects encoding genes causing inborn errors of metabolism, nuclear genes, structural genes, or transcription factors. Inborn errors of metabolism affecting mitochondrial energy-producing pathways result in metabolic disorders with an extraordinarily variable phenotype. Mitochondrial diseases can be caused by mutations in any of the more than 1000 mitochondrial and nuclear genes. Mitochondrial-nuclear genome interactions may also contribute to the pathological mechanisms of disease. Environmental and physiological stress exacerbates pathology, adding another layer of complexity to the diagnosis and the therapeutic interventions performed. These disorders typically demonstrate abnormalities of skeletal and cardiac muscle, as well as the central nervous system. Other defects, including those caused by chromosomal abnormalities, may also result in multisystem disorders that include the heart and skeletal muscle. These disorders are described in this chapter.

References (0)

Cited by (0)

View full text