Key result
Hypertrophic cardiomyopathy is a rare but important manifestation of various neuromuscular diseases, including mitochondrial dysfunctions, Friedreich's ataxia, and muscular dystrophies.
This review highlights the importance of recognizing hypertrophic cardiomyopathy as a key cardiac manifestation in various neuromuscular and mitochondrial diseases to guide appropriate multidisciplinary management.
Answers are grounded in this paper and cite their sources.
Supports multidisciplinary management of hypertrophic cardiomyopathy in neuromuscular diseases; leaves open prospective validation of screening protocols.
[first paragraph of article]Neuromuscular disorders are frequently associated with cardiac abnormalities, even in pediatric population. Cardiac involvement includes both structural changes and conduction disease. In general, HCM is a rare manifestation of neuromuscular diseases. Autosomal dominant inheritance with mutations in sarcomeric genes are described in about 60% of young adults and adult population with HCM. Other genetic disorders, such as inherited metabolic and neuromuscular diseases and other chromosome abnormalities are responsible of 5–10% of HCM in adults. We review the most frequent neuromuscular diseases related with HCM.
No takes yet. Share an insight, caveat, or question.
Sergi César (2018) conducted a review in Neuromuscular diseases with hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy is a rare but important manifestation of various neuromuscular diseases, including mitochondrial dysfunctions, Friedreich's ataxia, and muscular dystrophies.
Synapse has enriched 10 related papers. Consider them for comparative context: