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Hypertrophic Cardiomyopathy: Infants, Children, and Adolescents
SA Maskatia - Congenital Heart Disease - Wiley Online Library Introduction In 1958, Donald Teare, a British pathologist from St. George's Hospital described
a series of eight cases of asymmetrical hypertrophy or mus- cular hamartoma of the heart. In
all eight cases, he found a bizarre and disorganized arrangement of muscle bundles ...
Within the past 20 years, dramatic advances have been made in the understanding of the genetic basis of HCM. Over 450 mutations in 20 sarcomeric and myofilament related proteins have been identified as causing HCM.2,4,5 The majority are missense, nonsense, or frame shift mutations that carry an autosomal dominant pattern of inheritance. The phenotypic expression of these mutations varies widely, as is evidenced by mutation positive family members of patients affected by HCM, who have little to no appreciable signs of the disease.6 8 Phenotypic expression may be affected by gender, modifier genes, and environmental factors.4 Further complicating the genetic evaluation of HCM, particularly in childhood and infancy, is the presence of nonsarcomeric disease processes that present in a similar fashion.4 Mutations that cause a variety of nonsarcomeric variants of HCM are now included or available in commercially available genetic tests. Currently, only 50 60% of patients who carry the phenotype of HCM are mutation positive, highlighting the importance of ongoing investigation into additional genetic causes of HCM.2,4
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