New Hopes for Early and Faster Detection of HCM Cardiac Disease
Hypertrophic cardiomyopathy (HCM) is a familial cardiac disease caused by a variety of mutant genes encoding protein components of the cardiac sarcomere, transmitted to each consecutive generation as an autosomal dominant trait with variable penetrance and heterogeneous clinical expression [1]. The traditional approach to screening relatives in hypertrophic cardiomyopathy (HCM) families has been a long arduous process of echocardiography and electrocardiogram ECG on a 12- to 18-month basis, usually beginning at about age 12 years [1]. Until recent discoveries highlighted that the onset of left ventricle hypertrophy can occur well into adulthood; practitioners have assumed that if at the age of twelve that there were no results from the scans that HCM was present then is was most probably absent. Recent advancements in genetics have utilised genetic markers for stratification of sudden death risk and other adverse consequences of HCM. The developments have also highlighted the capability of achieving a diagnosis of HCM with deoxyribonucleic acid (DNA)-based laboratory methods; which is irrefutable and has led to enhanced recognition of the HCM disease state, and consequently to more complete definition of its broad clinical spectrum, as well as providing practical insights into appropriate genetic counselling [1].
Intense studies conducted on the HCM genotype have identified more than 200 mutants responsible for the disease. Two of the HCM-causing mutant genes, beta-myosin heavy chain and myosin-binding protein C, appear to predominate in frequency. The other eight genes appear to account for far fewer cases of HCM and include troponin T and I, regulatory and essential myosin light chains, titin, alpha-tropomyosin, alpha-actin, and alpha-myosin heavy chain. This discovery of the causes of HCM has helped to quicken the screening process for the diseases, leading the way for future studies in finding a cure.
Hypertrophic cardiomyopathy (HCM) is a familial cardiac disease caused by a variety of mutant genes encoding protein components of the cardiac sarcomere, transmitted to each consecutive generation as an autosomal dominant trait with variable penetrance and heterogeneous clinical expression [1]. The traditional approach to screening relatives in hypertrophic cardiomyopathy (HCM) families has been a long arduous process of echocardiography and electrocardiogram ECG on a 12- to 18-month basis, usually beginning at about age 12 years [1]. Until recent discoveries highlighted that the onset of left ventricle hypertrophy can occur well into adulthood; practitioners have assumed that if at the age of twelve that there were no results from the scans that HCM was present then is was most probably absent. Recent advancements in genetics have utilised genetic markers for stratification of sudden death risk and other adverse consequences of HCM. The developments have also highlighted the capability of achieving a diagnosis of HCM with deoxyribonucleic acid (DNA)-based laboratory methods; which is irrefutable and has led to enhanced recognition of the HCM disease state, and consequently to more complete definition of its broad clinical spectrum, as well as providing practical insights into appropriate genetic counselling [1].
Intense studies conducted on the HCM genotype have identified more than 200 mutants responsible for the disease. Two of the HCM-causing mutant genes, beta-myosin heavy chain and myosin-binding protein C, appear to predominate in frequency. The other eight genes appear to account for far fewer cases of HCM and include troponin T and I, regulatory and essential myosin light chains, titin, alpha-tropomyosin, alpha-actin, and alpha-myosin heavy chain. This discovery of the causes of HCM has helped to quicken the screening process for the diseases, leading the way for future studies in finding a cure.
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