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2011 ACCF/AHA Guideline for the Diagnosis and Treatment
, 2011
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Reprints: Information about reprints can be found online at
Prognostic Implications of Novel # Cardiac Myosin Heavy Chain Gene Mutations That Cause Familial Hypertrophic Cardiomyopathy
"... Three novel 63 cardiac myosin heavy chain (MHC) gene mis-sense mutations, Phe513Cys, Gly716Arg, and Arg719Trp, which cause familial hypertrophic cardiomyopathy (FHC) are described. One mutation in exon 15 (Phe513Cys) does not alter the charge of the encoded amino acid, and affected family members ha ..."
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Three novel 63 cardiac myosin heavy chain (MHC) gene mis-sense mutations, Phe513Cys, Gly716Arg, and Arg719Trp, which cause familial hypertrophic cardiomyopathy (FHC) are described. One mutation in exon 15 (Phe513Cys) does not alter the charge of the encoded amino acid, and affected family members have a near normal life expectancy. The Gly716Arg mutation (exon 19; charge change of +1) causes FHC in three family members, one of whom underwent transplantation for heart failure. The Arg719Trp mutation (exon 19; charge change of-1) was found in four unrelated FHC families with a high incidence of premature death and an average life expec-tancy in affected individuals of 38 yr. A comparable high fre-quency of disease-related deaths in four families with the Arg719Trp mutation suggests that this specific gene defect di-rectly accounts for the observed malignant phenotype. Further, the significantly different life expectancies associated with the Arg719Trp vs. Phe513Cys mutation (P < 0.001) support the hypothesis that mutations which alter the charge of the en-coded amino acid affect survival more significantly than those that produce a conservative amino acid change. (J. Clin. Invest.
doi:10.1155/2010/350706 Review Article Cardiac Troponin Mutations and Restrictive Cardiomyopathy
"... Copyright © 2010 Michelle S. Parvatiyar et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Mutations in sarcomeric proteins have ..."
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Copyright © 2010 Michelle S. Parvatiyar et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Mutations in sarcomeric proteins have recently been established as heritable causes of Restrictive Cardiomyopathy (RCM). RCM is clinically characterized as a defect in cardiac diastolic function, such as, impaired ventricular relaxation, reduced diastolic volume and increased end-diastolic pressure. To date, mutations have been identified in the cardiac genes for desmin, α-actin, troponin I and troponin T. Functional studies in skinned muscle fibers reconstituted with troponin mutants have established phenotypes consistent with the clinical findings which include an increase in myofilament Ca 2+ sensitivity and basal force. Moreover, when RCM mutants are incorporated into reconstituted myofilaments, the ability to inhibit the ATPase activity is reduced. A majority of the mutations cluster in specific regions of cardiac troponin and appear to be mutational “hot spots”. This paper highlights the functional and clinical characteristics of RCM linked mutations within the troponin complex. 1.
Amercian journal of
"... psychological distress in hypertrophic cardiomyopathy mutation carriers: a cross-sectional cohort study ..."
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psychological distress in hypertrophic cardiomyopathy mutation carriers: a cross-sectional cohort study
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"... Abstract- Genetic testing for potentially heritable cardiomyopathies has advanced from basic scientific discovery to clinical application. Nowadays, genetic diagnostic tests for cardiomyopathies are clinically available. As a consequence is fundamental the understanding of the clinical utility, in t ..."
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Abstract- Genetic testing for potentially heritable cardiomyopathies has advanced from basic scientific discovery to clinical application. Nowadays, genetic diagnostic tests for cardiomyopathies are clinically available. As a consequence is fundamental the understanding of the clinical utility, in terms of diagnosis and prognosis, of genetic test results. In addition, the genetic counselling, regarding risks, benefits and options, is recommended for all patients and their relatives. However the relation between genotype and phenotype remains often unclear, and there is frequently a variance of uncertain significance. Consequently, the genetic test should always be approached as one component of a comprehensive cardio-genetic evaluation. This review aims to explore when genetic tests are indicated in patients with dilated and hypertrophic cardiomyopathy.
doi:10.1155/2012/685108 Research Article A Novel Myosin Essential Light Chain Mutation Causes Hypertrophic Cardiomyopathy with Late Onset and
, 2012
"... License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Hypertrophic cardiomyopathy (HCM) is caused by mutations in genes encoding sarcomere proteins. Mutations in MYL3, encoding the essential light chain of myosin, are rar ..."
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License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Hypertrophic cardiomyopathy (HCM) is caused by mutations in genes encoding sarcomere proteins. Mutations in MYL3, encoding the essential light chain of myosin, are rare and have been associated with sudden death. Both recessive and dominant patterns of inheritance have been suggested. We studied a large family with a 38-year-old asymptomatic HCM-affected male referred because of a murmur. The patient had HCM with left ventricular hypertrophy (max WT21mm), a resting left ventricular outflow gradient of 36mmHg, and left atrial dilation (54mm). Genotyping revealed heterozygosity for a novel missense mutation, p.V79I, in MYL3. The mutation was not found in 300 controls, and the patient had no mutations in 10 sarcomere genes. Cascade screening revealed a further nine heterozygote mutation carriers, three of whom had ECG and/or echocardiographic abnormalities but did not fulfil diagnostic criteria for HCM. The penetrance, if we consider this borderline HCM the phenotype of the p.V79I mutation, was 40%, but the mean age of the nonpenetrant mutation carriers is 15, while the mean age of the penetrant mutation carriers is 47. The mutation affects a conserved valine replacing it with a larger isoleucine residue in the region of contact between
highlighted topics Plasticity in Skeletal, Cardiac, and Smooth Muscle Invited Review: Pathophysiology of cardiac muscle
"... contraction and relaxation as a result of alterations in thin filament regulation ..."
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contraction and relaxation as a result of alterations in thin filament regulation
Hypertrophic Cardiomyopathy: Low Frequency of Mutations in the -Myosin Heavy Chain (MYH7) and Cardiac Troponin T (TNNT2) Genes among Spanish Patients
"... chain (MYH7) and cardiac troponin T (TNNT2) genes are reportedly responsible for up to 40 % of familial cases with hypertrophic cardiomyopathy (HC). Although there are no mutational hotspots, most of the mutations are located in specific exons of the MYH7 and TNNT2 genes. Currently it is not possibl ..."
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chain (MYH7) and cardiac troponin T (TNNT2) genes are reportedly responsible for up to 40 % of familial cases with hypertrophic cardiomyopathy (HC). Although there are no mutational hotspots, most of the mutations are located in specific exons of the MYH7 and TNNT2 genes. Currently it is not possible to predict the pheno-type in carriers of mutations in these genes, although it is widely accepted that mutations in the MYH7 gene predispose to severe HC, whereas TNNT2 mutations are frequently linked to sudden cardiac death (SCD) in spite of minimal hypertrophy. Methods: We sequenced exons 8, 9, 13–16, 19, 20, 22–24, and 30 of theMYH7 gene and exons 8, 9, 11, and 14–16 of the TNNT2 gene in 30 HC patients (18–60 years of age) from the region of Asturias (Northern Spain); 25 cases
