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Familial Hypertrophic Cardiomyopathy (Cardiomyopathy, Familial Hypertrophic)

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An autosomal dominant inherited form of HYPERTROPHIC CARDIOMYOPATHY. It results from any of more than 50 mutations involving genes encoding contractile proteins such as VENTRICULAR MYOSINS; cardiac TROPONIN T; ALPHA-TROPOMYOSIN.

Also Known As:

Cardiomyopathy, Familial Hypertrophic; Cardiomyopathy, Hypertrophic, Familial; Asymmetric Septal Hypertrophy, Familial; Hereditary Ventricular Hypertrophy; Ventricular Hypertrophy, Familial; Cardiomyopathies, Familial Hypertrophic; Familial Hypertrophic Cardiomyopathies; Familial Ventricular Hypertrophies; Familial Ventricular Hypertrophy; Hereditary Ventricular Hypertrophies; Hypertrophic Cardiomyopathies, Familial; Hypertrophic Cardiomyopathy, Familial; Hypertrophies, Hereditary Ventricular; Hypertrophy, Familial Ventricular; Hypertrophy, Hereditary Ventricular; Ventricular Hypertrophies, Familial; Ventricular Hypertrophies, Hereditary

Networked: 284 relevant articles (2 outcomes, 17 trials/studies) for this Disease, Comments

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Disease Context: Research Results

Related Diseases

1.	Hypertrophy
2.	Heart Failure
3.	Sudden Death
4.	Cardiac Sudden Death (Sudden Cardiac Arrest)
5.	Dilated Cardiomyopathy (Cardiomyopathy, Congestive)

Experts

1.	Carrier, Lucie: 9 articles (01/2010 - 07/2002)
2.	Potter, James D: 9 articles (08/2006 - 04/2002)
3.	Szczesna-Cordary, Danuta: 7 articles (04/2009 - 01/2004)
4.	Seidman, J G: 7 articles (07/2004 - 04/2000)
5.	Potter, J D: 6 articles (07/2001 - 01/2000)
6.	Tardiff, Jil C: 5 articles (08/2009 - 09/2003)
7.	Schwartz, Ketty: 5 articles (07/2009 - 07/2002)
8.	Kerrick, W Glenn L: 5 articles (03/2009 - 10/2003)
9.	Solaro, R John: 5 articles (08/2007 - 01/2002)
10.	Eschenhagen, Thomas: 4 articles (01/2010 - 03/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Familial Hypertrophic Cardiomyopathy:

1.	Cardiac MyosinsIBA 08/01/2001 - "Over 40 different mutations in the cardiac myosin heavy chain gene (MYH7) have been associated with familial hypertrophic cardiomyopathy (FHC), but no study has analyzed variation at this locus within the normal human population. " 08/01/2007 - "A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardiomyopathy in several members of an Indian family." 01/30/2004 - "Familial hypertrophic cardiomyopathy-linked alterations in Ca2+ binding of human cardiac myosin regulatory light chain affect cardiac muscle contraction." 10/15/2002 - "This actin-binding loop is the site of a cardiac myosin-II mutation responsible for some forms of familial hypertrophic cardiomyopathy. " 03/09/2001 - "The effect of the familial hypertrophic cardiomyopathy mutations, A13T, F18L, E22K, R58Q, and P95A, found in the regulatory light chains of human cardiac myosin has been investigated. " Order ALL the reference details at left...
2.	Protein Isoforms (Isoforms)IBA 02/16/2001 - "Multiple mutations within the gene for cardiac MyBP-C, one of three known isoforms, have been linked to familial hypertrophic cardiomyopathy. " 01/01/1996 - "The discovery that mutant MYH isoforms have a causal role in the human disease familial hypertrophic cardiomyopathy (FHC) has implemented structure/function investigations of MYHs. " 10/01/2006 - "Single-molecule laser tweezer studies of cardiac myosin isoforms and their mutants have helped to elucidate the pathogenesis of familial hypertrophic cardiomyopathies. " 11/01/2002 - "This article reviews following aspects of troponin researches: 1) early studies on the structure and function of troponin, 2) molecular mechanisms of Ca(2+)-regulation, 3) principles of troponin-exchange in skinned fibers and properties of troponin isoforms thereafter clarified under physiological conditions, 4) recent studies on the functional consequences of the mutations in human cardiac troponins T and I that cause genetic disorders, familial hypertrophic cardiomyopathy (HCM), and familial dilated cardiomyopathy (DCM)." 01/01/2002 - "Mutations within the genes encoding some myosin isoforms have been found to be responsible for blindness (myosins III and VIIA), deafness (myosins I, IIA, IIIA, VI, VIIA and XV) and familial hypertrophic cardiomyopathy (beta cardiac myosin heavy chain and both the regulatory and essential light chains). " Order ALL the reference details at left...
3.	myosin-binding protein CIBA 03/01/2008 - "Thermal folding molecular dynamics simulations of the domain C5 of Myosin binding protein C were performed using a native-centric model to study the role of three mutations related to Familial Hypertrophic Cardiomyopathy. " 02/15/2008 - "The impact of three mutations of domain C5 from myosin binding protein C, correlated to Familial Hypertrophic Cardiomyopathy, has been assessed through molecular dynamics simulations based on a native centric protein modeling. " 08/01/2004 - "Mutations in the MYBPC3 gene, encoding the sarcomere protein myosin-binding protein C, are among the most frequent causes of autosomal dominant familial hypertrophic cardiomyopathy (FHC). " 08/01/2004 - "Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency." 04/01/2004 - "Myosin binding protein C: structural abnormalities in familial hypertrophic cardiomyopathy." Order ALL the reference details at left...
4.	Ventricular MyosinsIBA 02/17/2009 - "Clinical studies have revealed that the D166V mutation in the ventricular myosin regulatory light chain (RLC) can cause a malignant phenotype of familial hypertrophic cardiomyopathy (FHC). " 09/01/2009 - "A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy." 04/01/2009 - "AIMS: Several mutations in the ventricular myosin regulatory light chain (RLC) were identified to cause familial hypertrophic cardiomyopathy (FHC). " 03/01/2009 - "Malignant familial hypertrophic cardiomyopathy D166V mutation in the ventricular myosin regulatory light chain causes profound effects in skinned and intact papillary muscle fibers from transgenic mice." 08/01/2008 - "The R403Q mutation in beta-myosin heavy chain was the first mutation to be identified as responsible for familial hypertrophic cardiomyopathy (FHC). " Order ALL the reference details at left...
5.	Proteins (Proteins, Gene)IBA 07/01/2009 - "AIMS: Familial hypertrophic cardiomyopathy (FHC) is caused by mutations in genes encoding sarcomeric proteins. " 01/01/2007 - "BACKGROUND: Mutations in virtually all of the proteins comprising the cardiac muscle sarcomere have been implicated in causing Familial Hypertrophic Cardiomyopathy (FHC). " 09/01/2005 - "Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypes." 03/01/2004 - "Familial hypertrophic cardiomyopathy (FHC) is associated with mutations in 11 genes encoding sarcomeric proteins. " 02/06/2004 - "Familial hypertrophic cardiomyopathy (FHC) is a human genetic disorder caused by mutations in sarcomeric proteins. " Order ALL the reference details at left...
6.	Myosin Heavy Chains (Myosin Heavy Chain)IBA 04/01/2003 - "In this study we used a novel approach to examine the functional impact of changes in myosin heavy chain (MHC) isoform expression, as well as the consequences of expressing the mutant MHC implicated in familial hypertrophic cardiomyopathy (FHC). " 12/02/2008 - "[Genetic heterogeneity of myosin heavy chain 7 gene G823E mutation in familial hypertrophic cardiomyopathy in Chinese]" 11/01/2002 - "Functional consequences of mutations in the myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy." 09/08/2000 - "Functional consequences of mutations in the smooth muscle myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy." 11/19/1999 - "The ratio of mutant to wildtype myosin heavy chain (beta-isoform, beta-MHC) in the soleus muscle of patients with familial hypertrophic cardiomyopathy was determined by a combination of HPLC, mass spectrometry and capillary zone electrophoresis. " Order ALL the reference details at left...
7.	Troponin T (T, Troponin)IBA 08/01/2009 - "Naturally occurring mutations in cardiac troponin T (cTnT) result in a clinical subset of familial hypertrophic cardiomyopathy. " 10/01/2008 - "Ile90Met, a novel mutation in the cardiac troponin T gene for familial hypertrophic cardiomyopathy in a Chinese pedigree." 06/01/2007 - "Mutations in cardiac troponin T (cTnT) are linked to a severe form of Familial Hypertrophic Cardiomyopathy. " 11/04/2005 - "F110I and R278C troponin T mutations that cause familial hypertrophic cardiomyopathy affect muscle contraction in transgenic mice and reconstituted human cardiac fibers." 11/01/2005 - "How different mutations in cardiac troponin T (cTnT) lead to distinct secondary downstream cellular remodeling in familial hypertrophic cardiomyopathy (FHC) remains elusive. " Order ALL the reference details at left...
8.	TropomyosinIBA 09/01/2004 - "To study the mechanisms by which missense mutations in alpha-tropomyosin cause familial hypertrophic cardiomyopathy, we generated transgenic rats overexpressing alpha-tropomyosin with one of two disease-causing mutations, Asp(175)Asn or Glu(180)Gly, and analyzed phenotypic changes at molecular, morphological, and physiological levels. " 08/01/2007 - "Rescue of tropomyosin-induced familial hypertrophic cardiomyopathy mice by transgenesis." 12/01/2004 - "Differential scanning calorimetry was used to investigate the thermal unfolding of native alpha-tropomyosin (Tm), wild-type alpha-Tm expressed in Escherichia coli and the wild-type alpha-Tm carrying either of two missense mutations associated with familial hypertrophic cardiomyopathy, D175N or E180G. " 12/01/2004 - "Effects of two familial hypertrophic cardiomyopathy mutations in alpha-tropomyosin, Asp175Asn and Glu180Gly, on the thermal unfolding of actin-bound tropomyosin." 10/01/2004 - "Mutations in the protein alpha-tropomyosin (Tm) can cause a disease known as familial hypertrophic cardiomyopathy. " Order ALL the reference details at left...
9.	Carrier Proteins (Binding Protein)IBA 09/01/2002 - "Functional and spectroscopic studies of a familial hypertrophic cardiomyopathy mutation in Motif X of cardiac myosin binding protein-C." 01/15/2010 - "AIMS: Familial hypertrophic cardiomyopathy (FHC) is frequently caused by cardiac myosin-binding protein C (cMyBP-C) gene mutations, which should result in C-terminal truncated mutants. " 12/01/2009 - "Cardiac myosin binding protein-C (cMyBP-C) is an accessory protein found in the A-bands of vertebrate sarcomeres and mutations in the cMyBP-C gene are a leading cause of familial hypertrophic cardiomyopathy. " 03/24/2009 - "BACKGROUND: Mutations in the MYBPC3 gene, encoding cardiac myosin-binding protein C (cMyBP-C), are a frequent cause of familial hypertrophic cardiomyopathy. " 03/01/2008 - "Mutations in the thick filament associated protein cardiac myosin binding protein-C (cMyBP-C) are a major cause of familial hypertrophic cardiomyopathy. " Order ALL the reference details at left...
10.	Troponin IIBA 12/01/2003 - "In this study, we purified the 30-kDa protein from heart extract and identified it as cardiac troponin I (cTnI), encoded by a gene in which mutations can cause familial hypertrophic cardiomyopathy (HCM). " 03/01/2008 - "AIMS: To understand the functional consequences of the Lys184 deletion in murine cardiac troponin I (mcTnI(DeltaK184)), we have studied the primary effects of this mutation linked to familial hypertrophic cardiomyopathy (FHC) at the sarcomeric level. " 10/01/2006 - "Gene mutations in cardiac troponin I (cTnI) account for up to 5% of genotyped families with familial hypertrophic cardiomyopathy (FHC). " 10/01/2006 - "Molecular insights from a novel cardiac troponin I mouse model of familial hypertrophic cardiomyopathy." 05/10/2005 - "METHODS AND RESULTS: Cardiac troponin I (cTnI) mutations can cause familial hypertrophic cardiomyopathy. " Order ALL the reference details at left...

Therapies and Procedures

1.	Lasers (Laser) 10/01/2006 - "Single-molecule laser tweezer studies of cardiac myosin isoforms and their mutants have helped to elucidate the pathogenesis of familial hypertrophic cardiomyopathies. " Order ALL the reference details at left...
2.	Defibrillators (Defibrillator) 09/01/1998 - "The case of a young primiparous woman with defibrillator-assisted familial hypertrophic cardiomyopathy (HCM) has led us to review the literature on this pathology, which is exceptional because of its scarcity and the originality of the problems encountered. " Order ALL the reference details at left...
3.	Heart Transplantation (Grafting, Heart) 07/01/1993 - "A patient who had undergone cardiac transplantation for familial hypertrophic cardiomyopathy 4 years previously underwent a successful normal spontaneous vaginal delivery. " Order ALL the reference details at left...

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