Cardiomyopathy, Hypertrophic, Familial

Known as: Hypertrophic Cardiomyopathies, Familial, Hereditary Ventricular Hypertrophies, Hypertrophic Cardiomyopathy, Familial 
An autosomal dominant inherited form of HYPERTROPHIC CARDIOMYOPATHY. It results from any of more than 50 mutations involving genes encoding… (More)
National Institutes of Health

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Asymmetric Septal HypertrophyCardiac MyosinsCardiovascular systemChest
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CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
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Papers overview

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Review
2013
Review
2013
Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy is a common inherited cardiovascular disease present in one in 500 of the general population. It is… (More)
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Highly Cited
2003
Highly Cited
2003
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
BACKGROUND Hypertrophic cardiomyopathy is an autosomal-dominant disorder in which 10 genes and numerous mutations have been… (More)
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Highly Cited
2003
Highly Cited
2003
Toward clinical risk assessment in hypertrophic cardiomyopathy with gadolinium cardiovascular magnetic resonance.
OBJECTIVES We sought to assess whether hyperenhancement by gadolinium cardiovascular magnetic resonance (CMR) occurs in… (More)
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Highly Cited
2002
Highly Cited
2002
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.
BACKGROUND Hypertrophic cardiomyopathy, a familial myocardial condition caused by sarcomere protein mutations, is usually… (More)
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Highly Cited
2002
Highly Cited
2002
Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.
Mutations in PRKAG2, the gene for the gamma 2 regulatory subunit of AMP-activated protein kinase, cause cardiac hypertrophy and… (More)
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Highly Cited
1998
Highly Cited
1998
Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.
BACKGROUND Mutations in the gene for cardiac myosin-binding protein C account for approximately 15 percent of cases of familial… (More)
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Review
1998
Review
1998
Familial hypertrophic cardiomyopathy: from mutations to functional defects.
Hypertrophic cardiomyopathy is characterized by left and/or right ventricular hypertrophy, which is usually asymmetric and… (More)
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Review
1995
Review
1995
Hypertrophic cardiomyopathy. Clinical spectrum and treatment.
HCM is a heterogeneous disease genotypically, phenotypically, pathophysiologically, clinically, and therapeutically. In decisions… (More)
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Highly Cited
1995
Highly Cited
1995
Mutations in the cardiac myosin binding protein–C gene on chromosome 11 cause familial hypertrophic cardiomyopathy
Familial hypertrophic cardiomyopathy (FHC) is an autosomal dominant disorder manifesting as cardiac hypertrophy with myocyte… (More)
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Highly Cited
1992
Highly Cited
1992
Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.
BACKGROUND Familial hypertrophic cardiomyopathy is characterized by a variable degree of myocardial hypertrophy and a wide range… (More)
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