Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

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… Expand
National Institutes of Health

Related topics

Related topics

28 relations
Asymmetric Septal HypertrophyCardiac MyosinsCardiovascular systemChest
Expand

Narrower (11)

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
Expand

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2013
Highly Cited
2013
Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells.
Familial hypertrophic cardiomyopathy (HCM) is a prevalent hereditary cardiac disorder linked to arrhythmia and sudden cardiac… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Highly Cited
2012
Highly Cited
2012
Truncations of titin causing dilated cardiomyopathy.
BACKGROUND Dilated cardiomyopathy and hypertrophic cardiomyopathy arise from mutations in many genes. TTN, the gene encoding the… Expand
  • figure 1
  • table 1
  • table 2
  • figure 2
  • figure 3
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… Expand
  • table 2
  • table 1
  • table 3
  • table 4
  • table 5
Highly Cited
2001
Highly Cited
2001
Tissue Doppler Imaging Consistently Detects Myocardial Abnormalities in Patients With Hypertrophic Cardiomyopathy and Provides a Novel Means for an Early Diagnosis Before and Independently of…
Background—Left ventricular hypertrophy (LVH), the clinical hallmark of familial hypertrophic cardiomyopathy (FHCM), is absent in… Expand
  • table 1
  • table 2
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… Expand
Highly Cited
1995
Highly Cited
1995
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.
BACKGROUND Familial hypertrophic cardiomyopathy can be caused by mutations in the genes for beta cardiac myosin heavy chain… Expand
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… Expand
Highly Cited
1995
Highly Cited
1995
Cardiac myosin binding protein–C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy
Familial hypertrophic cardiomyopathy (FHC) is an autosomal dominant disease characterized by a ventricular hypertrophy… Expand
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… Expand
Highly Cited
1990
Highly Cited
1990
A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutation
A point mutation in exon 13 of the beta cardiac myosin heavy chain (MHC) gene is present in all individuals affected with… Expand
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License
ACCEPT & CONTINUE