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GTR Home > Tests > Cardiomyopathy, familial hypertrophic: Full gene sequencing panel

Indication

This is a clinical test intended for Help: Diagnosis, Risk Assessment, Mutation Confirmation

Clinical summary

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Imported from OMIM

CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600). An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (188840), and MYL3 (160790) genes has also been reported in 1 family.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Hypertrophic cardiomyopathy
  • Endocardial fibroelastosis
  • Cardiac arrest
  • Cardiomegaly
  • Congestive heart failure
  • Mitral regurgitation
  • Pterygium
  • Tricuspid regurgitation
  • Prolonged QT interval
  • Right ventricular hypertrophy
  • Concentric hypertrophic cardiomyopathy
  • Ventricular septal hypertrophy
  • Non-immune hydrops fetalis
  • Left ventricular diastolic dysfunction
  • Ventriculomegaly
  • Impaired myocardial contractility
  • Cardiomyocyte hypertrophy
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Conditions tested

Target population

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Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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