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Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...

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Related Experiment Video

Updated: May 9, 2026

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Implications of genetic testing in noncompaction/hypertrabeculation.

Joseph T C Shieh1

  • 1Division of Medical Genetics, Department of Pediatrics, Institute for Human Genetics, University of California San Francisco, UCSF Benioff Children's Hospital, San Francisco, CA, USA. shiehj2@humgen.ucsf.edu

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|July 12, 2013
PubMed
Summary
This summary is machine-generated.

Genetic evaluation strategies for left ventricular noncompaction/hypertrabeculation are crucial for understanding disease causes. This study assesses clinical testing options and genomic variant interpretation to improve patient management.

Keywords:
cardiomyopathygenetic testgenomegenomic medicineinterpretationnoncompactionracevariant

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Area of Science:

  • Cardiovascular Genetics
  • Genomics
  • Pediatric Cardiology

Background:

  • Left ventricular noncompaction/hypertrabeculation is increasingly diagnosed in all age groups.
  • The genetic underpinnings and clinical management strategies for this condition remain poorly understood.
  • Advances in genomic technologies offer new diagnostic possibilities but also introduce complexities.

Purpose of the Study:

  • To present genetic evaluation strategies for noncompaction/hypertrabeculation.
  • To assess current clinical genetic testing options available for this condition.
  • To explore the role of high-throughput sequencing in advancing research and discovery.

Main Methods:

  • Review of genetic testing panels offered by clinical laboratories.
  • Assessment of high-throughput sequencing technologies for genetic discovery.
  • Discussion of challenges in cardiovascular genetics, including variant interpretation and penetrance.

Main Results:

  • Identified genes associated with noncompaction/hypertrabeculation.
  • Evaluated the comprehensiveness and limitations of current clinical genetic tests.
  • Highlighted the potential of advanced sequencing for future research.

Conclusions:

  • Genetic testing is essential for diagnosing and understanding noncompaction/hypertrabeculation.
  • Standardized evaluation strategies and improved variant interpretation are needed for effective clinical management.
  • Genomic technologies hold promise for unraveling the complex genetics of this cardiomyopathy.