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Updated: May 9, 2026
07:11
Morphological and Functional Assessment of the Right Ventricle Using 3D Echocardiography
Published on: October 28, 2020
Disorders of left ventricular trabeculation/compaction or right ventricular wall formation
Joseph T C Shieh1, John L Jefferies, Alvin J Chin
1Division of Medical Genetics, Department of Pediatrics, Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA. shiehj2@humgen.ucsf.edu
Summary
Cardiomyopathies, heart muscle diseases, present in diverse forms like dilated or hypertrophic. Advances in diagnostics increasingly identify these varied conditions, impacting genetic testing and clinical care.
Area of Science:
- Cardiology
- Genetics
- Developmental Biology
Background:
- Cardiomyopathies exhibit significant variability, encompassing dilated, hypertrophic, left ventricular noncompaction/hypertrabeculation, and right ventricular wall disorders.
- Recent diagnostic advancements have led to increased recognition of these diverse cardiac conditions in patients.
Discussion:
- The study explores cardiac pathophysiology, detailing ventricular wall and trabeculae formation from model organisms to human diseases.
- Genetic factors play a crucial role in influencing ventricular phenotypes, offering insights into developmental and disease pathways.
Key Insights:
- Understanding the genetic basis of cardiomyopathies is essential for accurate diagnosis and personalized treatment strategies.
- The spectrum of cardiomyopathies extends beyond common forms, including rarer conditions like left ventricular noncompaction.
Outlook:
- Further research into gene-disease relationships will refine diagnostic testing and improve clinical management of cardiomyopathies.
- Investigating developmental pathways offers potential targets for novel therapeutic interventions in pediatric and adult cardiac diseases.
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