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Cardiomyopathy III: Hypertrophic Cardiomyopathy

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: Mar 20, 2026

Author Spotlight: Effect of Left Atrial Ligation on Avian Embryonic Hearts and HLHS Implications

Author Spotlight: Effect of Left Atrial Ligation on Avian Embryonic Hearts and HLHS Implications

Published on: June 16, 2023

Hypoplastic left ventricle and scimitar syndrome.

Aaron W Eckhauser¹, Michael L O'Byrne, Paul M Weinberg

¹Primary Children's Medical Center and Division of Pediatric Cardiothoracic Surgery, Department of Surgery, University of Utah, Salt Lake City, Utah.

The Annals of Thoracic Surgery

|December 4, 2013

Summary

Hypoplastic left ventricle with scimitar syndrome is a rare congenital heart defect. Survivors have undergone heart transplant, Norwood, or Fontan operations, showing varied treatment success.

Keywords:

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Area of Science:

Cardiology
Pediatric Cardiology
Congenital Heart Disease

Background:

Hypoplastic left ventricle (HLV) and scimitar syndrome (SS) are rare, complex congenital heart defects.
The combined anatomy presents unique diagnostic and therapeutic challenges.

Observation:

This study reports on five patients with the co-occurring HLV and SS.
Follow-up data were collected for these patients at a single institution.

Findings:

Four out of five patients with HLV and SS are currently alive.
Survivors achieved this through diverse surgical interventions: two underwent heart transplantation, one had a Norwood operation, and one completed staged palliation with a Fontan operation.

Implications:

This rare combination of congenital heart defects can be managed with various advanced surgical strategies.
Successful outcomes highlight the importance of tailored, staged interventions for complex pediatric cardiac conditions.