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Left ventricular noncompaction: a cardiomyopathy often mistaken

Jyoti C Suvarna1, Chandrahas T Deshmukh, Shalini A Hajela

  • 1Department of Pediatrics, Seth GS Medical College and KEM Hospital, Mumbai, India.

Indian Journal of Medical Sciences
|August 25, 2009
PubMed

Insights

Left ventricular noncompaction (LVNC) is a rare genetic heart defect. This study highlights two pediatric cases in India, emphasizing the importance of early diagnosis due to its high mortality and potential for familial occurrence.

Area of Science:

  • Cardiology
  • Genetics
  • Developmental Biology

Background:

  • Left ventricular noncompaction (LVNC) is a rare genetic cardiomyopathy.
  • It results from a defect in endomyocardial morphogenesis during embryonic development.
  • LVNC can be isolated or associated with other congenital heart defects.

Observation:

  • LVNC is characterized by prominent ventricular trabeculations and deep intertrabecular recesses.
  • Clinical manifestations include heart failure, arrhythmias, and thromboembolism, often leading to misdiagnosis.
  • Familial occurrence and high mortality underscore the need for timely diagnosis.

Findings:

  • Presents two pediatric cases from India, one familial with embolism and atrial flutter, the other a 4-month-old with heart failure.
  • The familial case involved an 11-year-old girl who experienced sudden death, a known complication of LVNC.
  • The mother of the 11-year-old had asymptomatic LVNC, indicating potential for varied clinical presentation.

Implications:

  • Highlights the rarity of pediatric LVNC cases reported in India.
  • Emphasizes the diagnostic challenges and the importance of recognizing LVNC in pediatric patients presenting with heart failure or thromboembolic events.
  • Suggests increased awareness and genetic counseling for families with suspected or confirmed LVNC.

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