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1p36 Deletion Syndrome and Left Ventricular Non-compaction Cardiomyopathy-Two Cases Report

Subin Jang1, Allison Taber2, Michael G Bateman3

  • 1Division of Pediatric Cardiac Surgery, Department of Surgery, University of Minnesota Masonic Children's Hospital, Minneapolis, MN, United States.

Frontiers in Pediatrics
|June 24, 2021
PubMed

Insights

1p36 deletion syndrome, a common genetic disorder, is linked to left ventricular non-compaction cardiomyopathy. Early cardiac screening and heart transplantation offer favorable outcomes for affected children.

Area of Science:

  • Genetics
  • Cardiology
  • Pediatrics

Background:

  • 1p36 deletion syndrome is the most common terminal deletion syndrome.
  • Cardiomyopathy and congenital heart defects are frequently observed in individuals with 1p36 deletion syndrome.

Observation:

  • Two cases of 1p36 deletion syndrome presenting with left ventricular non-compaction cardiomyopathy are detailed.
  • Both patients exhibited severely depressed left ventricular function, necessitating heart transplantation.

Findings:

  • Heart transplantation yielded excellent outcomes for both patients with 1p36 deletion syndrome and non-compaction cardiomyopathy.
  • These cases highlight the potential for successful therapeutic interventions in this patient population.

Implications:

  • Routine cardiac screening is recommended for all children diagnosed with 1p36 deletion syndrome.
  • Early detection and management of cardiac complications can significantly improve prognosis in 1p36 deletion syndrome.

Keywords:
1p36 deletion syndromeLVNCcardiomyopathycase reportnon-compaction

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