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

Subin Jang; Allison Taber; Michael G Bateman; Marie E Steiner; Rebecca K Ameduri; Massimo Griselli

doi:10.3389/fped.2021.653633

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

Front Pediatr. 2021 Jun 7:9:653633. doi: 10.3389/fped.2021.653633. eCollection 2021.

Authors

Subin Jang¹, Allison Taber², Michael G Bateman³, Marie E Steiner², Rebecca K Ameduri⁴, Massimo Griselli¹

Affiliations

¹ Division of Pediatric Cardiac Surgery, Department of Surgery, University of Minnesota Masonic Children's Hospital, Minneapolis, MN, United States.
² Division of Pediatric Critical Care, Department of Pediatrics, University of Minnesota Masonic Children's Hospital, Minneapolis, MN, United States.
³ Department of Surgery, University of Minnesota Masonic Children's Hospital, Minneapolis, MN, United States.
⁴ Division of Pediatric Cardiology, Department of Pediatrics, University of Minnesota Masonic Children's Hospital, Minneapolis, MN, United States.

Abstract

1p36 deletion is the most common terminal deletion syndrome in humans. Herein, we report two cases, a 5-month-old female and a 14.5-year-old female, both with 1p36 deletion and left ventricular non-compaction cardiomyopathy. They presented with severely depressed left ventricle function and underwent heart transplantation with excellent outcomes. Given the incidence of heart defects and cardiomyopathy in 1p36 deletion syndrome, it should be recommended that children with this genetic condition have screening for cardiac disease. These cases add to the current literature by demonstrating the potential therapeutic options for non-compaction in 1p36 deletion syndrome and showed the favorable outcomes.

Keywords: 1p36 deletion syndrome; LVNC; cardiomyopathy; case report; non-compaction.

Publication types

Case Reports