Left-ventricular non-compaction (LVNC): a clinical feature more often observed in terminal deletion 1p36 than previously expected

European Journal of Medical Genetics
Kirsten CremerDagmar Wieczorek

Abstract

Deletion of 1p36 (OMIM 607872) is estimated to be the most common distal terminal deletion syndrome. We describe a previously unreported, typically affected two-month-old girl with this microdeletion syndrome, who additionally suffers from left-ventricular non-compaction (LVNC). Recently, this congenital heart defect, characterized by prominent left-ventricular trabeculae and deep intertrabecular recesses, was reported in 12 further patients (excluding those reported only in abstract form) with terminal deletion of 1p36, leading to the conclusion that this cardiomyopathy is common in patients with this chromosomal aberration. We hypothesize that a gene in 1p36 might be responsible for LVNC.

References

Mar 6, 2007·European Journal of Medical Genetics·Bernard ThienpontKoen Devriendt
Aug 31, 2007·Clinical Cardiology·Ewa Moric-Janiszewska, Grazyna Markiewicz-Łoskot
Oct 9, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Marzena GajeckaLisa G Shaffer
Nov 21, 2007·Current Opinion in Pediatrics·Michael V ZaragozaJagat Narula

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Citations

Mar 25, 2011·Current Opinion in Cardiology·Nagesh Chopra, Björn C Knollmann
Jun 16, 2010·Heart Failure Reviews·Josef Finsterer
Dec 6, 2012·Clinical Genetics·M C DigilioB Dallapiccola
Nov 26, 2010·American Journal of Medical Genetics. Part a·Marzena GajeckaLisa G Shaffer
Dec 25, 2009·American Journal of Medical Genetics. Part a·Harvinder S DodAbnash C Jain
Dec 19, 2016·Frontiers in Pediatrics·Maria Cristina Digilio, Bruno Marino
Nov 24, 2019·Pediatric Cardiology·Javier Rodriguez-FanjulJoan Sanchez-de-Toledo

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