title: Left Ventricular Non-compaction: Is It Genetic?
abstract: Left ventricular non-compaction (LVNC) is reported to affect 0.14 % of the pediatric population. The etiology is heterogeneous and includes a wide number of genetic causes. As an illustration, we report two patients with LVNC who were diagnosed with a genetic syndrome. We then review the literature and suggest a diagnostic algorithm to evaluate individuals with LVNC. Case 1 is a 15-month-old girl who presented with hypotonia, global developmental delay, congenital heart defect (including LVNC) and facial dysmorphism. Case 2 is a 7-month-old girl with hypotonia, seizures, laryngomalacia and LVNC. We performed chromosomal microarray for both our patients and detected chromosome 1p36 microdeletion. We reviewed the literature for other genetic causes of LVNC and formulated a diagnostic algorithm, which includes assessment for syndromic disorders, inborn error of metabolism, copy number variants and non-syndromic monogenic disorder associated with LVNC. LVNC is a relatively newly recognized entity, with heterogeneity in underlying etiology. For a systematic approach of evaluating the underlying cause to improve clinical care of these patients, a diagnostic algorithm for genetic evaluation of patients with LVNC is proposed.
authors.affiliation: Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore.|Singhealth Duke-NUS Paediatrics Academic Clinical Programme, Singapore, Singapore.
authors.forename: Teck Wah
authors.initials: TW
authors.lastname: Ting
authors.affiliation: Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore. saumya.s.jamuar@kkh.com.sg.|Singhealth Duke-NUS Paediatrics Academic Clinical Programme, Singapore, Singapore. saumya.s.jamuar@kkh.com.sg.
authors.forename: Saumya Shekhar
authors.initials: SS
authors.lastname: Jamuar
authors.affiliation: KK Research Centre, KK Women's and Children's Hospital, Singapore, Singapore.
authors.forename: Maggie Siewyan
authors.initials: MS
authors.lastname: Brett
authors.affiliation: Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore.|Singhealth Duke-NUS Paediatrics Academic Clinical Programme, Singapore, Singapore.
authors.forename: Ee Shien
authors.initials: ES
authors.lastname: Tan
authors.affiliation: Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore.
authors.forename: Breana Wen Min
authors.initials: BW
authors.lastname: Cham
authors.affiliation: Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore.
authors.forename: Jiin Ying
authors.initials: JY
authors.lastname: Lim
authors.affiliation: Singhealth Duke-NUS Paediatrics Academic Clinical Programme, Singapore, Singapore.|DNA Diagnostic and Research Laboratory, KK Women's and Children's Hospital, Singapore, Singapore.
authors.forename: Hai Yang
authors.initials: HY
authors.lastname: Law
authors.affiliation: KK Research Centre, KK Women's and Children's Hospital, Singapore, Singapore.
authors.forename: Ene Choo
authors.initials: EC
authors.lastname: Tan
authors.affiliation: Singhealth Duke-NUS Paediatrics Academic Clinical Programme, Singapore, Singapore.|Cardiology Service, Department of Paediatric Subspecialties, KK Women's and Children's Hospital, Singapore, Singapore.
authors.forename: Jonathan Tze Liang
authors.initials: JT
authors.lastname: Choo
authors.affiliation: Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore.|Singhealth Duke-NUS Paediatrics Academic Clinical Programme, Singapore, Singapore.
authors.forename: Angeline Hwei Meeng
authors.initials: AH
authors.lastname: Lai
mesh_terms: D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D004569:Electroencephalography; D005260:Female; D006352:Heart Ventricles / Q000002:abnormalities* / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D056830:Isolated Noncompaction of the Ventricular Myocardium / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D020411:Oligonucleotide Array Sequence Analysis
keywords: 1p36 Deletion syndrome; Developmental delay; Diagnostic algorithm; Left ventricular non-compaction; Review of genetic etiology