Evidence map›Paper›PMID 26108892›Full record

ReviewPediatric cardiology2015

Left Ventricular Non-compaction: Is It Genetic?

Teck Wah Ting, Saumya Shekhar Jamuar, Maggie Siewyan Brett, Ee Shien Tan, Breana Wen Min Cham, Jiin Ying Lim, Hai Yang Law, Ene Choo Tan, Jonathan Tze Liang Choo, Angeline Hwei Meeng Lai

Abstract readCase ReportsReview
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In one paragraph

Review in Pediatric cardiology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Pediatric Cardiomyopathies.Circulation research · 2017
    Review
  2. Article
  3. Article
  4. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors.

Teck Wah TingGenetics Service, Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore.
Saumya Shekhar JamuarGenetics Service, Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore. saumya.s.jamuar@kkh.com.sg.
Maggie Siewyan BrettKK Research Centre, KK Women's and Children's Hospital, Singapore, Singapore.
Ee Shien TanGenetics Service, Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore.
Breana Wen Min ChamGenetics Service, Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore.
Jiin Ying LimGenetics Service, Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore.
Hai Yang LawSinghealth Duke-NUS Paediatrics Academic Clinical Programme, Singapore, Singapore.
Ene Choo TanKK Research Centre, KK Women's and Children's Hospital, Singapore, Singapore.
Jonathan Tze Liang ChooSinghealth Duke-NUS Paediatrics Academic Clinical Programme, Singapore, Singapore.
Angeline Hwei Meeng LaiGenetics Service, Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Chromosome DeletionChromosome DisordersChromosomes, Human, Pair 15Developmental DisabilitiesElectroencephalographyFemaleHeart VentriclesHumansInfantIsolated Noncompaction of the Ventricular MyocardiumMagnetic Resonance ImagingOligonucleotide Array Sequence Analysis1p36 Deletion syndromeDevelopmental delayDiagnostic algorithmLeft ventricular non-compactionReview of genetic etiology

Identifiers

PMID26108892

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.