An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine.

Maria J Guillen Sacoto, Kimberly A Chapman, Deneen Heath, Mary Beth Seprish, Dina J Zand

Open access · goldAbstract readCase Reports

In one paragraph

Article in Molecular genetics and metabolism reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it

0cells of the map it votes in

2citing papers in PubMed

–field-weighted citation impact, top 96% of its field

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

2 citing papers in PubMed, 3 citations in OpenAlex.

Novel whole blood transcriptome signatures of changes in maximal aerobic capacity in response to endurance exercise training in healthy women.Physiological genomics · 2023
Trial
A case report of a secondary Takotsubo syndrome after sudden cardiac arrest in a teenager with LQTS2.European heart journal. Case reports · 2026
Article

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 1 country.

Maria J Guillen SacotoMedical Genetics Training Program, National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, MSC 3717 Room 1B207, Bethesda, MD 20892-3717, USA.

Kimberly A ChapmanDivision of Genetics and Metabolism, Children's National Medical Center, 111 Michigan Avenue, N.W., Washington D.C. 20010, USA.

Deneen HeathDepartment of Cardiology, Children's National Medical Center, 111 Michigan Avenue, N.W., Washington D.C. 20010, USA.

Mary Beth SeprishDivision of Genetics and Metabolism, Children's National Medical Center, 111 Michigan Avenue, N.W., Washington D.C. 20010, USA.

Dina J ZandDivision of Genetics and Metabolism, Children's National Medical Center, 111 Michigan Avenue, N.W., Washington D.C. 20010, USA.

Children's National · USNational Institutes of Health · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We describe a young girl with dilated cardiomyopathy, long QT syndrome, and possible energy deficiency. Two major sequence changes were identified by whole exome sequencing (WES) and mitochondrial DNA analysis that were interpreted as potentially causative. Changes were identified in the KCNH2 gene and mitochondrial tRNA for cysteine. A variation was also seen in MYPBC3. Since the launch of WES as a clinically available technology in 2010, there has been concern regarding the identification of variants unrelated to the patient's phenotype. However, in cases where targeted sequencing fails to explain the clinical presentation, the underlying etiology could be more complex than anticipated. In this situation, the extensive reach of this tool helped explain both her phenotype and family history.

Indexed as

Dilated cardiomyopathyHearing lossLong QTMitochondrialSensorineural hearing lossWhole exome sequencing

Identifiers

PMID26937396

DOI10.1016/j.ymgmr.2015.03.007

PMCPMC4750614

OpenAlexW1980438215

What OpenQuestion holds

Textmetadata

LicenceCC BY-NC-ND

Read underepoch 390

Registered trials

None linked

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.