Evidence map›Paper›PMID 36660067›Full record

ArticleCardiology research2022

Overlapping Phenotype of Adult-Onset

Olga S Chumakova, Natalia V Milovanova, Igor O Bychkov, Ekaterina Y Zakharova, Elena A Mershina, Valentin E Sinitsin, Dmitry A Zateyshchikov

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Cardiology research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
1.5field-weighted citation impact, top 16% 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

4 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.

  1. Pooled it
  2. Novel compound heterozygousFrontiers in cardiovascular medicine · 2025
    Article
  3. Article
  4. 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

7 authors at 4 institutions in 2 countries.

Olga S ChumakovaMoscow Healthcare Department, City Clinical Hospital 17, 119620 Moscow, Russia.ORCID https://orcid.org/0000-0003-2373-1183
Natalia V MilovanovaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID https://orcid.org/0000-0001-9454-5789
Igor O BychkovResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID https://orcid.org/0000-0002-6594-6126
Ekaterina Y ZakharovaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID https://orcid.org/0000-0002-5020-1180
Elena A MershinaMedical Research and Educational Center, Lomonosov Moscow State University, 119991 Moscow, Russia.ORCID https://orcid.org/0000-0002-1266-4926
Valentin E SinitsinMedical Research and Educational Center, Lomonosov Moscow State University, 119991 Moscow, Russia.ORCID https://orcid.org/0000-0002-5649-2193
Dmitry A ZateyshchikovE.I. Chazov National Medical Research Center for Cardiology, 121552 Moscow, Russia.ORCID https://orcid.org/0000-0001-7065-2045
Research Centre for Medical Genetics · RULomonosov Moscow State University · RUCity Clinical Hospital · RUNational Medical Research Center of Cardiology · RU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Inherited cardiomyopathies (CMPs) are fairly common causes of morbidity and mortality, particularly, in young individuals. In substantial number of cases, only morphological diagnostic criteria cannot distinguish one CMP from another because of incomplete penetrance, advanced stage of the disease, or overlapping phenotypes. Genetic testing has become a mandatory tool for definite diagnosis that is required for family screening, individual prognosis, and personalized treatment strategy in routine practice. In parallel, accumulation of genotype-phenotype correlations, especially for rare genes, promotes the deciphering of underling molecular mechanisms and the development of targeting treatment of CMPs. Here we present an adult-onset case comprised morphological features of several CMPs: asymmetric left ventricle (LV) hypertrophy, severe systolic dysfunction, LV hypertrabeculation and restrictive physiology. Using next-generation sequencing, two novel variants (NM_020778.5:c.1958C>G:p.Ser653* and c.3491G>A:p.Arg1164Gln) in alpha-protein kinase 3 (

Indexed as

Alpha kinase 3ALPK3BiallelicDilated cardiomyopathyGenetic testingHypertrophic cardiomyopathyNovel variant

Identifiers

PMID36660067
PMCPMC9822668
OpenAlexW4311616651

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.