Evidence map›Paper›PMID 30672637›Full record

ReviewAnnals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc2019

Coincidence of Andersen-Tawil syndrome and Marfan syndrome: A case report.

Michalina Krych, Joanna Ponińska, Zofia T Bilińska, Rafał Płoski, Elżbieta K Biernacka

Open access · bronzeAbstract readCase ReportsReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 39% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Coincidence of Andersen-Tawil syndrome and Marfan syndrome: A case report.Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc · 2019
    Review
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.

Michalina KrychDepartment of Congenital Heart Diseases, Institute of Cardiology, Warsaw, Poland.ORCID 0000-0003-0161-5958
Joanna PonińskaDepartment of Medical Biology, Institute of Cardiology, Warsaw, Poland.
Zofia T BilińskaUnit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, Warsaw, Poland.
Rafał PłoskiDepartment of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
Elżbieta K BiernackaDepartment of Congenital Heart Diseases, Institute of Cardiology, Warsaw, Poland.ORCID 0000-0003-3215-5085
Institute of Cardiology · PLMedical University of Warsaw · PL

Funding

Institute of Cardiology 2A.18/VI/12
6 · The paper itself

Abstract

We report on a 44-year-old woman with coincidence of two genetic disorders: Andersen-Tawil syndrome and Marfan syndrome. In both, life-threatening arrhythmias could occur. A 44-year-old woman presented acute ascending aortic dissection with aortic arch involvement and chronic thoracic descending and abdominal aortic dissection. Clinical and genetic examination confirmed Marfan syndrome (MFS) diagnosis. Due to repolarization disorder in ECG and premature ventricular contractions in Holter ECG, the sequencing data were analyzed again and mutation in KCNJ2 gene was identified. The case showed that coincidence of Andersen-Tawil syndrome (ATS) and MFS did not provoke life-threatening arrhythmias. Complication was rather caused by expression of FBN1 mutation.

Indexed as

Genetic Predisposition to DiseaseAdipokinesAdultAndersen SyndromeAortic Aneurysm, ThoracicAortic DissectionElectrocardiographyEmergency Service, HospitalFemaleFibrillin-1G Protein-Coupled Inwardly-Rectifying Potassium ChannelsHumansMarfan SyndromeMonitoring, PhysiologicMultimorbidityMutationAdipokinesFBN1 protein, humanFibrillin-1G Protein-Coupled Inwardly-Rectifying Potassium ChannelsKCNJ2 protein, humanKCNJ5 protein, humanPotassium Channels, Inwardly RectifyingAndersen-Tawil syndromelong QT syndromeMarfan syndromethoracic aortic aneurysms and dissections

Identifiers

PMID30672637
PMCPMC6931863
OpenAlexW2911666315

What OpenQuestion holds

Textmetadata
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.