Evidence map›Paper›PMID 32964316›Full record

ArticleJournal of applied genetics2020

Intracardiac tumor as a rare manifestation of genetic syndromes-presentation of a family with Gorlin syndrome and a literature review.

Krzysztof Szczałuba, Ewa Makuła, Anna Piórecka-Makuła, Justyna Sicińska, Małgorzata Rydzanicz, Piotr Gasperowicz, Rafał Płoski, Bożena Werner

Open access · hybridAbstract read
In one paragraph

Article in Journal of applied genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.3field-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

5 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Fetal cardiac masses.Pediatric radiology · 2025
    Review
  3. Article
  4. Article
  5. 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

8 authors at 2 institutions in 1 country.

Krzysztof SzczałubaDepartment of Medical Genetics, Medical University of Warsaw, ul Pawinskiego 3c, 02-106, Warsaw, Poland.ORCID https://orcid.org/0000-0001-8803-646X
Ewa MakułaMedical University of Warsaw, Warsaw, Poland.
Anna Piórecka-MakułaDepartment of Pediatric Cardiology and General Pediatrics, Medical University of Warsaw, Warsaw, Poland.ORCID https://orcid.org/0000-0002-5420-3685
Justyna SicińskaClinical Department of Dermatology, Central Clinical Hospital of the MSWiA, Warsaw, Poland.ORCID https://orcid.org/0000-0002-7907-2837
Małgorzata RydzaniczDepartment of Medical Genetics, Medical University of Warsaw, ul Pawinskiego 3c, 02-106, Warsaw, Poland.ORCID https://orcid.org/0000-0002-6969-0535
Piotr GasperowiczDepartment of Medical Genetics, Medical University of Warsaw, ul Pawinskiego 3c, 02-106, Warsaw, Poland.
Rafał PłoskiDepartment of Medical Genetics, Medical University of Warsaw, ul Pawinskiego 3c, 02-106, Warsaw, Poland. rploski@wp.pl.ORCID https://orcid.org/0000-0001-6286-5526
Bożena WernerDepartment of Pediatric Cardiology and General Pediatrics, Medical University of Warsaw, Warsaw, Poland.ORCID https://orcid.org/0000-0002-6416-4106
Medical University of Warsaw · PLCentral Clinical Hospital · PL

Funding

Narodowe Centrum Nauki 2017/27/B/NZ5/02223Warszawski Uniwersytet Medyczny Statutory Grant (SUB.E160.19.004).
6 · The paper itself

Abstract

Intracardiac tumors in children are relatively rare, but their clinical consequences may include severe outflow tract obstruction, embolism, cardiac insufficiency, or rhythm disturbances. In some cases, the tumor may constitute part of a genetic condition and prompt additional investigations, as well as a modification of therapeutic management. Herein, we present a molecularly confirmed familial case of Gorlin syndrome with an early cardiac tumor as a presenting sign. We provide detailed clinical characteristics of the affected individuals and a useful review of syndromic causes of pediatric cardiac tumors in clinical practice.

Indexed as

AdultBasal Cell Nevus SyndromeChildExome SequencingFemaleFibromaHeart NeoplasmsHumansMalePatched-1 ReceptorPatched-1 ReceptorPTCH1 protein, humanCardiac tumorExome sequencingFamilialFibromaGorlin syndrome

Identifiers

PMID32964316
PMCPMC7652740
OpenAlexW3088876211

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.