Evidence map›Paper›PMID 41234971›Full record

ArticleCureus2025

A Rare Case of Profound Pulmonary Venous Malformation in an Elderly Individual With Three Major Comorbidities: Genetic Insights.

Andrey Frolov, Sophia Izhar, Samantha M Spence, Beker Karadaghy, Madeleine Schwab, Yun Tan, Daniel T Daly

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In one paragraph

Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Andrey FrolovDepartment of Surgery, Center for Anatomical Science and Education, Saint Louis University School of Medicine, St. Louis, USA.
Sophia IzharDepartment of Surgery, Center for Anatomical Science and Education, Saint Louis University School of Medicine, St. Louis, USA.
Samantha M SpenceDepartment of Surgery, Center for Anatomical Science and Education, Saint Louis University School of Medicine, St. Louis, USA.
Beker KaradaghyDepartment of Surgery, Center for Anatomical Science and Education, Saint Louis University School of Medicine, St. Louis, USA.
Madeleine SchwabDepartment of Surgery, Center for Anatomical Science and Education, Saint Louis University School of Medicine, St. Louis, USA.
Yun TanDepartment of Surgery, Center for Anatomical Science and Education, Saint Louis University School of Medicine, St. Louis, USA.
Daniel T DalyDepartment of Surgery, Center for Anatomical Science and Education, Saint Louis University School of Medicine, St. Louis, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pulmonary veins play a very important role in normal human physiology by providing oxygenated blood flow to the heart, as well as in human pathophysiology by inducing and controlling atrial fibrillation and participating in the propagation of pulmonary neoplasms, such as non-small cell lung cancer. Gaining additional insights into the mechanism(s) of pulmonary venous development (PVD) would benefit our understanding of heart and lung function under normal and clinical conditions. In the current report, we present the results of postmortem genetic screening of an 87-year-old male with a remarkably high number of pulmonary veins - 12 in total - with normal connection, who died of arteriosclerotic heart disease and heart failure with additional comorbidities being prostate and colon cancers. To advance our understanding of molecular mechanisms underlying such anomalous PVD, genetic screening was performed by whole exome sequencing (WES) using the Illumina next-generation sequencing (NGS) platform. The screening revealed 80 genes with rare (minor allele frequency, MAF ≤ 0.01) pathological/deleterious variants. The functional annotation of the affected genes allowed their grouping into subcategories, including angiogenesis, cardiogenesis, cardiovascular disease, heart failure, prostate cancer, and colon cancer. The respective results were consistent with the polygenic nature of the present case, with a significant pleiotropic component and pointed toward an important role of the CRACD gene in the observed anomalous PVD. The other important finding in our study was the apparent existence of a heart failure↔colorectal/prostate cancer axis with a potential involvement of the pleiotropic C2ORF88 gene. The latter, by virtue of its involvement in cardiogenesis and, hence, angiogenesis, could also serve as a hub gene in the putative angiogenesis↔heart failure↔cancer network, which merits further investigation using a large clinical database(s).

Indexed as

accessory pulmonary veinsangiogenesiscardiogenesisgeneticspulmonary venous development

Identifiers

PMID41234971
PMCPMC12610918

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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.