Evidence map›Paper›PMID 42136867›Full record

ArticleFrontiers in medicine2026

Case Report: Filamin-C (

Polycarp Ndibangwi, Kayla Wagenaar, Nakita Laing, Jacqui Cirota, Careni Spencer, Ntobeko Ntusi, Sarah Kraus, Gasnat Shaboodien

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
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

8 authors.

Polycarp NdibangwiCardiovascular Genetics Laboratory, Department of Medicine, Cape Heart Institute, University of Cape Town, Cape Town, South Africa.
Kayla WagenaarCardiovascular Genetics Laboratory, Department of Medicine, Cape Heart Institute, University of Cape Town, Cape Town, South Africa.
Nakita LaingDepartment of Medicine, Cardiac Clinic, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa.
Jacqui CirotaDepartment of Medicine, Cardiac Clinic, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa.
Careni SpencerDepartment of Medicine, University of Cape Town, Cape Town, South Africa.
Ntobeko NtusiDepartment of Medicine, Cardiac Clinic, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa.
Sarah KrausDepartment of Medicine, Cardiac Clinic, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa.
Gasnat ShaboodienCardiovascular Genetics Laboratory, Department of Medicine, Cape Heart Institute, University of Cape Town, Cape Town, South Africa.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Restrictive cardiomyopathy (RCM) is a rare cause of cardiomyopathy, the etiology of which remains poorly understood and may result from inherited or acquired predispositions to disease, or a combination thereof. Familial RCM 5 (OMIM 617047) usually has autosomal dominant inheritance with most of the identified genes encoding sarcomere or Z-disk proteins. The aim of this study was to determine the disease-causing variant in a South African family diagnosed with RCM. A South African family was screened at Groote Schuur Hospital, and the DNA of the affected individuals were investigated using next-generating sequencing methods with a custom cardiomyopathy panel of 38 genes. Possible RCM-causing variants were selected according to the ACMG/AMP guidelines. Primers were designed, and the Sanger sequencing method was used for variant validation. Segregation analysis was performed after the RCM-causing variant was identified. The family was initially diagnosed with Noonan syndrome-associated cardiomyopathy based on suggestive clinical findings; however, panel screening for Noonan's found no causative gene. The diagnosis was revised, and an alternative cause of RCM was considered. A custom cardiomyopathy panel sequencing found a heterozygous missense NM_001458.5 (

Indexed as

disease-causing variantsfamilial RCM 5filamin-Cnext-generation sequencingrestrictive cardiomyopathy

Identifiers

PMID42136867
PMCPMC13169734

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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.