Uncovering the gene variants in a global cohort of patients with unexplained increased left ventricular wall thickness using next-generation sequencing.

doi:10.1186/s12872-026-05834-5

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Uncovering the gene variants in a global cohort of patients with unexplained increased left ventricular wall thickness using next-generation sequencing.

BMC cardiovascular disorders - 17 Apr 2026

Arad Michael, Chaves Andrea Virginia Ferreira, Antunes Murillo, Bakhsh Abeer, Berger Kenneth I, Fat Tse Hung, Alves da Fonseca Armando, Furtado Adriana, Maksimova Irina, Marques E Silva Sandra, Maski Manish, Monjes Enrique, Murillo Benitez Nelson E, Ortuño Campos Eduardo, Ribeiro Márcia Gonçalves, Rodriguez-González Maria Juliana, Yu Wen-Chung, Onay Huseyin

Abstract excerpt

BACKGROUND: Genetic analysis using massive parallel sequencing is crucial for the accurate and early diagnosis of hereditary hypertrophic cardiomyopathies and their phenocopies, especially transthyretin cardiac amyloidosis (ATTR-CA) and Fabry disease (FD). This study extends the cardio next-generation sequencing (NGS) pilot study by investigating the detection rate of gene variants causing increased left...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cardiomyopathy, Hypertrophic, Familial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Fabry Disease

Share to High-Throughput Nucleotide Sequencing

Share to Hypertrophy, Left Ventricular

Share to Pilot Projects

Share to Predictive Value of Tests

Share to Ventricular Function, Left

Source

Open in PubMed Open full text

Identifiers

PMID: 41998504
DOI: 10.1186/s12872-026-05834-5
PMCID: PMC13231718

Genes

GLA
TTR
MYBPC3
MYH7
PRKAG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Uncovering the gene variants in a global cohort of patients with unexplained increased left ventricular wall thickness using next-generation sequencing.PMID 41998504Read ↗

Genetic, Clinical, and Sociodemographic Profile in Individuals with Diagnosis or Family History of Hypertrophic Cardiomyopathy: Insights from a Prospective CohortSemantic proximity Read ↗

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.Semantic proximity Read ↗

Genetic determinants of the phenotype in a Swedish cohort of patients with hypertrophic cardiomyopathySemantic proximity Read ↗

Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause MortalitySemantic proximity Read ↗

Atlas of the clinical genetics of human dilated cardiomyopathy.Semantic proximity Read ↗

A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients.Semantic proximity Read ↗

Rare and Common Genetic Variation Underlying the Risk of Hypertrophic Cardiomyopathy in a National Biobank.Semantic proximity Read ↗

Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy.Semantic proximity Read ↗

Family screening for hypertrophic cardiomyopathy: Initial cardiologic assessment, and long-term follow-up of genotype-positive phenotype-negative individuals.Semantic proximity Read ↗

Family screening for hypertrophic cardiomyopathy: initial cardiologic assessment, and long-term follow-up of genotype-positive phenotype-negative individualsSemantic proximity Read ↗

Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study.Semantic proximity Read ↗

Results of comprehensive genetic testing in patients presenting to a multidisciplinary inherited heart disease clinic in India.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.