Methodology of DNA extraction and sequencing from living cardiomyocytes collected by catheter in humans

Flavie Ader, Céline Guilbeau-Frugier, Emeline Lhuillier, Frédéric Martins, Anne Alicia Gonzalez, Anne Rollin, Maxime Beneyto, Céline Gales, Filipe Pires, Jean-José Maoret, Jean-Michel Sénard, Jean Timnou-Bekouti, Eric Villard, Laetitia Duboscq-Bidot, Estelle Gandjbakhch, Philippe Maury
Genetics in Medicine Open. 2026-01-01; 4: 103473
DOI: 10.1016/j.gimo.2025.103473

1. Genet Med Open. 2025 Nov 18;4:103473. doi: 10.1016/j.gimo.2025.103473.
eCollection 2026.

Methodology of DNA extraction and sequencing from living cardiomyocytes
collected by catheter in humans.

Ader F(1)(2)(3), Guilbeau-Frugier C(4)(5), Lhuillier E(5)(6), Martins F(5)(6),
Gonzalez AA(5)(6), Rollin A(4), Beneyto M(4)(5), Gales C(5), Pires F(6), Maoret
JJ(5)(6), Sénard JM(5), Timnou-Bekouti J(4), Villard E(1), Duboscq-Bidot L(1),
Gandjbakhch E(1)(2), Maury P(4)(5).

Author information:
(1)INSERM, UMR_S 1166, Sorbonne Université, Paris, France.
(2)APHP- Sorbonne Université, Unité Fonctionnelle de Cardiogénétique et
Myogénétique Moléculaire, Service de Biochimie Métabolique, CHU Pitié
Salpêtrière- Charles Foix, Paris, France.
(3)Université Paris Cité UFR de Pharmacie, Département 3, Université de Paris,
Paris, France.
(4)Department of Cardiology, University Hospital Rangueil, Toulouse, France.
(5)I2MC, INSERM UMR 1297, Toulouse, France.
(6)GeT-Santé, Plateforme Génome et Transcriptome, GenoToul, Toulouse, France.

PURPOSE: We present here the technical feasibility of percutaneously retrieving
cardiomyocytes (CMs) through the lumen of irrigated ablation catheters, with the
aim of obtaining DNA of sufficient quality/quantity for allowing DNA
amplification, screening, and derived genetic analysis.
METHODS: Irrigated conventional catheters for ablation were used for creating
endocardial right ventricular voltage maps in 38 patients with suspected or
proved arrhythmogenic right ventricular cardiomyopathy. Blood material was
collected from scar areas by aspiration and filtered, CMs detected by light
microscopy were aspirated, centrifugated, and freezed.DNA was extracted,
amplified, and sequenced, and variants were compared with variants obtained from
leukocyte DNA.
RESULTS: At least 1 CM was obtained in 95% of patients (median 11 CM/patient).
After refinements of the technique, a total of 136 samples (22 patients) allowed
DNA extraction and amplification, successful in 60% of samples (16 patients).
DNA capture sequencing of a panel of cardiomyopathy-associated genes was
successfully performed in 14 patients and compared with blood sequencing in 11.
After controlled by Sanger, an additional variant, not present in blood, has
been confirmed in CM in one patient.
CONCLUSION: This new mini-invasive technique of sampling allows to perform
genetic analysis on CMs. Pending future improvements, this technique could
provide new sources of human cells for research and potential mosaicism
detection.