Evidence map›Paper›PMID 41378457›Full record

ReviewJournal of the American Heart Association2025

What Should a Clinical Cardiologist Know About Cardiogenetics?

Andrea Faggiano, Margherita Maria Calcagnino, Marco Merlo, Matteo Dal Ferro, Francesco Moda, Marta Sanfilippo, Laura Garau, Chiara Giordano, Alessia Paldino, Marta Gigli and 6 more

Abstract readReview
In one paragraph

Review in Journal of the American Heart Association, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

16 authors.

Andrea FaggianoDepartment of Cardio-Thoracic-Vascular Diseases Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.ORCID 0000-0002-3247-3203
Margherita Maria CalcagninoDepartment of Cardio-Thoracic-Vascular Diseases Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.ORCID 0000-0001-9781-0031
Marco MerloCardiothoracovascular Department Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI) and University of Trieste, Member of ERN-Guard Heart Trieste Italy.ORCID 0000-0002-1022-3131
Matteo Dal FerroCardiothoracovascular Department Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI) and University of Trieste, Member of ERN-Guard Heart Trieste Italy.ORCID 0000-0002-2310-0448
Francesco ModaDepartment of Clinical Sciences and Community Health University of Milano Milan Italy.ORCID 0009-0002-0232-0633
Marta SanfilippoDepartment of Clinical Sciences and Community Health University of Milano Milan Italy.
Laura GarauDepartment of Clinical Sciences and Community Health University of Milano Milan Italy.ORCID 0009-0009-2315-0232
Chiara GiordanoDepartment of Clinical Sciences and Community Health University of Milano Milan Italy.
Alessia PaldinoCardiothoracovascular Department Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI) and University of Trieste, Member of ERN-Guard Heart Trieste Italy.ORCID 0000-0002-5823-3777
Marta GigliCardiothoracovascular Department Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI) and University of Trieste, Member of ERN-Guard Heart Trieste Italy.
Stefania PaganiniMedical Genetics Laboratory, Clinical Pathology Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.
Paola CastronovoMedical Genetics Laboratory, Clinical Pathology Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.
Massimiliano RuscicaDepartment of Cardio-Thoracic-Vascular Diseases Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.ORCID 0000-0002-0195-7061
Palma FinelliMedical Genetics Laboratory, Clinical Pathology Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.ORCID 0000-0001-8464-6906
Gianfranco SinagraCardiothoracovascular Department Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI) and University of Trieste, Member of ERN-Guard Heart Trieste Italy.ORCID 0000-0003-2700-8478
Stefano CarugoDepartment of Cardio-Thoracic-Vascular Diseases Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.ORCID 0000-0002-5166-0899

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Inherited cardiovascular diseases are becoming increasingly prominent in clinical practice, significantly impacting diagnosis, risk assessment, and family screening strategies. Progress in genetic testing has broadened access to cardiogenetic evaluations, while also presenting new challenges in interpreting variants and incorporating findings into clinical care. This narrative review explores 20 essential questions that clinical cardiologists may face when dealing with suspected or confirmed inherited cardiac conditions. Organized as a practical, question-driven guide, it outlines when to consider a genetic cause, how to choose and interpret genetic tests, and how to manage patients regardless of their genetic test results. The review emphasizes variant classification based on American College of Medical Genetics and Genomics criteria, the importance of clinical context in interpreting uncertain results, and the principles behind family cascade screening. Particular attention is given to the management of relatives who carry a genetic variant but show no symptoms, and to the current limitations of genetic testing technologies (eg, performance). Ethical considerations, including the appropriate timing of testing in children minors, are also discussed. By connecting genetic insights with clinical cardiology, this review aims to support practical, informed decision making and promote effective collaboration with cardiogenetic specialists.

Indexed as

CardiologistsCardiologyCardiovascular DiseasesGenetic TestingClinical Decision-MakingGenetic Predisposition to DiseaseHumansRisk Assessmentcardiogeneticscardiomyopathiescascade screeningchannelopathiesgenetic testing

Identifiers

PMID41378457
PMCPMC12826912

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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 Socratic graph.