Concealed Inherited Cardiomyopathies Detected in Cardio-Oncology Screening.

cardio-oncology cardiomyopathy genetics

Journal

Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588

Informations de publication

Date de publication:
19 Dec 2023
Historique:
received: 03 11 2023
revised: 07 12 2023
accepted: 15 12 2023
medline: 11 1 2024
pubmed: 11 1 2024
entrez: 11 1 2024
Statut: epublish

Résumé

Basal cardiovascular risk assessment in cardio-oncology is essential. Integrating clinical information, ECG and transthoracic echocardiogram can identify concealed inherited cardiomyopathies (ICMPs) with potential added risk of cardiotoxicity. We aimed to evaluate the impact of our Cardio-Oncology Unit design in detecting concealed ICMPs. We carried out a retrospective study of all consecutive breast cancer patients referred to the Cardio-Oncology Unit for cardiac evaluation (2020-2022). ICMPs diagnosis was provided according to ESC guidelines and underwent genetic testing. ICMPs prevalence in this cohort was compared to the highest and lowest frequency reported in the general population. Among 591 breast cancer patients, we identified eight patients with ICMPs: one arrhythmogenic cardiomyopathy (ACM), three familial non-ischemic dilated cardiomyopathy (DCM), three hypertrophic cardiomyopathy (HCM) and one left ventricular non-compaction cardiomyopathy (LVNC), which has now been reclassified as non-dilated left ventricular cardiomyopathy. The number of ICMPs identified was within the expected range (neither overdiagnosed nor overlooked): ACM 0.0017 vs. 0.0002-0.001 ( Opportunistic screening of ICMPs during basal cardiovascular risk assessment can identify high-risk cancer patients who benefit from personalized medicine and enables extension of prevention strategies to all available relatives at concealed high cardiovascular risk.

Identifiants

pubmed: 38202009
pii: jcm13010002
doi: 10.3390/jcm13010002
pii:
doi:

Types de publication

Journal Article

Langues

eng

Auteurs

Rebeca Lorca (R)

Área del Corazón, Hospital Universitario Central Asturias, 33011 Oviedo, Spain.
Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain.
Departamento de Biología Funcional. Área de Fisiología, Universidad de Oviedo, 33003 Oviedo, Spain.
Unidad de Cardiopatías Familiares, Área del Corazón y Departamento de Genética Molecular, Hospital Universitario Central Asturias, 33011 Oviedo, Spain.
Redes de Investigación Cooperativa Orientadas a Resultados en Salud (RICORs), 28029 Madrid, Spain.

Isaac Pascual (I)

Área del Corazón, Hospital Universitario Central Asturias, 33011 Oviedo, Spain.
Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain.
Departamento de Medicina, Universidad de Oviedo, 33003 Oviedo, Spain.

Maria Fernandez (M)

Área del Corazón, Hospital Universitario Central Asturias, 33011 Oviedo, Spain.

Rut Alvarez-Velasco (R)

Área del Corazón, Hospital Universitario Central Asturias, 33011 Oviedo, Spain.
Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain.

Santiago Colunga (S)

Área del Corazón, Hospital Universitario Central Asturias, 33011 Oviedo, Spain.
Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain.

Maria Muñiz (M)

Oncología Médica, Hospital Universitario Central Asturias, 33011 Oviedo, Spain.

Marta Izquierdo (M)

Oncología Médica, Hospital Universitario Central Asturias, 33011 Oviedo, Spain.

Yolanda Fernandez (Y)

Oncología Médica, Hospital Universitario Central Asturias, 33011 Oviedo, Spain.

Emilio Esteban (E)

Departamento de Medicina, Universidad de Oviedo, 33003 Oviedo, Spain.
Oncología Médica, Hospital Universitario Central Asturias, 33011 Oviedo, Spain.

Juan Gomez (J)

Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain.
Unidad de Cardiopatías Familiares, Área del Corazón y Departamento de Genética Molecular, Hospital Universitario Central Asturias, 33011 Oviedo, Spain.
Redes de Investigación Cooperativa Orientadas a Resultados en Salud (RICORs), 28029 Madrid, Spain.

Pablo Avanzas (P)

Área del Corazón, Hospital Universitario Central Asturias, 33011 Oviedo, Spain.
Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain.
Departamento de Medicina, Universidad de Oviedo, 33003 Oviedo, Spain.
Centro de Investigación en Red de Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain.

Teresa Lopez-Fernandez (T)

Cardiología, Hospital Universitario la Paz, IdiPAZ Research Institute, 28046 Madrid, Spain.

Classifications MeSH