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Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives.

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Autores

Autores externos

  • Cabrera-Romero E
  • Ochoa JP
  • Barriales-Villa R
  • Bermúdez-Jiménez FJ
  • Climent-Payá V
  • Zorio E
  • Espinosa MA
  • Gallego-Delgado M
  • Navarro-Peñalver M
  • Arana-Achaga X
  • Espejo-Bares V
  • Rodríguez-Palomares JF
  • Lacuey-Lecumberri G
  • López J
  • Tiron C
  • Peña-Peña ML
  • García-Pinilla JM
  • Lorca R
  • Ripoll-Vera T
  • Díez-López C
  • Mogollon MV
  • García-Álvarez A
  • Martínez-Dolz L
  • Brion M
  • Larrañaga-Moreira JM
  • Jiménez-Jáimez J
  • García-Álvarez MI
  • Vilches S
  • Villacorta E
  • Sabater-Molina M
  • Solla-Ruiz I
  • Royuela A
  • Domínguez F
  • Mirelis JG
  • Garcia-Pavia P

Grupos de investigación

Abstract

BACKGROUND: Disease penetrance in genotype-positive (G+) relatives of families with dilated cardiomyopathy (DCM) and the characteristics associated with DCM onset in these individuals are unknown. OBJECTIVES: This study sought to determine the penetrance of new DCM diagnosis in G+ relatives and to identify factors associated with DCM development. METHODS: The authors evaluated 779 G+ patients (age 35.8 ± 17.3 years; 459 [59%] females; 367 [47%] with variants in TTN) without DCM followed at 25 Spanish centers. RESULTS: After a median follow-up of 37.1 months (Q1-Q3: 16.3-63.8 months), 85 individuals (10.9%) developed DCM (incidence rate of 2.9 per 100 person-years; 95% CI: 2.3-3.5 per 100 person-years). DCM penetrance and age at DCM onset was different according to underlying gene group (log-rank P = 0.015 and P <0.01, respectively). In a multivariable model excluding CMR parameters, independent predictors of DCM development were: older age (HR per 1-year increase: 1.02; 95% CI: 1.0-1.04), an abnormal electrocardiogram (HR: 2.13; 95% CI: 1.38-3.29); presence of variants in motor sarcomeric genes (HR: 1.92; 95% CI: 1.05-3.50); lower left ventricular ejection fraction (HR per 1% increase: 0.86; 95% CI: 0.82-0.90) and larger left ventricular end-diastolic diameter (HR per 1-mm increase: 1.10; 95% CI: 1.06-1.13). Multivariable analysis in individuals with cardiac magnetic resonance and late gadolinium enhancement assessment (n = 360, 45%) identified late gadolinium enhancement as an additional independent predictor of DCM development (HR: 2.52; 95% CI: 1.43-4.45). CONCLUSIONS: Following a first negative screening, approximately 11% of G+ relatives developed DCM during a median follow-up of 3 years. Older age, an abnormal electrocardiogram, lower left ventricular ejection fraction, increased left ventricular end-diastolic diameter, motor sarcomeric genetic variants, and late gadolinium enhancement are associated with a higher risk of developing DCM.

Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.

Datos de la publicación

ISSN/ISSNe:
0735-1097, 1558-3597

JACC-JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY  ELSEVIER SCIENCE INC

Tipo:
Article
Páginas:
1640-1651
PubMed:
38658103

Citas Recibidas en Web of Science: 13

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Keywords

  • dilated cardiomyopathy; genetics; late gadolinium enhancement; penetrance

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