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Spectrum and Outcome of Prenatally Diagnosed Fetal Primary Cardiomyopathies—A Twenty-Year Overview

Objective: to assess the course and outcome of fetuses affected by primary cardiomyopathy (CM). Methods: Retrospective study of 21 cases with prenatal diagnosis of a primary CM in one tertiary center over a period of 20 years. Charts were reviewed for echocardiographic findings, pregnancy outcome, a...

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Autores principales: Walter, Adeline, Calite, Elina, Geipel, Annegret, Strizek, Brigitte, Recker, Florian, Herberg, Ulrike, Berg, Christoph, Gembruch, Ulrich
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10342684/
https://www.ncbi.nlm.nih.gov/pubmed/37445401
http://dx.doi.org/10.3390/jcm12134366
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author Walter, Adeline
Calite, Elina
Geipel, Annegret
Strizek, Brigitte
Recker, Florian
Herberg, Ulrike
Berg, Christoph
Gembruch, Ulrich
author_facet Walter, Adeline
Calite, Elina
Geipel, Annegret
Strizek, Brigitte
Recker, Florian
Herberg, Ulrike
Berg, Christoph
Gembruch, Ulrich
author_sort Walter, Adeline
collection PubMed
description Objective: to assess the course and outcome of fetuses affected by primary cardiomyopathy (CM). Methods: Retrospective study of 21 cases with prenatal diagnosis of a primary CM in one tertiary center over a period of 20 years. Charts were reviewed for echocardiographic findings, pregnancy outcome, and postnatal course. The utility of prenatal evaluation was discussed. Results: The mean gestational age (GA) at diagnosis was 26.7 (±5.1) weeks. A total of 33.3% (7/21) had associated anomalies. Genetic etiology was confirmed in 50.0% (10/20, with one case lost to follow up). The overall survival rate of the entire study population was 40% (8/20) including termination of pregnancy in 20% (4/20) and an intrauterine mortality rate of 5% (1/20). Of the initial survivors (n = 15), a neonatal and early infant mortality rate of 46.7% (7/15) was calculated. Prenatal isolated right ventricular involvement was the only identified significant parameter for survival (p = 0.035). Four phenotypical groups were identified: 42.9% (9/21) hypertrophic (HCM), 38.1% (8/21) dilated (DCM), 14.3% (3/21) isolated noncompaction (NCCM), and 4.8% (1/21) restrictive CM (RCM). Fetuses assigned to isolated NCCM revealed a 100% survival rate. Conclusion: Prenatal detection is feasible but needs to a introduce classification method for better consulting and management practices. A poor outcome is still observed in many cases, but an increase in examiners’ awareness may influence optimal multispecialized care.
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spelling pubmed-103426842023-07-14 Spectrum and Outcome of Prenatally Diagnosed Fetal Primary Cardiomyopathies—A Twenty-Year Overview Walter, Adeline Calite, Elina Geipel, Annegret Strizek, Brigitte Recker, Florian Herberg, Ulrike Berg, Christoph Gembruch, Ulrich J Clin Med Article Objective: to assess the course and outcome of fetuses affected by primary cardiomyopathy (CM). Methods: Retrospective study of 21 cases with prenatal diagnosis of a primary CM in one tertiary center over a period of 20 years. Charts were reviewed for echocardiographic findings, pregnancy outcome, and postnatal course. The utility of prenatal evaluation was discussed. Results: The mean gestational age (GA) at diagnosis was 26.7 (±5.1) weeks. A total of 33.3% (7/21) had associated anomalies. Genetic etiology was confirmed in 50.0% (10/20, with one case lost to follow up). The overall survival rate of the entire study population was 40% (8/20) including termination of pregnancy in 20% (4/20) and an intrauterine mortality rate of 5% (1/20). Of the initial survivors (n = 15), a neonatal and early infant mortality rate of 46.7% (7/15) was calculated. Prenatal isolated right ventricular involvement was the only identified significant parameter for survival (p = 0.035). Four phenotypical groups were identified: 42.9% (9/21) hypertrophic (HCM), 38.1% (8/21) dilated (DCM), 14.3% (3/21) isolated noncompaction (NCCM), and 4.8% (1/21) restrictive CM (RCM). Fetuses assigned to isolated NCCM revealed a 100% survival rate. Conclusion: Prenatal detection is feasible but needs to a introduce classification method for better consulting and management practices. A poor outcome is still observed in many cases, but an increase in examiners’ awareness may influence optimal multispecialized care. MDPI 2023-06-28 /pmc/articles/PMC10342684/ /pubmed/37445401 http://dx.doi.org/10.3390/jcm12134366 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Walter, Adeline
Calite, Elina
Geipel, Annegret
Strizek, Brigitte
Recker, Florian
Herberg, Ulrike
Berg, Christoph
Gembruch, Ulrich
Spectrum and Outcome of Prenatally Diagnosed Fetal Primary Cardiomyopathies—A Twenty-Year Overview
title Spectrum and Outcome of Prenatally Diagnosed Fetal Primary Cardiomyopathies—A Twenty-Year Overview
title_full Spectrum and Outcome of Prenatally Diagnosed Fetal Primary Cardiomyopathies—A Twenty-Year Overview
title_fullStr Spectrum and Outcome of Prenatally Diagnosed Fetal Primary Cardiomyopathies—A Twenty-Year Overview
title_full_unstemmed Spectrum and Outcome of Prenatally Diagnosed Fetal Primary Cardiomyopathies—A Twenty-Year Overview
title_short Spectrum and Outcome of Prenatally Diagnosed Fetal Primary Cardiomyopathies—A Twenty-Year Overview
title_sort spectrum and outcome of prenatally diagnosed fetal primary cardiomyopathies—a twenty-year overview
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10342684/
https://www.ncbi.nlm.nih.gov/pubmed/37445401
http://dx.doi.org/10.3390/jcm12134366
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