Cargando…

FIP1L1–PDGFRα-Positive Loeffler Endocarditis—A Distinct Cause of Heart Failure in a Young Male: The Role of Multimodal Diagnostic Tools

The presence of the Fip1-Like1-platelet-derived growth factor receptor alpha (FIP1L1–PDGFRα) fusion gene represents a rare cause of hypereosinophilic syndrome (HES), which is associated with organ damage. The aim of this paper is to emphasize the pivotal role of multimodal diagnostic tools in the ac...

Descripción completa

Detalles Bibliográficos
Autores principales: Varga, Andreea, Moldovan, Diana Andreea, Pop, Marian, Benedek, Istvan, Kövecsi, Attila, Dumbrava, Robert Adrian, Iancu, Dragos Gabriel, Cristescu, Liviu, Huma, Laurentiu, Tilea, Ioan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10217393/
https://www.ncbi.nlm.nih.gov/pubmed/37238279
http://dx.doi.org/10.3390/diagnostics13101795
_version_ 1785048526803173376
author Varga, Andreea
Moldovan, Diana Andreea
Pop, Marian
Benedek, Istvan
Kövecsi, Attila
Dumbrava, Robert Adrian
Iancu, Dragos Gabriel
Cristescu, Liviu
Huma, Laurentiu
Tilea, Ioan
author_facet Varga, Andreea
Moldovan, Diana Andreea
Pop, Marian
Benedek, Istvan
Kövecsi, Attila
Dumbrava, Robert Adrian
Iancu, Dragos Gabriel
Cristescu, Liviu
Huma, Laurentiu
Tilea, Ioan
author_sort Varga, Andreea
collection PubMed
description The presence of the Fip1-Like1-platelet-derived growth factor receptor alpha (FIP1L1–PDGFRα) fusion gene represents a rare cause of hypereosinophilic syndrome (HES), which is associated with organ damage. The aim of this paper is to emphasize the pivotal role of multimodal diagnostic tools in the accurate diagnosis and management of heart failure (HF) associated with HES. We present the case of a young male patient who was admitted with clinical features of congestive HF and laboratory findings of hypereosinophilia (HE). After hematological evaluation, genetic tests, and ruling out reactive causes of HE, a diagnosis of positive FIP1L1–PDGFRα myeloid leukemia was established. Multimodal cardiac imaging identified biventricular thrombi and cardiac impairment, thereby raising suspicion of Loeffler endocarditis (LE) as the cause of HF; this was later confirmed by a pathological examination. Despite hematological improvement under corticosteroid and imatinib therapy, anticoagulant, and patient-oriented HF treatment, there was further clinical progression and subsequent multiple complications (including embolization), which led to patient death. HF is a severe complication that diminishes the demonstrated effectiveness of imatinib in the advanced phases of Loeffler endocarditis. Therefore, the need for an accurate identification of heart failure etiology in the absence of endomyocardial biopsy is particularly important for ensuring effective treatment.
format Online
Article
Text
id pubmed-10217393
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-102173932023-05-27 FIP1L1–PDGFRα-Positive Loeffler Endocarditis—A Distinct Cause of Heart Failure in a Young Male: The Role of Multimodal Diagnostic Tools Varga, Andreea Moldovan, Diana Andreea Pop, Marian Benedek, Istvan Kövecsi, Attila Dumbrava, Robert Adrian Iancu, Dragos Gabriel Cristescu, Liviu Huma, Laurentiu Tilea, Ioan Diagnostics (Basel) Case Report The presence of the Fip1-Like1-platelet-derived growth factor receptor alpha (FIP1L1–PDGFRα) fusion gene represents a rare cause of hypereosinophilic syndrome (HES), which is associated with organ damage. The aim of this paper is to emphasize the pivotal role of multimodal diagnostic tools in the accurate diagnosis and management of heart failure (HF) associated with HES. We present the case of a young male patient who was admitted with clinical features of congestive HF and laboratory findings of hypereosinophilia (HE). After hematological evaluation, genetic tests, and ruling out reactive causes of HE, a diagnosis of positive FIP1L1–PDGFRα myeloid leukemia was established. Multimodal cardiac imaging identified biventricular thrombi and cardiac impairment, thereby raising suspicion of Loeffler endocarditis (LE) as the cause of HF; this was later confirmed by a pathological examination. Despite hematological improvement under corticosteroid and imatinib therapy, anticoagulant, and patient-oriented HF treatment, there was further clinical progression and subsequent multiple complications (including embolization), which led to patient death. HF is a severe complication that diminishes the demonstrated effectiveness of imatinib in the advanced phases of Loeffler endocarditis. Therefore, the need for an accurate identification of heart failure etiology in the absence of endomyocardial biopsy is particularly important for ensuring effective treatment. MDPI 2023-05-19 /pmc/articles/PMC10217393/ /pubmed/37238279 http://dx.doi.org/10.3390/diagnostics13101795 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 Case Report
Varga, Andreea
Moldovan, Diana Andreea
Pop, Marian
Benedek, Istvan
Kövecsi, Attila
Dumbrava, Robert Adrian
Iancu, Dragos Gabriel
Cristescu, Liviu
Huma, Laurentiu
Tilea, Ioan
FIP1L1–PDGFRα-Positive Loeffler Endocarditis—A Distinct Cause of Heart Failure in a Young Male: The Role of Multimodal Diagnostic Tools
title FIP1L1–PDGFRα-Positive Loeffler Endocarditis—A Distinct Cause of Heart Failure in a Young Male: The Role of Multimodal Diagnostic Tools
title_full FIP1L1–PDGFRα-Positive Loeffler Endocarditis—A Distinct Cause of Heart Failure in a Young Male: The Role of Multimodal Diagnostic Tools
title_fullStr FIP1L1–PDGFRα-Positive Loeffler Endocarditis—A Distinct Cause of Heart Failure in a Young Male: The Role of Multimodal Diagnostic Tools
title_full_unstemmed FIP1L1–PDGFRα-Positive Loeffler Endocarditis—A Distinct Cause of Heart Failure in a Young Male: The Role of Multimodal Diagnostic Tools
title_short FIP1L1–PDGFRα-Positive Loeffler Endocarditis—A Distinct Cause of Heart Failure in a Young Male: The Role of Multimodal Diagnostic Tools
title_sort fip1l1–pdgfrα-positive loeffler endocarditis—a distinct cause of heart failure in a young male: the role of multimodal diagnostic tools
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10217393/
https://www.ncbi.nlm.nih.gov/pubmed/37238279
http://dx.doi.org/10.3390/diagnostics13101795
work_keys_str_mv AT vargaandreea fip1l1pdgfrapositiveloefflerendocarditisadistinctcauseofheartfailureinayoungmaletheroleofmultimodaldiagnostictools
AT moldovandianaandreea fip1l1pdgfrapositiveloefflerendocarditisadistinctcauseofheartfailureinayoungmaletheroleofmultimodaldiagnostictools
AT popmarian fip1l1pdgfrapositiveloefflerendocarditisadistinctcauseofheartfailureinayoungmaletheroleofmultimodaldiagnostictools
AT benedekistvan fip1l1pdgfrapositiveloefflerendocarditisadistinctcauseofheartfailureinayoungmaletheroleofmultimodaldiagnostictools
AT kovecsiattila fip1l1pdgfrapositiveloefflerendocarditisadistinctcauseofheartfailureinayoungmaletheroleofmultimodaldiagnostictools
AT dumbravarobertadrian fip1l1pdgfrapositiveloefflerendocarditisadistinctcauseofheartfailureinayoungmaletheroleofmultimodaldiagnostictools
AT iancudragosgabriel fip1l1pdgfrapositiveloefflerendocarditisadistinctcauseofheartfailureinayoungmaletheroleofmultimodaldiagnostictools
AT cristesculiviu fip1l1pdgfrapositiveloefflerendocarditisadistinctcauseofheartfailureinayoungmaletheroleofmultimodaldiagnostictools
AT humalaurentiu fip1l1pdgfrapositiveloefflerendocarditisadistinctcauseofheartfailureinayoungmaletheroleofmultimodaldiagnostictools
AT tileaioan fip1l1pdgfrapositiveloefflerendocarditisadistinctcauseofheartfailureinayoungmaletheroleofmultimodaldiagnostictools