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Apoptosis, a useful marker in the management of hot-phase cardiomyopathy?
Giulia Bassetto1,2, Marco Merlo1,2, Matteo Dal Ferro1,2
1Cardiovascular Department, Center for Diagnosis and Treatment of Cardiomyopathies, Azienda Sanitaria Universitaria Giuliano-Isontina, University of Trieste, Trieste, Italy.
Insights
Hot phases of arrhythmogenic cardiomyopathies present diagnostic challenges. Apoptosis, not inflammation, was prevalent, especially in patients with genetic variants, guiding diagnosis and therapy.
Area of Science:
- Cardiology
- Genetics
- Pathology
Background:
- 'Hot phases' of cardiomyopathies, marked by chest pain and troponin release, mimic acute myocarditis, posing diagnostic difficulties.
- Differentiating arrhythmogenic cardiomyopathies from myocarditis is crucial for appropriate patient management.
Purpose of the Study:
- To investigate histological and genetic features in patients presenting with 'hot-phase' cardiomyopathy.
- To identify potential biomarkers for distinguishing between conditions presenting with similar initial symptoms.
Main Methods:
- A case series of 17 patients hospitalized for suspected 'hot-phase' cardiomyopathy was analyzed.
- Patients underwent endomyocardial biopsy (EMB) for histological analysis (including TUNEL assay for apoptosis) and genetic testing.
Main Results:
- Apoptosis was detected in 77% of patients, while significant inflammation was found in only 35%.
- Pathogenic/likely pathogenic variants in cardiomyopathy genes were identified in 48% of patients, rising to 62% in those with apoptosis.
- All patients without apoptosis tested negative for disease-related variants, and lower ejection fraction was observed in patients with apoptosis.
Conclusions:
- Apoptosis, rather than significant inflammation, is a key feature in 'hot-phase' cardiomyopathy, particularly in those with genetic variants.
- Detecting apoptosis via EMB may aid in directing genetic testing and refining therapeutic strategies for 'hot-phase' cardiomyopathy.
Aims:
'Hot phases', characterized by chest pain and troponin release, may represent the first clinical presentation of arrhythmogenic cardiomyopathies. Differential diagnosis with acute myocarditis is an unmet challenge for the clinicians. We sought to investigate histological and genetic features in patients with cardiomyopathy presenting with hot phases.
Methods And Results:
We evaluated a case series of consecutive patients hospitalized for suspected 'hot-phase cardiomyopathy' in two Italian centres from June 2017 to March 2022 (median follow-up 18 months) that underwent both endomyocardial biopsy (EMB) and genetic testing. Apoptosis was confirmed with TUNEL assay. Among the 17 enrolled patients (mean age 34 ± 15 years, 76% male), only six patients (35%) presented standard histological and immunohistochemical markers for significant cardiac inflammation at EMB. Conversely, apoptosis was found in 13 patients (77%). Genetic testing was positive for a pathogenic/likely pathogenic (P/LP) variant in genes involved in cardiomyopathies (most frequently in DSP) in eight patients (48%), rising to 62% among patients with apoptosis on EMB. Notably, all patients without apoptosis tested negative for P/LP disease-related variants. Left ventricular ejection fraction was lower in patients showing apoptosis at EMB compared to those without (p = 0.003).
Conclusions:
Apoptosis, rather than significant inflammation, was mostly prevalent in this case series of patients with 'hot-phase' presentation, especially in carriers of variants in cardiomyopathy-related genes. Detecting apoptosis on EMB might guide clinicians in performing genetic testing and in more tailored therapeutic choices in 'hot-phase cardiomyopathy'.
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