Cardiotoxicity is not always the only explanation - a case report Article Swipe

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Andreea-Madalina Varvara , Irina Serban , Ruxandra Jurcuţ ·

YOU? · · 2025 · Open Access · · DOI: https://doi.org/10.2478/rjc-2025-0033

Cisplatin is a platinum-based chemotherapeutic agent; in fact, it is known as a vasculotoxic agent, but there are some case reports describing mild myocardial dysfunction related to cisplatin-based chemotherapy. Truncating variants in the titin (TTN) gene are rare in cardiomyopathy genes, but they are known to occur more frequently among cancer patients with cancer therapy-induced cardiomyopathy. We present the case of a 54-year-old female who was brought to the emergency room with shortness of breath at mild exertion. Biologically, we noted elevated N-terminal prohormone of brain natriuretic peptide (NT-proBNP) at 5453 pg/mL. Her medical history includes six series of cisplatin-based chemotherapy for invasive cervical carcinoma at 47 years old with subsequent remission. The electrocardiography (ECG) noted sinus rhythm and T-wave inversion in inferior and lateral leads. The transthoracic echocardiography (TTE) revealed a dilated left ventricle with severe diffuse hypokinesia of the walls, an estimated ejection fraction of 15%, systolic dysfunction of the right ventricle, and severe mitral functional regurgitation. Her family history includes her mother being diagnosed with cardiomyopathy and sudden cardiac death (SCD) at 54 years old and a brother with SCD at 34 years old. Furthermore, the systolic dysfunction seems to be caused by more than just the cardiotoxic effects of platinum-based chemotherapy. This, corroborated with the family history, rather advocates for a possible genetic etiology, so we performed genetic testing, which detected a likely pathogenic mutation in the TTN gene (c.64915C>T, p (Arg21639Ter). Additionally, a unicameral implantable cardioverter-defibrillator was considered for primary prevention of SCD. The present case illustrates the importance of baseline cardiac evaluation of the patients receiving cardiotoxic chemotherapy. The identification of genetic risk factors helps us to identify patients at high risk for developing cardiomyopathies secondary to chemotherapy and associated adverse outcomes.

Related Topics

Dilated Cardiomyopathy

Supraventricular Tachycardia

Ventricular Fibrillation

Titin

Stupor

Sick Sinus Syndrome

Concepts

Medicine Cardiology Internal medicine Cardiomyopathy Sudden cardiac death Dilated cardiomyopathy Cardiotoxicity Ejection fraction Sudden death Heart failure Electrocardiography Family history Hypokinesia Ventricle Genetic testing Asymptomatic Gene mutation Atrial fibrillation Supraventricular arrhythmia Ventricular fibrillation Sinus rhythm Titin Stupor Past medical history Sick sinus syndrome

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Type: article
Language: en
Landing Page: https://doi.org/10.2478/rjc-2025-0033
PDF: https://reference-global.com/2/v2/download/article/10.2478/rjc-2025-0033.pdf
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References: 19
OpenAlex ID: https://openalex.org/W7106709767

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DOI: https://doi.org/10.2478/rjc-2025-0033

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Title: Cardiotoxicity is not always the only explanation - a case report

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Language: en

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Publication year: 2025

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Publication date: 2025-11-26

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Authors: Andreea-Madalina Varvara, Irina Serban, Ruxandra Jurcuţ

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Landing page: https://doi.org/10.2478/rjc-2025-0033

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Concepts: Medicine, Cardiology, Internal medicine, Cardiomyopathy, Sudden cardiac death, Dilated cardiomyopathy, Cardiotoxicity, Ejection fraction, Sudden death, Heart failure, Electrocardiography, Family history, Hypokinesia, Ventricle, Genetic testing, Asymptomatic, Gene mutation, Atrial fibrillation, Supraventricular arrhythmia, Ventricular fibrillation, Sinus rhythm, Titin, Stupor, Past medical history, Sick sinus syndrome

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abstract_inverted_index.which	224
abstract_inverted_index.years	108, 177, 186
abstract_inverted_index.T-wave	120
abstract_inverted_index.agent,	15
abstract_inverted_index.agent;	6
abstract_inverted_index.breath	75
abstract_inverted_index.cancer	51, 54
abstract_inverted_index.caused	195
abstract_inverted_index.family	161, 210
abstract_inverted_index.female	64
abstract_inverted_index.genes,	41
abstract_inverted_index.leads.	126
abstract_inverted_index.likely	227
abstract_inverted_index.mitral	157
abstract_inverted_index.mother	165
abstract_inverted_index.pg/mL.	92
abstract_inverted_index.rather	212
abstract_inverted_index.rhythm	118
abstract_inverted_index.series	98
abstract_inverted_index.severe	137, 156
abstract_inverted_index.sudden	171
abstract_inverted_index.walls,	142
abstract_inverted_index.adverse	287
abstract_inverted_index.brother	181
abstract_inverted_index.brought	67
abstract_inverted_index.cardiac	172, 257
abstract_inverted_index.diffuse	138
abstract_inverted_index.dilated	133
abstract_inverted_index.effects	202
abstract_inverted_index.factors	270
abstract_inverted_index.genetic	217, 222, 268
abstract_inverted_index.history	95, 162
abstract_inverted_index.lateral	125
abstract_inverted_index.medical	94
abstract_inverted_index.peptide	88
abstract_inverted_index.present	58, 250
abstract_inverted_index.primary	245
abstract_inverted_index.related	26
abstract_inverted_index.reports	21
abstract_inverted_index.Abstract	0
abstract_inverted_index.baseline	256
abstract_inverted_index.cervical	104
abstract_inverted_index.detected	225
abstract_inverted_index.ejection	145
abstract_inverted_index.elevated	82
abstract_inverted_index.fraction	146
abstract_inverted_index.history,	211
abstract_inverted_index.identify	274
abstract_inverted_index.includes	96, 163
abstract_inverted_index.inferior	123
abstract_inverted_index.invasive	103
abstract_inverted_index.mutation	229
abstract_inverted_index.patients	52, 261, 275
abstract_inverted_index.possible	216
abstract_inverted_index.revealed	131
abstract_inverted_index.systolic	149, 190
abstract_inverted_index.testing,	223
abstract_inverted_index.variants	31
abstract_inverted_index.Cisplatin	1
abstract_inverted_index.advocates	213
abstract_inverted_index.carcinoma	105
abstract_inverted_index.diagnosed	167
abstract_inverted_index.emergency	70
abstract_inverted_index.estimated	144
abstract_inverted_index.etiology,	218
abstract_inverted_index.exertion.	78
abstract_inverted_index.inversion	121
abstract_inverted_index.outcomes.	288
abstract_inverted_index.performed	221
abstract_inverted_index.receiving	262
abstract_inverted_index.secondary	282
abstract_inverted_index.shortness	73
abstract_inverted_index.ventricle	135
abstract_inverted_index.N-terminal	83
abstract_inverted_index.Truncating	30
abstract_inverted_index.associated	286
abstract_inverted_index.considered	243
abstract_inverted_index.describing	22
abstract_inverted_index.developing	280
abstract_inverted_index.evaluation	258
abstract_inverted_index.frequently	49
abstract_inverted_index.functional	158
abstract_inverted_index.importance	254
abstract_inverted_index.myocardial	24
abstract_inverted_index.pathogenic	228
abstract_inverted_index.prevention	246
abstract_inverted_index.prohormone	84
abstract_inverted_index.remission.	112
abstract_inverted_index.subsequent	111
abstract_inverted_index.unicameral	239
abstract_inverted_index.ventricle,	154
abstract_inverted_index.(NT-proBNP)	89
abstract_inverted_index.54-year-old	63
abstract_inverted_index.cardiotoxic	201, 263
abstract_inverted_index.dysfunction	25, 150, 191
abstract_inverted_index.hypokinesia	139
abstract_inverted_index.illustrates	252
abstract_inverted_index.implantable	240
abstract_inverted_index.natriuretic	87
abstract_inverted_index.Furthermore,	188
abstract_inverted_index.chemotherapy	101, 284
abstract_inverted_index.corroborated	207
abstract_inverted_index.vasculotoxic	14
abstract_inverted_index.Additionally,	237
abstract_inverted_index.Biologically,	79
abstract_inverted_index.chemotherapy.	29, 205, 264
abstract_inverted_index.transthoracic	128
abstract_inverted_index.(Arg21639Ter).	236
abstract_inverted_index.cardiomyopathy	40, 169
abstract_inverted_index.identification	266
abstract_inverted_index.platinum-based	4, 204
abstract_inverted_index.regurgitation.	159
abstract_inverted_index.(c.64915C>T,	234
abstract_inverted_index.cardiomyopathy.	56
abstract_inverted_index.cisplatin-based	28, 100
abstract_inverted_index.therapy-induced	55
abstract_inverted_index.cardiomyopathies	281
abstract_inverted_index.chemotherapeutic	5
abstract_inverted_index.echocardiography	129
abstract_inverted_index.electrocardiography	114
abstract_inverted_index.cardioverter-defibrillator	241
cited_by_percentile_year
countries_distinct_count	1
institutions_distinct_count	3
citation_normalized_percentile