Case of Epirubicin-Induced Cardiomyopathy in Familial Cardiomyopathy

Shipman, Kate E.; Arnold, I R

doi:10.1200/jco.2011.34.8052

Cited by 13 publications

(8 citation statements)

References 12 publications

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“…Wasielewski et al 7 sequenced 48 cardiomyopathy-associated genes in 21 patients with CCMP and identified pathogenic mutations in MYH7 in 2 patients. An MYH7 mutation was also found in a patient described by Shipman et al 12 In conclusion, this case series supports the hypothesis that a genetic predisposition for DCM increases susceptibility for CCMP. Because TTNtv are the most common cause of familial and sporadic DCM, further research is needed to establish their prevalence in patients with CCMP.…”

Section: Discussionsupporting

confidence: 89%

Truncating Titin ( TTN) Variants in Chemotherapy-Induced Cardiomyopathy

Linschoten

Teske

Baas

et al. 2017

Journal of Cardiac Failure

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Chemotherapy-induced cardiomyopathy (CCMP) is a complication of chemotherapy treatment occurring in 9% of patients treated with the use of anthracyclines. Currently, risk stratification is based on clinical risk factors that do not adequately account for variable individual susceptibility. This suggests the presence of other determinants. In this case series, we describe 2 women with breast cancer who developed severe heart failure within months after chemotherapy. Genetic screening revealed truncating frameshift mutations in TTN, encoding the myofilament titin, in both women. To our knowledge, this is the 1st report of an association between truncating TTN variants and CCMP. Because truncations in TTN are the most common cause of familial and sporadic dilated cardiomyopathy, further research is needed to establish their prevalence in patients presenting with CCMP.

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Section: Discussionsupporting

confidence: 89%

Truncating Titin ( TTN) Variants in Chemotherapy-Induced Cardiomyopathy

Linschoten

Teske

Baas

et al. 2017

Journal of Cardiac Failure

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“…In the literature, we found two other reports of patients with AACM with a positive family history of cardiomyopathy. 21 22 Interestingly, one of these families also carried a MYH7 mutation ( MYH7 c.4276G>A, p.Glu1426Lys). Hence, thus far, MYH7 mutations have been described in three of eight patients with AACM.…”

Section: Discussionmentioning

confidence: 99%

Potential genetic predisposition for anthracycline-associated cardiomyopathy in families with dilated cardiomyopathy

et al. 2014

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ObjectiveAnthracyclines are successfully used in cancer treatment, but their use is limited by their cardiotoxic side effects. Several risk factors for anthracycline-associated cardiomyopathy (AACM) are known, yet the occurrence of AACM in the absence of these known risk factors suggests that other factors must play a role. The purpose of this study was to evaluate whether a genetic predisposition for dilated cardiomyopathy (DCM) could be a potential risk factor for AACM.MethodsA hospital-based registry of 162 DCM families and two hospital-based registries of patients with cancer treated with systemic cancer therapy (n>6000) were reviewed focusing on AACM. Selected patients with AACM/DCM families with possible AACM (n=21) were analysed for mutations in cardiomyopathy-associated genes and presymptomatic cardiological evaluation of first-degree relatives was performed.ResultsWe identified five DCM families with AACM and one patient with AACM with a family member with a possible early sign of mild DCM. Pathogenic MYH7 mutations were identified in two of these six families. The MYH7 c.1633G>A (p.Asp545Asn) and c.2863G>A (p.Asp955Asn) mutations (one double mutant allele) were identified in a DCM family with AACM. The MYH7 c.4125T>A (p.Tyr1375X) mutation was identified in one patient with AACM.ConclusionsThis study further extends the hypothesis that a genetic predisposition to DCM could be a potential risk factor for AACM.

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“…Elucidating whether an underlying genetic condition is present in the evaluation of CCM can be challenging. There is little information on the systematic evaluation of patients with CCM in which genetic or familial study have been performed [ 27 , 86 , 87 , 88 , 89 ]. Despite genetic testing beingconsidered as a routine diagnostic and prognostic exam in oncologic patients, genetic testing of CMY associated genes (germinal cells) is not included in the panels.…”

Section: Impact Of Chemotherapy On Development Of Systolic Impairmmentioning

confidence: 99%

“…Additionally, rare variants in genes related to familial CMY have been identified in sporadic individuals and a small case series of patients with CCM [ 27 , 86 , 87 , 88 , 89 ]. The current evidence is based on clinical cases like a woman with epirubicin-induced CMY who was found to be the carrier of the mutation in a sarcomeric gene (MYH7) often associated with HCM or DCM phenotypes [ 87 ]. MYH7 variants were also identified by other authors in patients developing severe CCM [ 86 , 89 ].…”

Section: Impact Of Chemotherapy On Development Of Systolic Impairmmentioning

confidence: 99%

Genetic Factors Involved in Cardiomyopathies and in Cancer

Sabater-Molina

Navarro-Peñalver

Muñoz‐Esparza

et al. 2020

JCM

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Cancer therapy-induced cardiomyopathy (CCM) manifests as left ventricular (LV) dysfunction and heart failure (HF). It is associated withparticular pharmacological agents and it is typically dose dependent, but significant individual variability has been observed. History of prior cardiac disease, abuse of toxics, cardiac overload conditions, age, and genetic predisposing factors modulate the degree of the cardiac reserve and the response to the injury. Genetic/familial cardiomyopathies (CMY) are increasingly recognized in general populations with an estimated prevalence of 1:250. Association between cardiac and oncologic diseases regarding genetics involves not only the toxicity process, but pathogenicity. Genetic variants in germinal cells that cause CMY (LMNA, RAS/MAPK) can increase susceptibility for certain types of cancer. The study of mutations found in cancer cells (somatic) has revealed the implication of genes commonly associated with the development of CMY. In particular, desmosomal mutations have been related to increased undifferentiation and invasiveness of cancer. In this article, the authors review the knowledge on the relevance of environmental and genetic background in CCM and give insights into the shared genetic role in the pathogenicity of the cancer process and development of CMY.

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Case of Epirubicin-Induced Cardiomyopathy in Familial Cardiomyopathy

Cited by 13 publications

References 12 publications

Truncating Titin ( TTN) Variants in Chemotherapy-Induced Cardiomyopathy

Truncating Titin ( TTN) Variants in Chemotherapy-Induced Cardiomyopathy

Potential genetic predisposition for anthracycline-associated cardiomyopathy in families with dilated cardiomyopathy

Genetic Factors Involved in Cardiomyopathies and in Cancer

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