Everolimus for severe arrhythmias in tuberous sclerosis complex related cardiac rhabdomyomas

Sánchez, María Paula Silva; Alvarado-Socarrás, Jorge L.; Castro, J.; Meneses, Keyla Milena; Santiago, Justo; Prada, Carlos E.

doi:10.1002/ajmg.a.62120

Cited by 7 publications

(4 citation statements)

References 26 publications

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“…Similar to previous reports, in our case mTOR inhibition resulted in a significant reduction of tumor size within few weeks and improved cardiac arrhythmia (Dahdah, 2017; Öztunç et al, 2015; Silva‐Sánchez et al, 2021). Importantly, multiple attempts of discontinuation of everolimus therapy correlated with a regrowth of rhabdomyomas, as previously noted in other TSC patients (Aw et al, 2017), but also recurrence of supraventricular tachycardia.…”

Section: Discussionsupporting

confidence: 91%

Long‐term use of everolimus for refractory arrhythmia in a child with tuberous sclerosis complex

Hofmann,

Syrbe,

Hebe

et al. 2023

American J of Med Genetics Pt A

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Tuberous sclerosis complex is associated with the occurrence of cardiac rhabdomyomas that may result in life‐threatening arrhythmia unresponsive to standard antiarrhythmic therapy. We report the case of an infant with multiple cardiac rhabdomyomas who developed severe refractory supraventricular tachycardia (SVT) that was successfully treated with everolimus. Pharmacological mTOR inhibition rapidly improved arrhythmia within few weeks after treatment initiation and correlated with a reduction in tumor size. Intermediate attempts to discontinue everolimus resulted in rhabdomyoma size rebound and recurrence of arrhythmic episodes, which resolved on resumption of therapy. While everolimus treatment led to successful control of arrhythmia in the first years of life, episodes of SVT reoccurred at the age of 6 years. Electrophysiologic testing confirmed an accessory pathway that was successfully ablated, resulting in freedom of arrhythmic events. In summary we present an in‐depth evaluation of the long‐term use of everolimus in a child with TSC‐associated SVT, including the correlation between drug use and arrhythmia outcome. This case report provides important information on the safety and efficacy of an mTOR inhibitor for the treatment of a potentially life‐threatening cardiac disease manifestation in TSC for which the optimal treatment strategy is still not well established.

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Section: Discussionsupporting

confidence: 91%

Long‐term use of everolimus for refractory arrhythmia in a child with tuberous sclerosis complex

Hofmann,

Syrbe,

Hebe

et al. 2023

American J of Med Genetics Pt A

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“…Jawad et al [25] premature atrial contractions Karatza et al [39] paroxysmal supraventricular tachycardia Castilla Cabanes et al [40], O'Callaghan et al [41] Wolff-Parkinson-White syndrome Silva-Sanchez et al [42] sinoatrial nodal re-entrant tachycardia Howell et al [43] atrial flutter Jawad et al [25] junctional rhythm Mettin et al [20], Motoki et al [44] premature ventricular contractions Hinton et al [45] ventricular tachycardia…”

Section: Supraventricular and Ventricular Arrhythmiasmentioning

confidence: 99%

“…Additionally, children with intractable arrhythmias might benefit from catheter or surgical ablation, defibrillators or pacemakers [45,89]. The increasing understanding of the mTOR pathway activation in the pathophysiology of TS resulted in an increased use of mTOR inhibitors for the management of the patients with TS, rhabdomyomas and refractory arrhythmias [42,86,90,91].…”

Section: Treatment According To the Evolution Of Cardiovascular Manif...mentioning

confidence: 99%

Exploring Cardiovascular Involvement in Tuberous Sclerosis: Insights for Pediatric Clinicians

Lazea,

Țaranu,

Bolboacă

2024

Children

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Tuberous sclerosis is a rare genetic disorder involving mainly the nervous and cardiovascular systems. The early recognition of the cardiovascular manifestations by the pediatrician allows an appropriate management and therefore enhances the quality of life of the affected children. Cardiac rhabdomyomas and the associated arrhythmias are the first cardiac features and they might represent a diagnosis challenge given their wide spectrum of clinical manifestations. We aimed to provide the paediatric practitioners with current knowledge regarding the cardiovascular complications in children with tuberous sclerosis. We overviewed the antenatal and postnatal evolution of cardiovascular manifestations, the systematic screening and long-term follow-up strategy of cardiac rhabdomyomas and arrhythmias in children with tuberous sclerosis.

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“…Therefore, conservative treatment can be carried out by serial echocardiography and ECG follow-up monitoring. Some reports have demonstrated that everolimus is a potential new therapeutic option for treating rhabdomyomas with significant clinical presentations [ 119 ]. Surgical intervention is usually reserved for patients with severe obstruction and intractable arrhythmias symptoms that are unresponsive to corresponding drugs [ 8 ].…”

Section: Benign Cardiac Primary Cardiac Tumor ( Table 1 ...mentioning

confidence: 99%

Multimodality Imaging of Benign Primary Cardiac Tumor

Gao

et al. 2022

Diagnostics

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Primary cardiac tumors (PCTs) are rare, with benign PCTs being relatively common in approximately 75% of all PCTs. Benign PCTs are usually asymptomatic, and they are found incidentally by imaging. Even if patients present with symptoms, they are usually nonspecific. Before the application of imaging modalities to the heart, our understanding of these tumors is limited to case reports and autopsy studies. The advent and improvement of various imaging technologies have enabled the non-invasive evaluation of benign PCTs. Although echocardiography is the most commonly used imaging examination, it is not the best method to describe the histological characteristics of tumors. At present, cardiac magnetic resonance (CMR) and cardiac computed tomography (CCT) are often used to assess benign PCTs providing detailed information on anatomical and tissue features. In fact, each imaging modality has its own advantages and disadvantages, multimodality imaging uses two or more imaging types to provide valuable complementary information. With the widespread use of multimodality imaging, these techniques play an indispensable role in the management of patients with benign PCTs by providing useful diagnostic and prognostic information to guide treatment. This article reviews the multimodality imaging characterizations of common benign PCTs.

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Everolimus for severe arrhythmias in tuberous sclerosis complex related cardiac rhabdomyomas

Cited by 7 publications

References 26 publications

Long‐term use of everolimus for refractory arrhythmia in a child with tuberous sclerosis complex

Long‐term use of everolimus for refractory arrhythmia in a child with tuberous sclerosis complex

Exploring Cardiovascular Involvement in Tuberous Sclerosis: Insights for Pediatric Clinicians

Multimodality Imaging of Benign Primary Cardiac Tumor

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