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Cardiac rhabdomyomas associated with tuberous sclerosis complex in children

From presentation to outcome

Kardiale Rhabdomyome in Verbindung mit tuberöser Sklerose bei Kindern

Von der Erstvorstellung bis zum Behandlungsergebnis

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Abstract

Purpose

The aim of this study was to evaluate the clinical and imaging features of patients with cardiac rhabdomyomas associated with tuberous sclerosis complex.

Patients and methods

The clinical and imaging characteristics of seven patients with cardiac rhabdomyomas associated with tuberous sclerosis complex between June 2008 and January 2013 were reviewed. The data collected included patient characteristics associated with tuberous sclerosis complex, clinical presentation at diagnosis of cardiac rhabdomyoma, and findings from electrocardiography, echocardiography, magnetic resonance imaging (MRI), and the follow-up period.

Results

The age of the patients with tuberous sclerosis complex at diagnosis ranged from 3 months to 5 years with a mean age of 6 months. All patients underwent echocardiography, electrocardiography, and brain MRI and three patients also underwent cardiac MRI. Clinical presentation was epilepsy in all cases, multiple hypomelanotic macules in two patients, cardiac murmur in one patient, arrhythmia in three cases, and dyspnea in one case. Of the patients, six had multiple tumors and a total of 27 tumors were identified by echocardiography in seven patients, including eight in the left ventricle, 18 in the right ventricle, and one in the left atrium. Brain MRI revealed cortical tubers, subcortical tubers, and subependymal nodules in all cases but no subependymal giant cell astrocytoma. The median follow-up period was 2 years (range, 3 months to 4 years). One patient underwent surgical resection of the cardiac tumor because of severe obstruction of the left atrium and hemodynamic compromise. Spontaneous regression occurred in two cases during the follow-up period.

Conclusion

Cardiac rhabdomyomas are strongly associated with tuberous sclerosis complex and these patients exhibit a variety of clinical presentations. Sometimes these tumors can cause death and some patients may need immediate intervention in the early postnatal period or at a later point in life.

Zusammenfassung

Ziel

Ziel der Studie war es, die klinischen und bildgebenden Kennzeichen von Patienten mit kardialen Rhabdomyomen in Verbindung mit tuberöser Sklerose zu untersuchen.

Material und Methoden

Zwischen Juni 2008 und Januar 2013 wurden die klinischen und bildgebenden Merkmale von 7 Patienten mit kardialen Rhabdomyomen in Verbindung mit tuberöser Sklerose untersucht. Zu den erhobenen Daten gehörten Patientenmerkmale, die mit tuberöser Sklerose einhergingen, klinischer Befund bei Diagnosestellung des kardialen Rhabdomyoms, EKG-, Echokardiographie- und Magnetresonanztomographie(MRT)-Befunde sowie Nachsorgezeitraum.

Ergebnisse

Zum Zeitpunkt der Diagnosestellung reichte das Alter der Patienten mit tuberöser Sklerose von 3 Monaten bis 5 Jahren, bei einem Durchschnittsalter von 6 Monaten. Bei sämtlichen Patienten wurde eine Echokardiographie, ein EKG sowie eine Hirn-MRT durchgeführt und bei 3 Patienten auch eine Herz-MRT. In allen Fällen bestand eine Epilepsie als klinisches Zeichen und bei 2 Patienten auch multiple hypomelanotische Flecken, in einem Fall ein Herzgeräusch, in 3 Fällen eine Arrhythmie und in einem Fall eine Dyspnoe. Multiple Tumoren lagen bei 6 Patienten vor, und insgesamt wurden echokardiographisch 27 Tumoren bei 7 Patienten festgestellt, davon 8 im linken Ventrikel, 18 im rechten Ventrikel und einer im linken Vorhof. Die Hirn-MRT ergab Tubera der Hirnrinde, subkortikale Tubera und subependymale Knötchen in allen Fällen, jedoch kein subependymales Riesenzellastrozytom. Die durchschnittliche Nachsorgephase betrug 2 Jahre (Spannbreite von 3 Monaten bis 4 Jahren). Bei einem Patienten erfolgte die chirurgische Resektion des Herztumors wegen schwerer Obstruktion des linken Vorhofs und Beeinträchtigung der hämodynamischen Situation. In 2 Fällen trat während der Nachsorgephase eine Spontanregression ein.

Schlussfolgerung

Kardiale Rhabdomyome sind stark mit tuberöser Sklerose assoziiert, dabei weisen solche Patienten ein Spektrum klinischer Symptome auf. Manchmal können diese Tumoren tödlich sein und bei einigen Patienten ein unmittelbares Eingreifen in der frühen Postnatalperiode oder zu einem späteren Zeitpunkt notwendig machen.

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Acknowledgments

This study was supported by funding of Shanghai Science and Technology Committee (No. 12ZR1403400). We appreciate the assistance of Drs. Jing Zhang and Xiaojing Ma, Department of Echocardiography, Children’s Hospital, Fudan University, China.

Compliance with ethical guidelines

Conflict of interest. Q. Shen, J, Shen, Z. Qiao, Q. Yao, G. Huang, and X. Hu state that there are no conflicts of interest. Consent was obtained from all patients identifiable from images or other information within the manuscript. In the case of underage patients, consent was obtained from a parent or legal guardian.

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Authors and Affiliations

  1. Radiology Department, Children’s Hospital of Fudan University, 399 Wanyuan Road, 201102, Minhang District, Shanghai, People’s Republic of China

    Q. Shen, J. Shen, Z. Qiao, Q. Yao & X. Hu MD, PhD

  2. Heart Centre, Children’s Hospital of Fudan University, Shanghai, People’s Republic of China

    G. Huang

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  1. Q. Shen
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  2. J. Shen
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  3. Z. Qiao
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  4. Q. Yao
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  5. G. Huang
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  6. X. Hu MD, PhD
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Corresponding author

Correspondence to X. Hu MD, PhD.

Additional information

Quanli Shen and Jin Shen contributed equally to this paper and study.

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Shen, Q., Shen, J., Qiao, Z. et al. Cardiac rhabdomyomas associated with tuberous sclerosis complex in children. Herz 40, 675–678 (2015). https://doi.org/10.1007/s00059-014-4078-1

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  • DOI: https://doi.org/10.1007/s00059-014-4078-1

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