Successful treatment of arrhythmia-induced cardiomyopathy in an infant with tuberous sclerosis complex

Noriko Motoki,Kenichi Koike,Satoshi Matsuzaki,Tetsuhiro Fukuyama,Yohei Akazawa,Yuji Inaba,Takafumi Nishimura

doi:10.1186/s12887-016-0557-2

Noriko Motoki, Kenichi Koike + Show 5 more

Open Access

https://doi.org/10.1186/s12887-016-0557-2

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Journal: BMC Pediatrics	Publication Date: Jan 25, 2016
Citations: 20	License type: cc-by

Affiliation: Shinshu University

Abstract

BackgroundTuberous sclerosis complex (TSC) is an autosomal-dominant tumor suppressor gene syndrome that is characterized by the development of distinctive benign tumors and malformations in multiple organ systems (N Eng J Med 355:1345-1356, 2006). Cardiac rhabdomyomas are intracavitary or intramural tumors observed in 50–70 % of infants with TSC but only cause serious clinical problems in a very small fraction of these patients (N Eng J Med 355:1345-1356, 2006; Pediatrics 118:1146-1151, 2006; Eur J Pediatr 153:155-7, 1994); most individuals have no clinical symptoms and their tumors spontaneously regress. However, despite being clinically silent, these lesions can provoke arrhythmias and heart failure (Pediatrics 118:1146-1151, 2006; Eur J Pediatr 153:155-7, 1994).Case presentationWe here report the clinical findings of an infant suffering from TSC complicated with dilated cardiomyopathy (DCM) after the regression of cardiac rhabdomyomas. Although his tumors improved spontaneously, tachycardia and irregular heart rate due to frequent premature ventricular and supraventricular contractions persisted from the newborn period and were refractory to several medications. His cardiomyopathy was suspected to have been induced by the tachycardia or arrhythmia. We found carvedilol therapy to be safe and highly effective in treating the cardiomyopathy. To our knowledge, this is the first case report of TSC with DCM after regression of cardiac tumors and its successful treatment.ConclusionThe patient’s clinical course suggests that careful life-long disease management is important, even in TSC patients without apparent symptoms.

Highlights

Tuberous sclerosis complex (TSC) is an autosomal dominant tumor suppressor gene syndrome that is characterized by the development of benign tumors and malformations in multiple organ systems [1]
We here report the clinical findings of an infant boy suffering from TSC complicated with dilated cardiomyopathy (DCM)
Atrial ectopic tachycardia is the most common arrhythmia in pediatric arrhythmia-induced cardiomyopathy (AIC), for which beta-blockers are frequently used as the first-line therapy [7]

Summary

Background

Tuberous sclerosis complex (TSC) is an autosomal dominant tumor suppressor gene syndrome that is characterized by the development of benign tumors and malformations in multiple organ systems [1]. Cardiac rhabdomyomas are observed in approximately 50–70 % of infants with TSC, most patients exhibit no clinical symptoms and their tumors spontaneously regress [1,2,3]. Case presentation The male patient was born spontaneously at term after an uneventful pregnancy despite the detection of cardiac tumors at 36 weeks by fetal echocardiography. After birth, he was diagnosed as having TSC based on the diagnostic criteria of white leaf-shaped hypomelanotic macules, a subependymal nodule, and a retinal hamartoma [4].

Discussion

Conclusion