Left ventricular outflow obstruction in rhabdomyoma of infancy: meta-analysis of the literature

Verhaaren, Henri; Vanakker, Olivier; Wolf, Daniël De; Suys, Bert; François, Katrien; Matthys, Dirk

doi:10.1067/s0022-3476(03)00250-6

Cited by 54 publications

(52 citation statements)

References 49 publications

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“…2 The natural history of these lesions in early life has been well defined, with an initial increase in tumor size followed by a progressive decrease in tumor size over time. 3 Occasionally patients present in the neonatal period with severe inflow or left or right ventricular outflow tract obstruction. 4 Such patients occasionally need surgical resection of their tumor to alleviate hemodynamically significant critical outflow tract obstruction.…”

mentioning

confidence: 99%

Rapid Regression of Left Ventricular Outflow Tract Rhabdomyoma After Sirolimus Therapy

Breathnach¹,

Pears²,

Franklin³

et al. 2014

Pediatrics

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The neonatal presentation of cardiac rhabdomyomas varies in severity from severe outflow tract obstruction to minimal cardiac dysfunction. The natural history for these lesions is spontaneous regression in the majority of cases. We describe a newborn boy with severe left ventricular outflow tract obstruction secondary to a large rhabdomyoma. The tumor infiltrated the paraaortic area and extended around the origin of the right coronary artery, making surgical resection challenging. Oral sirolimus therapy resulted in a rapid regression of the tumor and alleviation of outflow tract obstruction within 1 month of treatment. This is the first report of sirolimus therapy in alleviating critical left ventricular outflow tract obstruction in this condition.

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mentioning

confidence: 99%

Rapid Regression of Left Ventricular Outflow Tract Rhabdomyoma After Sirolimus Therapy

Breathnach¹,

Pears²,

Franklin³

et al. 2014

Pediatrics

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“…Cardiac follow-up of survivors showed total or partial regression of CR in the majority of cases (4 of the 5 surviving neonates), confirming that regression, probably based on apoptosis, is possible during the first 2 years of life, even in the TS-associated clinical forms [9] .…”

Section: Discussionmentioning

confidence: 68%

“…It was reported that inflow or outflow obstructions represent the most common cause of death in utero and during the first days of life, while arrhythmias is the second most frequent cause [9] . In our study, no death occurred in utero; the 2 newborns that died soon after birth showed obstructive CRs responsible for cardiac failure (case No.…”

Section: Discussionmentioning

confidence: 99%

Neonatal Emergencies Associated with Cardiac Rhabdomyomas: An 8-Year Experience

Rosa¹,

Carolis

Pardeo³

et al. 2010

Fetal Diagn Ther

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During the foetal-neonatal period, rhabdomyomas represent the majority of cardiac tumours and are closely associated with tuberous sclerosis. Cardiac rhabdomyomas may be completely asymptomatic and are incidentally discovered during an echocardiogram, or may cause cardiac dysfunctions requiring medical and/or surgical intervention. During foetal life and the early neonatal period, life-threatening conditions, mostly due to arrhythmias, cardiac failure or obstruction, do occur on rare occasions. We reviewed the medical records of all cases of cardiac rhabdomyomas diagnosed prenatally or postnatally over an 8-year period. The present study reviews 7 cases of life-threatening conditions. Arrhythmic episodes were described in 5 patients, and blood flow obstruction was reported in 2 cases. Antiarrhythmic agents successfully controlled the clinical and electrophysiological conditions. Obstructive conditions were associated with poor outcomes. In conclusion, when prenatal diagnosis of rhabdomyoma is made, appropriate planning at delivery for the management of potential haemodynamic complications may prevent adverse neonatal outcomes. The clinical outcome is more influenced by obstructive rather than by dysrhythmic complications. Appropriate antiarrhythmic treatment is of primary importance. In all cases discovered through prenatal and/or neonatal life-threatening conditions, an accurate follow-up should always be performed to anticipate the development of tuberous sclerosis.

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“…8,9 ). In contrast, the occurrence of single intracardiac rhabdomyoma is not overrepresented in persons with TSC compared to non TSC patients 2 and single giant progressing rhabdomyoma is very rare in persons with TSC. Schlaegel et al 10 described a case similar to our family -a foetus showing a large mediastinal tumour with pleural effusion and mediastinal shift at 27 weeks of gravidity and negative TSC focused family history.…”

Section: Discussionmentioning

confidence: 70%

“…In contrast, single rhabdomyoma is not typical of TSC and giant mediastinal / cardiac tumour is a very rare finding in TSC (ref. 2,3 ). Here we report on a family without history of TSC with a huge mediastinal tumour in one foetus, multiple cardiac rhabdomyomas of foetus in the next gravidity and a novel TSC2 variant found in 3 members of the family.…”

Section: Introductionmentioning

confidence: 99%

Single giant mediastinal rhabdomyoma as a sole manifestation of TSC in foetus

Godava¹,

Filipová²,

Dubrava³

et al. 2017

BIOMED PAP

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Background. Presence of multiple cardiac rhabdomyomas is one of the major features of Tuberous sclerosis (TSC), but isolated progressing single giant rhabdomyoma is very rare and not typical of TSC. Case report. This report presents family without obvious history of TSC with occurrence of giant mediastinal rhabdomyoma affecting the haemodynamics in male foetus, without other TSC symptoms. Girl from the next gravidity had prenatally detected multiple rhabdomyomas and small subcortical tuber of brain detected after birth. DNA analysis found novel c.4861A>T TSC2 variant and large deletion in TSC2 in tumour tissue from male foetus. The novel TSC2 variant was also present in the girl and her healthy father, in silico analysis suggested its functional effect on TSC2. Brain MRI of the father detected mild TSC specific abnormality. Conclusion. We suggest the novel TSC2 mutation is a cause of mild TSC in this family and has reduced expression. The clinical and molecular findings in this family also emphasize that TSC diagnosis should be also evaluated in case of single giant foetal cardiac rhabdomyoma.

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Left ventricular outflow obstruction in rhabdomyoma of infancy: meta-analysis of the literature

Cited by 54 publications

References 49 publications

Rapid Regression of Left Ventricular Outflow Tract Rhabdomyoma After Sirolimus Therapy

Rapid Regression of Left Ventricular Outflow Tract Rhabdomyoma After Sirolimus Therapy

Neonatal Emergencies Associated with Cardiac Rhabdomyomas: An 8-Year Experience

Single giant mediastinal rhabdomyoma as a sole manifestation of TSC in foetus

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