Evaluating the risk of tuberous sclerosis in cases with prenatal diagnosis of cardiac rhabdomyoma

Gamzu, Ronni; Achiron, R.; Hegesh, Julius; Weiner, Ehud; Tepper, R.; Nir, Amiram; Rabinowitz, Ron; Auslander, Ron; Yagel, Simcha; Zalel, Yaron; Zimmer, Etan Z.

doi:10.1002/pd.464

Cited by 62 publications

(29 citation statements)

References 17 publications

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“…In symptomatic patients, surgery is sometimes attempted in order to debulk the tumor and is associated with high morbidity and mortality . Medical treatment was limited to supportive therapy until recent case reports described optimal outcomes in children with cardiac rhabdomyomas treated with mTOR inhibitors …”

Section: Discussionmentioning

confidence: 99%

Regression of massive cardiac rhabdomyoma on everolimus therapy

Hoshal

Samuel

Schneider

et al. 2015

Pediatrics International

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Cardiac rhabdomyoma is the primary feature of the genetic disease, tuberous sclerosis complex, the most common cardiac tumor diagnosed in neonates and infants. Spontaneous regression is observed in most cases, but these tumors may cause hemodynamic instability, arrhythmias or other complications. We describe the case of a critically ill neonate, resuscitated after cardiac arrest secondary to massive locally invasive cardiac rhabdomyoma, who was successfully treated with everolimus (mammalian target of rapamycin [mTOR] inhibitor). Rapid tumor regression was observed on echocardiography, but it was unlikely that it was confounded by the natural disease course of regression. The presented case suggests that mTOR inhibitors may play a significant role in the treatment of large cardiac rhabdomyomas in critically ill neonates.

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Section: Discussionmentioning

confidence: 99%

Regression of massive cardiac rhabdomyoma on everolimus therapy

Hoshal

Samuel

Schneider

et al. 2015

Pediatrics International

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“…Recently, Gamzu et al 19 reported their study evaluating the risk of tuberous sclerosis in cases with prenatal diagnosis of cardiac rhabdomyoma and found that 39% of cases with suspected cardiac rhabdomyomas in-utero would have tuberous sclerosis. Family history and multifocality remain the strongest predictors of tuberous sclerosis, and the cardiac tumor cannot be used reliably to predict tuberous sclerosis in prenatal counseling.…”

Section: Discussionmentioning

confidence: 99%

Prenatal echocardiographic differential diagnosis of fetal cardiac tumors

Zhou

Fan

Peng

et al. 2004

Ultrasound in Obstet & Gyne

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“…Furthermore, Gamzu et al . reported that multifocality of the tumor diagnosed in utero was the strongest evidence of tuberous sclerosis, 18 but the tumor in this case is solitary.…”

Section: Discussionmentioning

confidence: 51%

Prenatal diagnosis and management for a large fetal cardiac tumor complicated with hydrops fetalis

Nakata

Fujiwara

Ishikawa

et al. 2005

J of Obstet and Gynaecol

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Fetal cardiac tumor is a rare disease, and its prognosis varies in relation to the complications such as arrhythmia and out-flow obstruction. Hydrops fetalis is one of severe complications that result in an unfavorable outcome. A case is presented herein of a large fetal cardiac tumor diagnosed at 28 weeks gestation. At 30 weeks gestation, the fetus complicated with hydrops fetalis because of impaired cardiac function. Increased peak systolic velocity in the ascending aorta and marked reversed flow in the ductus venosus were observed. Oral digoxin therapy was administered to the mother as a cardiotonic agent and the hydropic condition was immediately diminished. After normal delivery, the cardiac tumor gradually decreased in size and the infant developed normally, but required an antiarrhythmic drug. The case indicates that the in utero digoxin therapy could be a choice for hydrops fetalis caused by cardiac tumor.

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Evaluating the risk of tuberous sclerosis in cases with prenatal diagnosis of cardiac rhabdomyoma

Cited by 62 publications

References 17 publications

Regression of massive cardiac rhabdomyoma on everolimus therapy

Regression of massive cardiac rhabdomyoma on everolimus therapy

Prenatal echocardiographic differential diagnosis of fetal cardiac tumors

Prenatal diagnosis and management for a large fetal cardiac tumor complicated with hydrops fetalis

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