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Cardiac rhabdomyoma with tuberous sclerosis: a case report.

Sefa Kelekçi, H Fehmi Yazicioglu, Bülent Yılmaz, Mehmet Aygün, Rukiye Eker Ömeroğlu

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Abstract

BACKGROUND: Rhabdomyomas are the most common benign cardiac neoplasms occurring in the fetus and neonate, with most of them identified within the first year of life. Cardiac rhabdomyomas are frequently associated with tuberous sclerorosis. CASE: A 25-year-old, pregnant woman with no remarkable personal or family history was referred to us for a suspected fetal cardiac anomaly. Ultrasonographic examination of the fetus revealed multiple solid masses consistent with rhabdomyoma in the ventricular septum and ventricular wall. No other anomalies could be detected. Postnatal echocardiography confirmed the presence of cardiac rhabdomyoma, and periventricular subependymal multiple hamartomas were diagnosed by postnatal magnetic resonance imaging. CONCLUSION: When fetal cardiac rhabdomyoma is diagnosed, careful evaluation of other fetal structures, including brain and renal parenchyma, should be performed to search for signs of tuberous sclerosis.

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BACKGROUND: Rhabdomyomas are the most common benign cardiac neoplasms occurring in the fetus and neonate, with most of them identified within the first year of life. Cardiac rhabdomyomas are frequently associated with tuberous sclerorosis. CASE: A 25-year-old, pregnant woman with no remarkable personal or family history was referred to us for a suspected fetal cardiac anomaly. Ultrasonographic examination of the fetus revealed multiple solid masses consistent with rhabdomyoma in the ventricular septum and ventricular wall. No other anomalies could be detected. Postnatal echocardiography confirmed the presence of cardiac rhabdomyoma, and periventricular subependymal multiple hamartomas were diagnosed by postnatal magnetic resonance imaging. CONCLUSION: When fetal cardiac rhabdomyoma is diagnosed, careful evaluation of other fetal structures, including brain and renal parenchyma, should be performed to search for signs of tuberous sclerosis.

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Available abstract

BACKGROUND: Rhabdomyomas are the most common benign cardiac neoplasms occurring in the fetus and neonate, with most of them identified within the first year of life. Cardiac rhabdomyomas are frequently associated with tuberous sclerorosis. CASE: A 25-year-old, pregnant woman with no remarkable personal or family history was referred to us for a suspected fetal cardiac anomaly. Ultrasonographic examination of the fetus revealed multiple solid masses consistent with rhabdomyoma in the ventricular septum and ventricular wall. No other anomalies could be detected. Postnatal echocardiography confirmed the presence of cardiac rhabdomyoma, and periventricular subependymal multiple hamartomas were diagnosed by postnatal magnetic resonance imaging. CONCLUSION: When fetal cardiac rhabdomyoma is diagnosed, careful evaluation of other fetal structures, including brain and renal parenchyma, should be performed to search for signs of tuberous sclerosis.

Key concepts: Tuberous sclerosis, Rhabdomyoma, Medicine, Fetus, Subependymal zone, Pathology, Pregnancy, Radiology

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