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Prenatal Kardiyak Rabdomyom Saptanan Bir Tüberoskleroz Olgusu

Year 2013, Volume: 7 Issue: 1,EK, 16 - 19, 01.06.2013

Abstract

Tüberoskleroz birçok organda hamartomlara neden olan otozomal dominant kalıtılan bir hastalıktır. Çocuklarda kalbin en sık görülen tümörleri rabdomyomlardır. Antenatal ve postnatal ekokardiyografi ile tanınabilen rabdomyomlar sıklıkla tüberosklerozla ilişkilidir. Burada tüberoskleroz aile öyküsü varlığında fetal ekokardiyografi ile kardiyak rabdomyom saptanarak antenatal tüberoskleroz tanısı düşünülen bir yenidoğan olgusu sunulmaktadır.

References

  • Harding CO, Pagon RA. Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma. Am J Med Genet 1990; 37: 443-6.
  • De Vore GR, Hakim S, Kleinman CS, Hobbins JC. The in utero diagnosis of an interventricular septal cardiac rhabdomyoma by means of real-time-directed, M-mode echocardiography. Am J Obstet Gynecol 1982; 143: 867-969.
  • Bader RS, Chitayat D, Kelly E, Ryan G, Smallhorn JF, Toi A, et al. Fetal rhabdomyoma: Prenatal diagnosis, clinical outcome, and incidence of associated tuberoussclerosis complex. J Pediatr 2003; 143: 620-24.
  • Wortmann SB, Reimer A, Creemers JW, Mullaart RA. Prenatal diagnosis of cerebral lesions in Tuberous sclerosis complex(TSC). Case report and review of the literatüre. Eur J Paediatr Neurol 2008; 12: 123-26.
  • Dass BB, Scharma J. Cardiac rhabdomyoma and tuberousscle- rosis: Prenatal diagnosis and follow-up. Indian J Pediatr 2003; 70: 87-9.
  • Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria. J Child Neurol 1998; 13: 624-28.
  • Lima-Rogel V, Torres-Montes A, Hernandez-Sierra F, de los Santos- Lopez F, Falcon-Escobedo R. Neonatal cardiac rhabdomyoma: A case report and clinico-epidemiologic considerations. Arch Inst Cardiol Mex 1998; 68: 421-5.
  • Bader RS, Chitayat D, Kelly E, Ryan G, Smallhorn JF, Toi A, Hornberger LK. Fetal rhabdomyoma: Prenatal diagnosis, clinical outcome and incidence of associated tuberous sclerosis complex. J Pediatr 2003; 143: 620-4.
  • Mas C, Penny DJ, Menahem S. Pre excitation syndrome secondary to cardiac rhabdomyomas in tuberous sclerosis. J Paediatr Child Health 2000; 36: 84-6.
  • Jozwiak S, Kawalek W, Diuzewska J, Daszkowska J, Mirkiewicz- Malek W, Mizhalowicz R. Cardiac tumors in tuberous sclerosis: their incidence and course. Eur J Pediatr 1994; 153: 155-57.
  • Padalino MA, Basso C, Milanesi O, Vida VL, Moreolo GS, Thiene G, StellinG. Surgically treated primary cardiac tumors in early infancy and childhood. J Thoracic and Cardiovasc Surg 2005; 129: 1358-63.
  • Vinaitheerthan M, Wei J, Mizuguchi M, Greco A, Barness EG. Tuberous sclerosis: Immünohistochemistry expression of tuberin and hamartin in a 31-week gestational fetüs. Fetal Pediatr Pathol 2004; 23: 241-249.
  • Green A, Johnson P, Yates J. The tuberous sclerosis gene on chromosome 9q34 acts as a growth supressor. Hum Mol Genet 1994; 3: 1833-34.

A Case of Tuberous Sclerosis with Prenatally Diagnosed Cardiac Rhabdomyoma

Year 2013, Volume: 7 Issue: 1,EK, 16 - 19, 01.06.2013

Abstract

Tuberous sclerosis is an autosomal dominant disorder in which hamartomas occur in several organs. The most common heart tumor in children is rhabdomyoma. Rhabdomyoma is often associated with tuberous sclerosis and can be diagnosed by echocardiography during the antenatal or postnatal period. Herein, we suggest that fetal echocardiography should be performed in cases with a positive family history of tuberous sclerosis. Additionally, tuberous sclerosis should be kept in mind in a case with fetal rhabdomyoma

References

  • Harding CO, Pagon RA. Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma. Am J Med Genet 1990; 37: 443-6.
  • De Vore GR, Hakim S, Kleinman CS, Hobbins JC. The in utero diagnosis of an interventricular septal cardiac rhabdomyoma by means of real-time-directed, M-mode echocardiography. Am J Obstet Gynecol 1982; 143: 867-969.
  • Bader RS, Chitayat D, Kelly E, Ryan G, Smallhorn JF, Toi A, et al. Fetal rhabdomyoma: Prenatal diagnosis, clinical outcome, and incidence of associated tuberoussclerosis complex. J Pediatr 2003; 143: 620-24.
  • Wortmann SB, Reimer A, Creemers JW, Mullaart RA. Prenatal diagnosis of cerebral lesions in Tuberous sclerosis complex(TSC). Case report and review of the literatüre. Eur J Paediatr Neurol 2008; 12: 123-26.
  • Dass BB, Scharma J. Cardiac rhabdomyoma and tuberousscle- rosis: Prenatal diagnosis and follow-up. Indian J Pediatr 2003; 70: 87-9.
  • Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria. J Child Neurol 1998; 13: 624-28.
  • Lima-Rogel V, Torres-Montes A, Hernandez-Sierra F, de los Santos- Lopez F, Falcon-Escobedo R. Neonatal cardiac rhabdomyoma: A case report and clinico-epidemiologic considerations. Arch Inst Cardiol Mex 1998; 68: 421-5.
  • Bader RS, Chitayat D, Kelly E, Ryan G, Smallhorn JF, Toi A, Hornberger LK. Fetal rhabdomyoma: Prenatal diagnosis, clinical outcome and incidence of associated tuberous sclerosis complex. J Pediatr 2003; 143: 620-4.
  • Mas C, Penny DJ, Menahem S. Pre excitation syndrome secondary to cardiac rhabdomyomas in tuberous sclerosis. J Paediatr Child Health 2000; 36: 84-6.
  • Jozwiak S, Kawalek W, Diuzewska J, Daszkowska J, Mirkiewicz- Malek W, Mizhalowicz R. Cardiac tumors in tuberous sclerosis: their incidence and course. Eur J Pediatr 1994; 153: 155-57.
  • Padalino MA, Basso C, Milanesi O, Vida VL, Moreolo GS, Thiene G, StellinG. Surgically treated primary cardiac tumors in early infancy and childhood. J Thoracic and Cardiovasc Surg 2005; 129: 1358-63.
  • Vinaitheerthan M, Wei J, Mizuguchi M, Greco A, Barness EG. Tuberous sclerosis: Immünohistochemistry expression of tuberin and hamartin in a 31-week gestational fetüs. Fetal Pediatr Pathol 2004; 23: 241-249.
  • Green A, Johnson P, Yates J. The tuberous sclerosis gene on chromosome 9q34 acts as a growth supressor. Hum Mol Genet 1994; 3: 1833-34.
There are 13 citations in total.

Details

Other ID JA42ZN82NN
Journal Section Case Report
Authors

Atila Kılıç This is me

Serdar Alan This is me

Cem Karadeniz This is me

Duran Yıldız This is me

Tayfun Uçar This is me

Begüm Atasay This is me

Saadet Arsan This is me

Semra Atalay This is me

Publication Date June 1, 2013
Submission Date June 1, 2013
Published in Issue Year 2013 Volume: 7 Issue: 1,EK

Cite

Vancouver Kılıç A, Alan S, Karadeniz C, Yıldız D, Uçar T, Atasay B, Arsan S, Atalay S. A Case of Tuberous Sclerosis with Prenatally Diagnosed Cardiac Rhabdomyoma. Türkiye Çocuk Hast Derg. 2013;7(1,EK):16-9.


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