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Cardiac rhabdomyoma

MedGen UID:
232027
Concept ID:
C1332852
Neoplastic Process
Synonyms: Cardiac Rhabdomyoma; cardiac rhabdomyoma; cardiac rhabdomyoma (disease); Heart Rhabdomyoma; heart rhabdomyoma; Rhabdomyoma of Heart; rhabdomyoma of heart; Rhabdomyoma of the Heart; rhabdomyoma of the heart
 
HPO: HP:0009729
Monarch Initiative: MONDO:0006123

Definition

A benign tumor of cardiac striated muscle. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Cardiac rhabdomyoma

Conditions with this feature

Gorlin syndrome
MedGen UID:
2554
Concept ID:
C0004779
Neoplastic Process
Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs) usually from the third decade onward. Approximately 60% of individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in more than 90% of affected individuals by age 20 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average.
Tuberous sclerosis 1
MedGen UID:
344288
Concept ID:
C1854465
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.
Tuberous sclerosis 2
MedGen UID:
348170
Concept ID:
C1860707
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.
Tolchin-Le Caignec syndrome
MedGen UID:
1724999
Concept ID:
C5436509
Disease or Syndrome
Tolchin-Le Caignec syndrome (TOLCAS) is a developmental disorder characterized by mildly to moderately impaired intellectual development and behavioral problems, such as autism, ADHD, labile mood, and aggressive episodes. Many patients have bony abnormalities, including osteochondroma, craniosynostosis, dysmorphic facies, arachnodactyly, and large head circumference. Rarely, additional congenital anomalies may also be observed. These additional features and the bony defects are highly variable (summary by Tolchin et al., 2020).

Professional guidelines

PubMed

Yıldırım S, Aypar E, Aydın B, Akyüz C, Aykan HH, Ertuğrul İ, Karagöz T, Alehan D
Turk J Pediatr 2023;65(3):479-488. doi: 10.24953/turkjped.2022.922. PMID: 37395967
Zhai S, Liu L, Yuan L, Zhao L, Lv Y, Guo J, Yang X
J Perinatol 2023 Jul;43(7):864-870. Epub 2023 Jun 17 doi: 10.1038/s41372-023-01673-w. PMID: 37330616
Zhen L, Yang YD, He Y, Pan M, Han J, Yang X, Xu LL, Li DZ
Eur J Obstet Gynecol Reprod Biol 2020 Jun;249:7-10. Epub 2020 Apr 10 doi: 10.1016/j.ejogrb.2020.03.051. PMID: 32320828

Recent clinical studies

Etiology

Yıldırım S, Aypar E, Aydın B, Akyüz C, Aykan HH, Ertuğrul İ, Karagöz T, Alehan D
Turk J Pediatr 2023;65(3):479-488. doi: 10.24953/turkjped.2022.922. PMID: 37395967
Zhai S, Liu L, Yuan L, Zhao L, Lv Y, Guo J, Yang X
J Perinatol 2023 Jul;43(7):864-870. Epub 2023 Jun 17 doi: 10.1038/s41372-023-01673-w. PMID: 37330616
Touraine R, Hauet Q, Harzallah I, Baruteau AE
Arch Pediatr 2022 Dec;29(5S):5S3-5S7. doi: 10.1016/S0929-693X(22)00283-4. PMID: 36585068
Ahmed MA, Shahwar D, Zaidi KA
J Pak Med Assoc 2022 Sep;72(9):1652-1655. doi: 10.47391/JPMA.3558. PMID: 36280992
Chao AS, Chao A, Wang TH, Chang YC, Chang YL, Hsieh CC, Lien R, Su WJ
Ultrasound Obstet Gynecol 2008 Mar;31(3):289-95. doi: 10.1002/uog.5264. PMID: 18307215

Diagnosis

Zhai S, Liu L, Yuan L, Zhao L, Lv Y, Guo J, Yang X
J Perinatol 2023 Jul;43(7):864-870. Epub 2023 Jun 17 doi: 10.1038/s41372-023-01673-w. PMID: 37330616
Touraine R, Hauet Q, Harzallah I, Baruteau AE
Arch Pediatr 2022 Dec;29(5S):5S3-5S7. doi: 10.1016/S0929-693X(22)00283-4. PMID: 36585068
Al Kindi HN, Ibrahim AM, Roshdy M, Abdelghany BS, Yehia D, Masoud AN, Simry W, Aguib Y, Yacoub MH
Cardiol Young 2021 Aug;31(8):1297-1305. Epub 2021 Feb 19 doi: 10.1017/S1047951121000172. PMID: 33602381
Zhen L, Yang YD, He Y, Pan M, Han J, Yang X, Xu LL, Li DZ
Eur J Obstet Gynecol Reprod Biol 2020 Jun;249:7-10. Epub 2020 Apr 10 doi: 10.1016/j.ejogrb.2020.03.051. PMID: 32320828
Amonkar GP, Kandalkar BM, Balasubramanian M
Cardiovasc Pathol 2009 Sep-Oct;18(5):313-4. Epub 2008 Apr 15 doi: 10.1016/j.carpath.2008.02.002. PMID: 18417369

Therapy

Yıldırım S, Aypar E, Aydın B, Akyüz C, Aykan HH, Ertuğrul İ, Karagöz T, Alehan D
Turk J Pediatr 2023;65(3):479-488. doi: 10.24953/turkjped.2022.922. PMID: 37395967
Pearsson K, Björk Werner J, Lundgren J, Gränse L, Karlsson E, Källén K, Eklund EA, Bekassy Z
BMC Pediatr 2023 Jun 29;23(1):329. doi: 10.1186/s12887-023-04137-4. PMID: 37386496Free PMC Article
Çetiner N, Kavas N, Küçükosmanoğlu O
Pediatr Int 2022 Jan;64(1):e15188. doi: 10.1111/ped.15188. PMID: 35605248
Sugalska M, Tomik A, Jóźwiak S, Werner B
Int J Environ Res Public Health 2021 May 5;18(9) doi: 10.3390/ijerph18094907. PMID: 34062963Free PMC Article
Yozgat Y, Kus HD, Kahraman FU, Yuksel M, Firat CK, Toprak A, Yozgat CY, Yakut K, Sahin SS, Iscan A, Temur HO, Ergor SN, Erenberk U, Saritas T
Arch Pediatr 2021 Apr;28(3):204-208. Epub 2021 Mar 11 doi: 10.1016/j.arcped.2021.02.008. PMID: 33715930

Prognosis

Zhai S, Liu L, Yuan L, Zhao L, Lv Y, Guo J, Yang X
J Perinatol 2023 Jul;43(7):864-870. Epub 2023 Jun 17 doi: 10.1038/s41372-023-01673-w. PMID: 37330616
Touraine R, Hauet Q, Harzallah I, Baruteau AE
Arch Pediatr 2022 Dec;29(5S):5S3-5S7. doi: 10.1016/S0929-693X(22)00283-4. PMID: 36585068
Chen HY, Huang SC, Chen SJ
J Formos Med Assoc 2016 Aug;115(8):678-9. Epub 2016 May 13 doi: 10.1016/j.jfma.2015.12.005. PMID: 27185619
Amonkar GP, Kandalkar BM, Balasubramanian M
Cardiovasc Pathol 2009 Sep-Oct;18(5):313-4. Epub 2008 Apr 15 doi: 10.1016/j.carpath.2008.02.002. PMID: 18417369
Chao AS, Chao A, Wang TH, Chang YC, Chang YL, Hsieh CC, Lien R, Su WJ
Ultrasound Obstet Gynecol 2008 Mar;31(3):289-95. doi: 10.1002/uog.5264. PMID: 18307215

Clinical prediction guides

Touraine R, Hauet Q, Harzallah I, Baruteau AE
Arch Pediatr 2022 Dec;29(5S):5S3-5S7. doi: 10.1016/S0929-693X(22)00283-4. PMID: 36585068
Ng SY, Luk HM, Hau EW, Cheng SS, Yu KP, Ho S, Mok MT, Lo IF
Eur J Med Genet 2022 Oct;65(10):104573. Epub 2022 Jul 31 doi: 10.1016/j.ejmg.2022.104573. PMID: 35918040
Sugalska M, Tomik A, Jóźwiak S, Werner B
Int J Environ Res Public Health 2021 May 5;18(9) doi: 10.3390/ijerph18094907. PMID: 34062963Free PMC Article
Ide T, Miyoshi T, Katsuragi S, Neki R, Kurosaki KI, Shiraishi I, Yoshimatsu J, Ikeda T
J Matern Fetal Neonatal Med 2019 Aug;32(15):2463-2468. Epub 2018 Feb 20 doi: 10.1080/14767058.2018.1438402. PMID: 29415597
Chao AS, Chao A, Wang TH, Chang YC, Chang YL, Hsieh CC, Lien R, Su WJ
Ultrasound Obstet Gynecol 2008 Mar;31(3):289-95. doi: 10.1002/uog.5264. PMID: 18307215

Recent systematic reviews

Sugalska M, Tomik A, Jóźwiak S, Werner B
Int J Environ Res Public Health 2021 May 5;18(9) doi: 10.3390/ijerph18094907. PMID: 34062963Free PMC Article
Cavalcante CTMB, Pinto Junior VC, Pompeu RG, Teles ACO, Bandeira JA, Maia ICL, Tavora FRF, Cavalcante MB, Zamarian ACP, Araujo Júnior E, Castello Branco KM
J Matern Fetal Neonatal Med 2021 Jan;34(1):137-151. Epub 2019 Apr 2 doi: 10.1080/14767058.2019.1597044. PMID: 30895836
King JA, Stamilio DM
Am J Perinatol 2005 Feb;22(2):103-8. doi: 10.1055/s-2005-861572. PMID: 15731990

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