PMID- 33590972
OWN - NLM
STAT- MEDLINE
DCOM- 20210809
LR  - 20211204
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 185
IP  - 5
DP  - 2021 May
TI  - Everolimus for severe arrhythmias in tuberous sclerosis complex related cardiac 
      rhabdomyomas.
PG  - 1525-1531
LID - 10.1002/ajmg.a.62120 [doi]
AB  - Intracardiac rhabdomyoma is the most common primary cardiac tumor in children. 
      Most cases are associated with tuberous sclerosis complex (TSC). Most of them are 
      asymptomatic in the neonate and do not require treatment. However, some develop 
      cardiovascular symptoms such as arrhythmias, heart failure, and ventricular 
      inflow/outflow tract obstruction in the neonatal period with early death. Many of 
      these tumors are not candidates for surgical resection and medical management is 
      limited. Treatment with mammalian target of rapamycin (mTOR) inhibitor is 
      currently approved for the management of central nervous tumors and 
      angiomyolipoma in TSC. Two patients with malignant arrhythmias related to 
      nonsurgical multiple rhabdomyomas associated with TSC who were successfully 
      treated with an mTOR inhibitor were described. Everolimus therapy showed 
      significant regression of rhabdomyomas with rapid improvement of arrhythmias and 
      heart failure prior to tumor shrinkage.
CI  - (c) 2021 Wiley Periodicals LLC.
FAU - Silva-Sanchez, Maria P
AU  - Silva-Sanchez MP
AUID- ORCID: 0000-0003-2346-6455
AD  - Universidad Industrial de Santander, Bucaramanga, Colombia.
FAU - Alvarado-Socarras, Jorge L
AU  - Alvarado-Socarras JL
AUID- ORCID: 0000-0001-7208-5881
AD  - Fundacion Cardiovascular de Colombia, Floridablanca, Colombia.
FAU - Castro-Monsalve, Javier
AU  - Castro-Monsalve J
AUID- ORCID: 0000-0003-2003-0939
AD  - Fundacion Cardiovascular de Colombia, Floridablanca, Colombia.
FAU - Meneses, Keyla Milena
AU  - Meneses KM
AUID- ORCID: 0000-0002-5612-7014
AD  - Fundacion Cardiovascular de Colombia, Floridablanca, Colombia.
FAU - Santiago, Justo
AU  - Santiago J
AUID- ORCID: 0000-0001-8238-3209
AD  - Fundacion Cardiovascular de Colombia, Floridablanca, Colombia.
FAU - Prada, Carlos E
AU  - Prada CE
AUID- ORCID: 0000-0003-3348-3531
AD  - Fundacion Cardiovascular de Colombia, Floridablanca, Colombia.
AD  - Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 
      Cincinnati, Ohio, USA.
AD  - Department of Pediatrics, University of Cincinnati College of Medicine, 
      Cincinnati, Ohio, USA.
LA  - eng
PT  - Case Reports
DEP - 20210216
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (Antineoplastic Agents)
RN  - 9HW64Q8G6G (Everolimus)
RN  - EC 2.7.1.1 (MTOR protein, human)
RN  - EC 2.7.11.1 (TOR Serine-Threonine Kinases)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Antineoplastic Agents/administration & dosage
MH  - Child
MH  - Child, Preschool
MH  - Everolimus/*administration & dosage
MH  - Female
MH  - Heart Neoplasms/complications/*drug therapy/pathology
MH  - Heart Ventricles/drug effects/pathology
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Rhabdomyoma/*drug therapy/pathology
MH  - TOR Serine-Threonine Kinases/antagonists & inhibitors/genetics
MH  - Treatment Outcome
MH  - Tuberous Sclerosis/complications/*drug therapy/pathology
MH  - Young Adult
OTO - NOTNLM
OT  - arrhythmias
OT  - cardiac
OT  - everolimus
OT  - rhabdomyoma
OT  - tuberous sclerosis
EDAT- 2021/02/17 06:00
MHDA- 2021/08/10 06:00
CRDT- 2021/02/16 08:38
PHST- 2021/01/17 00:00 [revised]
PHST- 2020/11/21 00:00 [received]
PHST- 2021/01/19 00:00 [accepted]
PHST- 2021/02/17 06:00 [pubmed]
PHST- 2021/08/10 06:00 [medline]
PHST- 2021/02/16 08:38 [entrez]
AID - 10.1002/ajmg.a.62120 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2021 May;185(5):1525-1531. doi: 10.1002/ajmg.a.62120. Epub 2021 
      Feb 16.