PMID- 35332001
OWN - NLM
STAT- MEDLINE
DCOM- 20220328
LR  - 20240324
IS  - 1757-790X (Electronic)
IS  - 1757-790X (Linking)
VI  - 15
IP  - 3
DP  - 2022 Mar 24
TI  - Neonatal rhabdomyoma with cardiac dysfunction: favourable response to sirolimus.
LID - 10.1136/bcr-2021-244915 [doi]
LID - e244915
AB  - Cardiac rhabdomyoma is the most common cardiac tumour in childhood, with a strong 
      genetic association to tuberous sclerosis complex. Although most of the patients 
      remain asymptomatic, a small proportion present with cardiac complications in the 
      early neonatal period. Timely initiation of treatment can potentially reduce 
      disease morbidity, and mammalian target of rapamycin (M-TOR) inhibitors play an 
      effective role in promoting regression of these tumours. A healthy term newborn 
      was diagnosed with a giant congenital cardiac rhabdomyoma at birth. He developed 
      clinical signs of compromised cardiac function and progressive myocardial 
      ischaemia, with echocardiography showing significant dyskinesia. He was treated 
      with M-TOR inhibitors and clinical response was monitored via serial 
      echocardiography. Remarkable regression of the tumour was visibly demonstrated 
      within 4 months of sirolimus treatment. The infant continues to be reviewed by a 
      multidisciplinary team of physicians and monitored for features of tuberous 
      sclerosis complex.
CI  - (c) BMJ Publishing Group Limited 2022. No commercial re-use. See rights and 
      permissions. Published by BMJ.
FAU - Duan, Menghao
AU  - Duan M
AUID- ORCID: 0000-0002-6596-7920
AD  - Paediatric Medicine, KK Women's and Children's Hospital, Singapore.
FAU - Sundararaghavan, Sreekanthan
AU  - Sundararaghavan S
AD  - Paediatric Cardiology, KK Women's and Children's Hospital, Singapore 
      sreekanthan.sundaraghavan@singhealth.com.sg.
FAU - Koh, Ai Ling
AU  - Koh AL
AD  - Paediatric Genetics, KK Women's and Children's Hospital, Singapore.
FAU - Soh, Shui Yen
AU  - Soh SY
AD  - Paediatric Haematology/Oncology, KK Women's and Children's Hospital, Singapore.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20220324
PL  - England
TA  - BMJ Case Rep
JT  - BMJ case reports
JID - 101526291
RN  - W36ZG6FT64 (Sirolimus)
SB  - IM
MH  - Female
MH  - *Heart Diseases/complications
MH  - *Heart Neoplasms/complications/diagnostic imaging/drug therapy
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - *Rhabdomyoma/complications/diagnostic imaging/drug therapy
MH  - Sirolimus/therapeutic use
MH  - *Tuberous Sclerosis/complications/diagnosis/drug therapy
PMC - PMC8948400
OTO - NOTNLM
OT  - cardiovascular medicine
OT  - genetics
OT  - paediatric oncology
OT  - paediatrics (drugs and medicines)
COIS- Competing interests: None declared.
EDAT- 2022/03/26 06:00
MHDA- 2022/03/29 06:00
PMCR- 2024/03/23
CRDT- 2022/03/25 05:35
PHST- 2022/03/25 05:35 [entrez]
PHST- 2022/03/26 06:00 [pubmed]
PHST- 2022/03/29 06:00 [medline]
PHST- 2024/03/23 00:00 [pmc-release]
AID - 15/3/e244915 [pii]
AID - bcr-2021-244915 [pii]
AID - 10.1136/bcr-2021-244915 [doi]
PST - epublish
SO  - BMJ Case Rep. 2022 Mar 24;15(3):e244915. doi: 10.1136/bcr-2021-244915.