Acute heart failure in a neonate
10.7499/j.issn.1008-8830.2311087
- VernacularTitle:新生儿急性心功能不全1例
- Author:
Shu-Juan LI
1
;
Li-Yuan HU
;
Rong ZHANG
;
Lin YANG
;
Li XI
;
Fang LIU
;
Yun CAO
;
Wen-Hao ZHOU
;
Guo-Qiang CHENG
Author Information
1. 国家儿童医学中心/复旦大学附属儿科医院新生儿科,上海 201102
- Keywords:
Heart failure;
TBX19 gene;
Congenital isolated adrenocorticotropic hormone deficiency;
Neonate
- From:
Chinese Journal of Contemporary Pediatrics
2024;26(3):321-324,封3
- CountryChina
- Language:Chinese
-
Abstract:
The male patient,one day old,was admitted to the hospital due to hypoglycemia accompanied by apnea appearing six hours after birth.The patient had transient hypoglycemia early after birth,and acute heart failure suddenly occurred on the eighth day after birth.Laboratory tests showed significantly reduced levels of adrenocorticotropic hormone and cortisol,and pituitary magnetic resonance imaging was normal.Genetic testing results showed that the patient had probably pathogenic compound heterozygous mutations of the TBX19 gene(c.917-2A＞G+c.608C＞T),inherited respectively from the parents.The patient was conclusively diagnosed with congenital isolated adrenocorticotropic hormone deficiency caused by mutation of the TBX19 gene.Upon initiating hydrocortisone replacement therapy,cardiac function rapidly returned to normal.After being discharged,the patient continued with the hydrocortisone replacement therapy.By the 18-month follow-up,the patient was growing and developing well.In neonates,unexplained acute heart failure requires caution for possible endocrine hereditary metabolic diseases,and timely cortisol testing and genetic testing should be conducted.[Chinese Journal of Contemporary Pediatrics,2024,26(3):321-324,V]
