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Updated: Jun 29, 2025
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A Modified Sonographic Algorithm for Image Acquisition in Life-Threatening Emergencies in the Critically Ill Newborn
Published on: April 7, 2023
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[Acute heart failure in a neonate].
Shu-Juan Li1, Li-Yuan Hu1, Rong Zhang1
1Department of Neonatology, Children's Hospital of Fudan University/National Children's Medical Center, Shanghai 201102 China.
Summary
Congenital isolated adrenocorticotropic hormone deficiency, a rare genetic disorder, can manifest as neonatal heart failure. Early diagnosis and hydrocortisone therapy are crucial for positive outcomes.
Area of Science:
- Endocrinology
- Genetics
- Neonatology
Context:
- Neonatal hypoglycemia and apnea can indicate underlying endocrine disorders.
- Acute heart failure in neonates necessitates a broad differential diagnosis, including rare genetic conditions.
Purpose:
- To report a case of congenital isolated adrenocorticotropic hormone deficiency presenting with neonatal heart failure.
- To highlight the importance of genetic testing for the TBX19 gene in diagnosing this condition.
Summary:
- A one-day-old male infant presented with hypoglycemia, apnea, and subsequent acute heart failure.
- Laboratory findings revealed low adrenocorticotropic hormone and cortisol levels, with normal pituitary MRI.
- Genetic testing identified compound heterozygous mutations in the TBX19 gene, confirming congenital isolated adrenocorticotropic hormone deficiency.
Impact:
- Early hydrocortisone replacement therapy rapidly resolved cardiac dysfunction and ensured normal growth and development.
- This case underscores the need for considering endocrine hereditary metabolic diseases in neonates with unexplained heart failure.
- Timely cortisol and genetic testing are vital for diagnosing and managing congenital isolated adrenocorticotropic hormone deficiency.
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