Related Experiment Video
Updated: Jan 30, 2026
Implantation of Total Artificial Heart in Congenital Heart Disease
Published on: July 18, 2014
Congenital adrenal hyperplasia with salt-wasting crisis and arrhythmia: a case study
Johnny Figueroa Canlas1, Caroline Ponmani1
1Department of Paediatrics, Barking Havering and Redbridge University Hospitals NHS Trust, Romford, UK.
Insights
A 10-day-old infant
Area of Science:
- Pediatric Endocrinology
- Genetics
- Neonatal Medicine
Background:
- Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands.
- The salt-wasting form of CAH, often due to 21-hydroxylase deficiency, can lead to life-threatening electrolyte imbalances in neonates.
- Early recognition and treatment are crucial for managing CAH crises.
Observation:
- A 10-day-old male infant presented with severe electrolyte imbalance (hyponatremia, hyperkalemia, metabolic acidosis) and bradycardia.
- Clinical signs included poor feeding, lethargy, and dehydration.
- ECG revealed broad complex bradycardia, indicative of a critical cardiac event.
Findings:
- Prompt treatment with saline, hydrocortisone, and other supportive measures rapidly improved the infant's heart rate and rhythm.
- Genetic studies confirmed the diagnosis of CAH secondary to a mutation in the CYP21A2 gene (21-hydroxylase deficiency).
- The infant's condition stabilized, allowing for discharge on appropriate hormone replacement therapy.
Implications:
- This case highlights the importance of considering CAH in neonates presenting with severe electrolyte disturbances and cardiac abnormalities.
- Timely diagnosis and intervention are vital for preventing mortality and morbidity associated with CAH salt-wasting crises.
- Genetic confirmation aids in understanding disease mechanisms and family counseling.
Abstract:
We report a case of a 10-day-old male infant who presented to the emergency department with severe electrolyte imbalance and life-threatening arrhythmia. The parents reported a 3-day history of poor feeding and lethargy. On examination, he was bradycardic (heart rate of 65 beats/min) with signs of dehydration. His ECG showed broad complex bradycardia. Blood gas showed metabolic acidosis with hyponatraemia and hyperkalaemia. A probable diagnosis of congenital adrenal hyperplasia (CAH) with salt-wasting crisis was made and treatment was commenced. He was given saline bolus, nebulised salbutamol, calcium gluconate and hydrocortisone. Following the above interventions, his heart rate rose to 150 beats/min with a regular sinus rhythm within a period of 40 min. The diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. He was discharged home with hydrocortisone, fludrocortisone and sodium chloride.
Related Concept Videos
01:16ECG Interpretation of Arrhythmias I: Sinus Arrhythmias
Types of Arrhythmias
Sinus Node Arrhythmias
Sinus Bradycardia: Originating from the sinoatrial (SA) node, sinus bradycardia involves slower impulses, resulting in a heart rate of less than 60 beats per minute (bpm). Causes include sleep, vagal stimulation, beta-blockers, hypothyroidism,...
04:08Determining the pH of Salt Solutions
02:02Responses to Salt Stress
01:25ECG Interpretation of Arrhythmias II: Atrial, Junctional and Ventricular Arrhythmias
01:17Anatomy of the Adrenal Glands
These glands possess a distinctive yellow tinge due to the stored cholesterol and fatty acids required for hormone synthesis. They are encased in a fibrous capsule and cushioned by fat.
The adrenal gland comprises two distinct...
01:27Adrenal Gland Disorders
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...