Unrecognised heart failure masquerading as gastrointestinal illness: lessons from a fatal case of adolescent dilated cardiomyopathy and implications for paediatric cardiac screening

Abstract

Background  Dilated cardiomyopathy (DCM) is the most frequent cause of paediatric heart failure and the leading indication for cardiac transplantation in children and adolescents. Its diagnosis in acute care settings is frequently delayed by atypical, gastrointestinal-predominant presentations that closely mimic non-cardiac illness. No pathognomonic clinical features reliably distinguish paediatric heart failure from benign alimentary conditions, making heightened clinical suspicion indispensable.

Case presentation  A 17-year-old male presented to the Emergency Department with epigastric pain and vomiting attributed to dietary indiscretion. An identical presentation two days earlier had been managed as food intoxication and discharged without cardiac investigation. On the index admission, examination revealed pallor, muffled heart sounds, and coarse breath sounds bilaterally. Vital signs demonstrated sinus tachycardia (heart rate 178 bpm), blood pressure 107/70 mmHg, respiratory rate 22 breaths/min, and peripheral oxygen saturation 96%. Biochemistry showed elevated transaminases (ALT 65 U/L; AST 86 U/L), hyponatraemia (131 mmol/L), hypocalcaemia (1.1 mmol/L), arterial hypoxaemia (pO₂ 28 mmHg), and a borderline metabolic acidosis. Electrocardiography prompted echocardiography, which demonstrated a severely dilated left ventricle with markedly depressed systolic function (ejection fraction 16% by Simpson’s biplane method) and functional mitral and aortic regurgitation, consistent with advanced DCM. Family history subsequently disclosed the premature cardiac death of a sibling, raising strong suspicion of a heritable cardiomyopathy. The patient was referred to a cardiology centre but died two months later, prior to device implantation.

Conclusion  Epigastric pain and vomiting in an adolescent may represent the sole presenting features of advanced heart failure secondary to DCM. A systematic clinical approach — encompassing vigilant vital sign interpretation, thorough cardiorespiratory examination, and a low threshold for electrocardiography and echocardiography — is indispensable to avoiding catastrophic diagnostic delay. Population-level cardiac screening incorporating ECG and echocardiography represents a critical preventive strategy against sudden cardiac death in children and adolescents.

Keywords  dilated cardiomyopathy; paediatric heart failure; sudden cardiac death; diagnostic delay; cardiac screening; adolescent; masquerading presentation; case report