A rare case report of type 1 congenital disorders of glycosylation with acute decompensated heart failure and the incidental discovery of congenital disorders of glycosylation associated dilated cardiomyopathy and acute myocarditis

Woo Sze Yang; Suchi Grover; Emma Smith; Joseph B Selvanayagam

doi:10.1093/ehjcr/ytae088

A rare case report of type 1 congenital disorders of glycosylation with acute decompensated heart failure and the incidental discovery of congenital disorders of glycosylation associated dilated cardiomyopathy and acute myocarditis

Eur Heart J Case Rep. 2024 Mar 6;8(3):ytae088. doi: 10.1093/ehjcr/ytae088. eCollection 2024 Mar.

Authors

Woo Sze Yang^{1

2}, Suchi Grover^{1

3}, Emma Smith⁴, Joseph B Selvanayagam^{1

2

3}

Affiliations

¹ Department of Cardiology, Flinders Medical Centre, Flinders Dr, Bedford Park, Adelaide, SA 5042, Australia.
² Heart Health, South Australian Health Medical and Research Institute, North Terrace, Adelaide, SA 5000, Australia.
³ College of Medicine and Public Health, Flinders University, Sturt Rd, Bedford Park, Adelaide, SA 5042, Australia.
⁴ South Australian Medical Imaging, Flinders Medical Centre, Bedford Park, Adelaide, SA, Australia.

Abstract

Background: Congenital disorders of glycosylation (CDG) are rare genetically inherited defects leading to enzyme deficiency or malfunction in the glycosylation pathway. Normal glycosylation is essential to the development of normal cardiac anatomy and function. Congenital disorders of glycosylation-related cardiomyopathy are often the first manifestation detected in early life and may lead to sudden cardiac death. Approximately one-fifth of CDG types are related to cardiac diseases that include cardiomyopathy, rhythm disturbances, pericardial effusions, and structural heart disease.

Case summary: We report a rare case of a 26-year-old lady with CDG-1 who presented with acute-onset dyspnoea. She had respiratory tract symptoms for the past 2 weeks. With the relevant clinical and biochemical findings, including supportive findings on echocardiogram and cardiac magnetic resonance imaging, we have managed to arrive at a diagnosis of severe pneumonia leading to acute decompensated heart failure, as well as the discovery of an underlying CDG-associated dilated cardiomyopathy (DCM) and acute myocarditis. Anti-failure medications and i.v. methylprednisolone were commenced, and she showed gradual clinical improvement with an increase of her left ventricular function. She was discharged home well with anti-failure therapy, prednisolone, and a follow-up echocardiogram with further review in the heart failure clinic.

Discussion: In conclusion, this case report highlights the need for accurate diagnosis and prompt management of CDG-associated DCM, leading to a successful recovery and discharge from hospital care. With this, we hope to add to the increasing number of reported cases of CDG-related cardiac disease in the medical literature to emphasize the importance of screening and follow-up for any underlying cardiac diseases in patients with CDG.

Keywords: Acute myocarditis; Cardiac magnetic resonance; Case report; Congenital disorders of glycosylation; Dilated cardiomyopathy; Heart failure.

Publication types

Case Reports