Yang Woo Sze, Grover Suchi, Smith Emma, Selvanayagam Joseph B
Department of Cardiology, Flinders Medical Centre, Flinders Dr, Bedford Park, Adelaide, SA 5042, Australia.
Heart Health, South Australian Health Medical and Research Institute, North Terrace, Adelaide, SA 5000, Australia.
Eur Heart J Case Rep. 2024 Mar 6;8(3):ytae088. doi: 10.1093/ehjcr/ytae088. eCollection 2024 Mar.
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.
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.
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.
糖基化先天性疾病（CDG）是罕见的遗传性缺陷，会导致糖基化途径中的酶缺乏或功能异常。正常的糖基化对于正常心脏解剖结构和功能的发育至关重要。与糖基化先天性疾病相关的心肌病通常是在生命早期检测到的首发表现，可能导致心源性猝死。大约五分之一的CDG类型与心脏疾病有关，包括心肌病、心律失常、心包积液和结构性心脏病。
我们报告了一例罕见的26岁患有CDG-1型疾病的女性患者，她出现急性呼吸困难。在过去2周里她有呼吸道症状。结合相关临床和生化检查结果，包括超声心动图和心脏磁共振成像的支持性结果，我们成功诊断出严重肺炎导致急性失代偿性心力衰竭，同时发现潜在的与CDG相关的扩张型心肌病（DCM）和急性心肌炎。开始使用抗心力衰竭药物和静脉注射甲泼尼龙，她的临床症状逐渐改善，左心室功能增强。她在接受抗心力衰竭治疗、泼尼松龙并进行随访超声心动图检查后，在心衰门诊进一步复查，随后康复出院。
总之，本病例报告强调了对与CDG相关的DCM进行准确诊断和及时治疗的必要性，从而实现成功康复并出院。借此，我们希望增加医学文献中报道的与CDG相关的心脏疾病病例数量，以强调对CDG患者潜在心脏疾病进行筛查和随访的重要性。
