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Background: Diagnosing the cause of undifferentiated left ventricular hypertrophy (LVH) in a patient with progressive heart failure symptoms can present a diagnostic challenge, with potential for both inherited and acquired aetiologies. Hydroxychloroquine-induced cardiomyopathy (HCQ-CM) is a rare complication of long-term hydroxychloroquine use. This case report highlights its clinical presentation, key differential diagnoses, and treatment strategies.
Case Summary: A 56-year-old female with a longstanding history of systemic lupus erythematosus presented with progressive dyspnoea, fatigue, and fluid overload. Initial investigation revealed LVH with restrictive physiology, elevated cardiac biomarkers, and non-specific findings on echocardiography suggestive of an infiltrative cardiomyopathy. The diagnosis remained uncertain until an endomyocardial biopsy (EMB) confirmed HCQ-CM, characterized by the presence of curvilinear inclusion bodies. Following cessation of HCQ, there was a significant clinical improvement, with the patient achieving NYHA class I status at 6 months follow-up.
Conclusion: This case highlights the critical importance of considering HCQ-CM, in the differential diagnosis of unexplained heart failure and LVH in patients on long-term HCQ therapy. A multi-parametric diagnostic approach-including EMB and genetic testing where appropriate-is essential to identify potentially reversible causes of cardiomyopathy and enable timely therapeutic adjustments.
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http://dx.doi.org/10.1093/ehjcr/ytaf377 | DOI Listing |
Eur Heart J Case Rep
September 2025
Advanced Heart Failure and Cardiac Transplant Service, Fiona Stanley Hospital, 11 Robin Warren Drive, Murdoch, WA 6150, Australia.
Background: Diagnosing the cause of undifferentiated left ventricular hypertrophy (LVH) in a patient with progressive heart failure symptoms can present a diagnostic challenge, with potential for both inherited and acquired aetiologies. Hydroxychloroquine-induced cardiomyopathy (HCQ-CM) is a rare complication of long-term hydroxychloroquine use. This case report highlights its clinical presentation, key differential diagnoses, and treatment strategies.
View Article and Find Full Text PDFItal J Pediatr
September 2025
Department of Pulmonology, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang Province, China.
Background: In pulmonary surfactants, surfactant protein C (SP-C) plays a critical role in regulating surface tension at the air-liquid interface of alveoli, primarily due to its robust hydrophobic property. Genetic mutations in the SP-C gene can compromise its structural integrity, thereby impairing its functional efficiency in surface tension modulation.
Method: A retrospective analysis was performed on 11 pediatric patients harboring SP-C gene mutations who were admitted to our medical center between June 2014 and June 2024.
J Am Acad Dermatol
August 2025
Department of Dermatology, Xiangya Hospital, Central South University, Changsha, China. Electronic address:
Cureus
July 2025
College of Medicine, Taif University, Taif, SAU.
In children, Q fever often presents as an acute febrile illness, sometimes with pneumonia or hepatitis. We report in this case a 38-month-old girl with complex congenital heart disease (tetralogy of Fallot, pulmonary atresia, and ventricular septal defect) who presented with a four-day history of fever, shortness of breath, and vomiting. She had prior cardiac interventions.
View Article and Find Full Text PDFJ Dermatol
August 2025
School of Medicine, Nankai University, Tianjin, China.
Nail lichen planus (NLP) is a rare, chronic inflammatory nail disorder that can result in irreversible damage. While clinical awareness is growing, long-term real-world data-particularly incorporating histopathological confirmation and treatment outcomes-remains limited. We retrospectively analyzed 81 biopsy-confirmed NLP cases (2016-2024) from a Chinese dermatology center to characterize their epidemiological, clinical, histological features, treatment responses, and long-term outcomes.
View Article and Find Full Text PDF