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A sinus of Valsalva aneurysm (SOVA) is a rare cardiac condition characterized by an abnormal dilation of the aortic root between the aortic valve annulus and the sinotubular junction. A ruptured SOVA can be identified through various diagnostic tools, including echocardiography, cardiac computed tomography (CT), and cardiac magnetic resonance imaging.

Here, we present a case series of three patients with SOVA who were promptly diagnosed via CT and successfully managed, leading to significant symptom relief for the patients. Each case in this series presented unique clinical features: the first, an asymptomatic 51-yearold female with two saccular aneurysms incidentally found during preoperative evaluation; the second, a 36-year-old male with atypical chest pain and a large ventricular septal defect associated with right coronary cusp prolapse and mild aortic regurgitation; and the third, a 24-year-old male with severe tricuspid regurgitation due to a ruptured aneurysm from the right
coronary sinus, accompanied by a bicuspid aortic valve and high-origin right coronary artery. All patients underwent successful surgical repair with complete resolution of symptoms, no postoperative complications, and normalized cardiac function confirmed on follow-up imaging.

This case series aims to highlight the diverse clinical presentations, timely diagnosis, and successful management of SOVA, a rare but potentially serious cardiac condition.

Hunter syndrome (MPS-II) is a rare X-linked lysosomal storage disorder caused by iduronate-2-sulfatase deficiency, resulting in glycosaminoglycan (GAG) accumulation and multisystem dysfunction. It predominantly affects males, leading to skeletal deformities, neurocognitive decline, organomegaly, and distinctive facial features. The impact of Hunter syndrome in Nigeria and resource-limited settings is far-reaching due to diagnostic obstacles, underreporting, and limited access to specialized care. This report elucidates the clinical presentation, diagnostic difficulties, and management of two siblings diagnosed with Hunter syndrome in Southeast Nigeria years after the onset of symptoms. Their clinical histories, physical examinations, laboratory investigations, and treatment modalities were systematically documented and analyzed. Both siblings displayed characteristic clinical features of Hunter syndrome: coarse facial features, macroglossia, skeletal deformities, hepatosplenomegaly, and developmental regression. The older sibling had a more severe expression of the disorder. Urinary GAG levels, particularly heparan sulfate, were elevated with significantly reduced iduronate-2-sulfatase levels. Cranial imaging showed cerebral atrophy, hydrocephalus, and multi-suture synostosis. With financial constraints, confirmatory genetic testing, enzyme replacement therapy (ERT), and gene therapy were not accessed, leading to symptomatic management instead. Hunter syndrome is underdiagnosed and underreported in Nigeria, primarily due to insufficient clinical awareness, lack of newborn screening, and financial barriers to diagnostic and therapeutic access. This case series highlights the urgent necessity for enhanced awareness among healthcare providers, early identification of clinical features, and advocacy for accessible genetic testing and ERT. International collaborations are essential for optimizing care and improving outcomes for individuals affected by rare genetic disorders in low-resource environments.