Ahmad Safdar

Cardiac iron overload is a rare but important adverse consequence of systemic iron overload, marked by the abnormal accumulation of iron in the myocardium. It is most typically caused by hereditary hemochromatosis (mutations in the HFE gene) or secondary iron overload conditions, such as transfusion-dependent anemias. Excess iron in the myocardium causes oxidative stress, cardiomyocyte damage, and progressive fibrosis, ultimately leading to cardiomyopathy. Clinical manifestations are diverse and may include heart failure, arrhythmias, and restrictive or dilated cardiomyopathy. Given the worsened prognosis with cardiac involvement, timely diagnosis and management are essential to improve clinical outcomes. This review provides a contemporary overview of the cardiovascular complications associated with iron overload, including clinical manifestations, diagnostic approaches, and treatment options.

Bicuspid aortic valve (BAV) is a common congenital cardiac anomaly, characterized by the presence of two functional aortic valve leaflets instead of the usual three. It affects approximately 1 – 2% of the population and is often associated with other cardiovascular complications, including aortic stenosis, aortic regurgitation, and aortic root dilation. BAV can present with a wide range of clinical manifestations, from asymptomatic individuals to those with severe aortic valve dysfunction or aortic dissection. The diagnosis of BAV is commonly established through non-invasive imaging techniques such as transthoracic and transesophageal echocardiography, with advanced modalities, such as computed tomography and magnetic resonance imaging providing superior delineation of valve morphology, aortic root measurements, and associated pathology. Management of BAV is multifaceted and depends on the severity of valvular and aortic involvement. Lifelong surveillance is often necessary, with serial imaging to monitor disease progression. Surgical intervention is indicated for patients with severe valve dysfunction, symptomatic disease, or aortic aneurysm exceeding established threshold diameters. Common procedures include aortic valve replacement (AVR) and composite graft repair, such as the Bentall or valve-sparing David procedure. Transcatheter AVR has also emerged as a less invasive alternative to surgical valve replacement within this patient population, with its indications expanding significantly in recent years due to growing interest and advancements in the field. Despite substantial progress in diagnostic and therapeutic strategies, BAV poses clinical challenges due to its heterogeneous presentation, genetic underpinnings, and the requirement for tailored management approaches.

Cardiac amyloidosis (CA) is a progressive condition resulting from the deposition of amyloid fibrils in the heart, which leads to severe diastolic dysfunction and restrictive cardiomyopathy. The disease has two main subtypes: light-chain and transthyretin (TTR) CA, with the latter subdivided into wild-type and hereditary forms. Despite advances in diagnostic imaging, early detection remains a challenge due to non-specific symptoms that mimic other cardiac conditions. Treatment has evolved significantly with targeted therapies like TTR stabilizers, gene silencers, and RNA interference, showing promise in altering disease progression. However, barriers such as high costs, limited availability of genetic testing, and inadequate multidisciplinary care continue to impede comprehensive management. Future strategies should focus on integrating novel gene-editing therapies, expanding access to diagnostics, and enhancing multidisciplinary care models to improve outcomes. Overall, early diagnosis, equitable access to therapies, and personalized management plans are crucial to advancing care for CA patients.