Coronary disease and aortopathy in achondroplasia

Abstract

Introduction. Achondroplasia is an inherited autosomal dominant disorder and the most prevalent cause of dwarfism in humans. Case Report. A 38-year-old male with achondroplasia required cardiothoracic surgical treatment. Standing at 150 cm, weighing 68 kg, with a body surface area index of 1.68 m?, he had a history of diagnosed hypertension and Chiari malformation. A transthoracic echocardiogram five years ago revealed mild aortic regurgitation. In the recent cardiac examination, moderate-to-severe aortic regurgitation, dilation of the Valsalva sinus, and coronary artery disease were observed. The elective cardiothoracic surgery included mechanical aortic valve replacement and myocardial revascularization with a single bypass. Histopathological analysis of the aortic wall indicated mucoid degeneration, atherosclerosis, and focal adventitial hemorrhages. The postoperative course was uneventful, and normal blood pressure values were confirmed with a Holter monitor. Conclusion. A comprehensive cardiac evaluation is crucial for patients with achondroplasia, emphasizing the significance of considering echocardiographic parameters in the context of anthropometric characteristics. The proficiency and readiness of adult physicians to consistently provide accurate diagnosis and treatment, especially in urgent interventions or surgical procedures, are essential.