Case report: Restrictive cardiomyopathy presenting with complete thromboembolism occlusion of the terminal part of the abdominal aorta in a preadolescent Saudi girl

Abstract

Restrictive cardiomyopathy (RCM) is a rare disease in children, accounting for <5% of all pediatric cardiomyopathies. It may be idiopathic or may be a secondary to a systemic disease. The disease is characterized by normal systolic function with impaired ventricular filling caused by stiff ventricular walls. Children with RCM often present with symptoms of exercise intolerance, shortness of breath, weakness, and chest discomfort. Thromboembolism events are an unusual presentation of RCM. We are reporting a preadolescent female from the eastern province of Saudi Arabia who presented with sudden right lower limb swelling, paresthesia, and pain caused by a complete occlusion of the terminal part of the abdominal aorta and both common iliac arteries. Echocardiography revealed dilated atria, normal ventricle dimensions and two floating thrombi in the left atrium. The patient was successfully managed with an anticoagulant, surgical thrombectomy and cardiac transplantation.

Paediatric Restrictive Cardiomyopathy - Diagnosis and Challenges

“… 5 On the other hand, a case reported from Saudi Arabia reported an 11-year-old girl who presented with lower limb swelling and paraesthesia with no chest pain or shortness of breath, diagnosed with thromboembolism and RCM and treated with cardiac transplant. 8 Therefore, the non-specific signs and symptoms of RCM may lead to an initial diagnosis of different respiratory or alimentary illnesses and the cardiac diagnosis may be missed or delayed as in the current 2 cases.…”

“…7 Commenting on the diastolic function in the paediatric age group may be difficult due to the variability of presentation or the need for sedation. 8 Echocardiography can also differentiate between RCM and constrictive pericarditis (CP), which changes the management completely. 9 In CP, the chamber compliance is reduced due to external pressure, causing an increased interventricular dependence and irregularity between intracardiac and intrathoracic pressure during respiration as shown by doppler echocardiography along with septal shifting.…”