Cardiac diverticulum

Cardiac diverticulum (also known as congenital diverticulum of the heart or ventricular diverticulum) is a rare congenital cardiac malformation characterized by an outpouching or sac-like protrusion from the wall of the heart, most commonly arising from the left ventricle. This outpouching maintains a connection with the cardiac chamber and typically contains all layers of the heart wall (endocardium, myocardium, and pericardium), which distinguishes it from cardiac aneurysms where the muscular layer is often absent or thinned. The condition can occur as an isolated finding or as part of a broader spectrum of midline developmental defects, including the Cantrell pentalogy (a syndrome involving defects of the diaphragm, abdominal wall, pericardium, sternum, and heart). Cardiac diverticulum primarily affects the cardiovascular system but may also be associated with thoraco-abdominal midline defects when it occurs as part of a syndrome. Key clinical features vary depending on the size and location of the diverticulum and may include heart murmurs, arrhythmias, chest pain, and in some cases, heart failure or thromboembolic events. Many patients, particularly those with small diverticula, may remain asymptomatic and the condition may be discovered incidentally during cardiac imaging. In severe cases, there is a risk of rupture, which can be life-threatening. The condition is typically detected prenatally or in the neonatal period through echocardiography, though diagnosis can occur at any age. Treatment depends on the size, symptoms, and associated complications. Small, asymptomatic diverticula may be managed conservatively with regular cardiac monitoring and echocardiographic surveillance. Surgical resection is generally recommended for large or symptomatic diverticula, particularly when there is a risk of rupture, thromboembolism, or significant arrhythmias. Anticoagulation therapy may be considered in cases with thrombus formation. Outcomes following surgical repair are generally favorable, though long-term follow-up is recommended to monitor for recurrence or late complications.

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