Sudden Infant Death due to Rupture of Cardiac Congenital Diverticulum: a rare autopsic finding

Congenital diverticulum of the left ventricle (LVNC) is a rare malformation consisting in a muscular or fibrotic protrusion of the free wall determined by an abnormal embryonal development of the ventricular wall that can occur by itself or in association to other cardiac abnormalities. Although in most cases asymptomatic, this malformation can cause ventricular arrhythmias, cardiac rupture, cardiac tamponade and sudden death. The American Heart Association attributed this type of malformation to a congenital cardiopathy in which the ventricular wall gains “spongy” features. Authors present the case of a sudden death in a newborn baby suffering from this rare congenital malformation. An eight-weeks old newborn deceased while at the H&E of a well-known hospital in Milan, due to a heart tamponade. The baby was suffering from a systolic murmur 3/6, patent foramen ovale and bicuspid aortic valve with a moderate stenosis subsequently treated by percutaneous balloon valvuloplasty surgery. The Magistrate in charge of the case ordered a judicial autopsy on the body of the infant 4 days after the exitus. During the autopsy, the hart examination showed on the anterior wall of the left ventricle an interruption of the wall integrity close to a subepicardial concameration located near the apex of the heart. The cause of death was attributed to this injury that led to a haemopericardiun tamponade caused by the rupture of a left ventricular congenital diverticulum. Histopathological forensic investigations, assessed on slides stained with Hematoxylin-Eosin, Masson’s trichrome and Phosphotungstic acid-haematoxylin (PTAH), demonstrated the evidence of a channel-like structure running through the muscle wall, covered by a layer of connective tissue very similar to the endocardial one. The infrequent malformation presented reflects the medical management problem of these cases of rare pathologies; at the moment, not having epidemiological data regarding the actual diagnosability and recognition of these malformations, it is advisable to always take under consideration this kind of possible pathologies that should always be considered as possible among the hypothetical pathologies involved. The characteristics of this rare anomaly and the difficulty of its diagnosis, require doctors, the greatest attention and carefulness keeping always in mind, during an event of sudden death in a newborn, these rare malformations considered unusual and not always mentioned in guidelines.