Isolated Right Ventricular Non-compaction as a Cause of Death in Cornelia de Lange Syndrome

Abstract

Abstract Introduction/Objective We report the case of a 32-year-old white male with a past medical history of bipolar disorder, autistic spectrum disorder, and Cornelia de Lange Syndrome (CdLS), who was admitted to the ED with cardiac arrest. Resuscitative efforts were unsuccessful. The autopsy revealed an isolated right ventricular non-compaction. Methods The non-compaction of the ventricular myocardium is a type of cardiomyopathy caused by aberrant embryogenesis, often presenting with other congenital cardiac defects, especially in syndromic patients. Such is the case with Cornelia de Lange Syndrome, in which multiple cardiac anomalies are commonly seen. However, only a few cases of ventricular non-compaction were reported for patients with CdLS. To our knowledge, this is the first case of CdLS with death attributed to the isolated right ventricular non-compaction cardiomyopathy. Results CdLS is characterized by intellectual disability, distinctive facial features, growth retardation, hirsutism, and malformation of multiple organ systems. In general, ventricular non-compaction is defined by the persistence of deep intertrabecular recesses that communicate with both the ventricular cavity and the coronary circulation. The two main diagnostic criteria include the absence of well-formed papillary muscles and more than 50% penetration of invaginated endocardial recesses toward the epicardial surface. Additional features include the presence of staghorn shaped endocardial recesses, endomyocardial thickening, and endocardial fibrosis. Clinical diagnosis is based on ECG, echocardiography, and ventricular angiography. Magnetic resonance imaging is also helpful in providing a good correlation with echocardiogram for localization and the extent of non-compaction. Conclusion In the general population, the non-compaction involves the left ventricle predominantly. The prevalence of iRVNC remains underestimated, and although echocardiography can aid in the diagnosis, the morphological assessment of RV continues to be difficult and challenging. Pathologists should be aware of non-compaction as a cause of sudden cardiac death in syndromic and non-syndromic patients when performing autopsies.