Abstract 13343: Left Ventricular Noncompaction Cardiomyopathy in a Family With Dolichol Kinase Congenital Disorder of Glycosylation

Introduction: During embryogenesis, failure of spongy, sinusoidal myocardium to condense results in left ventricular noncompaction cardiomyopathy (LVNC). The resulting LV is hypertrophic but loosely organized. LVNC is associated with heart failure (HF), arrhythmias, and thromboembolic events.

Case: A 41 year old man with a history of non-ischemic HF with recovered ejection fraction associated with signs of LVNC, LV thrombus, and ischemic stroke while compliant with rivaroxaban has been known to cardiology services for years. His brother who also exhibited LVNC and suffered thrombotic events died at age 31 from advanced HF. Uniquely, EKG for both brothers showed exceptionally low ventricular voltage, with P waves of higher amplitude than R waves. Genetic testing revealed a homozygous variant of unknown significance (VUS) in dolichol kinase (c.863_865del)(p.Leu288del) establishing a diagnosis of congenital disorder of glycosylation (DOLK-CDG). Metabolic testing was abnormal and, given phenotypic overlap of the brothers, it is likely that the VUS caused this clinical presentation.

Discussion: LVNC has never previously been linked with DOLK-CDG. In the literature, 27 patients with DOLK-CDG have been described ranging from 3 days to 16.5 years old at time of death. Nearly all patients expressed dilated cardiomyopathy, while others expressed a combination of ichthyosis, dysmorphism, and neurological dysfunction. Our patient reported good health until presentation with chest pain at age 35 when he was discovered to have ejection fraction of 40% and LV thrombus. The most curious finding was the paradoxically low ventricular EKG voltage in both brothers, dissimilar to the hypertrophic pattern commonly seen in LVNC. Yet all common MR criteria were met, strongly suggesting LVNC. Given the similarities in the presentation between brothers, this patient was preemptively referred for transplant.