Loeys-Dietz syndrome and isolated severe ostial left main coronary stenosis presenting as ventricular fibrillation arrest and biventricular takotsubo syndrome in a 25-year-old patient

Abstract

We present the case of a previously healthy 25-year-old woman who presented with an out-of-hospital ventricular fibrillation arrest. Postresuscitation ECG did not show any evidence of ST segment elevation. Echocardiogram showed regional wall abnormalities in keeping with takotsubo syndrome (TTS). Urgent coronary angiogram to rule out malignant congenital coronary artery anomaly revealed an isolated severe ostial left main coronary artery (LMCA) stenosis, a rare disease, approximately 0.2% in previous case series. The LMCA was aneurysmal. Genetic studies revealed a novel frameshift pathogenic variant in the transforming growth factor B two ligand gene (TGFB2) gene, suggestive of Loeys-Dietz syndrome (LDS) type 4, an aggressive vascular disease. Ostial LMCA stenosis has not been previously reported in LDS, and we outline the management of this unique disease combination. We also reflect on its presentation as TTS and infer that TTS and acute coronary syndromes are not mutually exclusive.