Case report of Loeys-Dietz syndrome presenting with coronary artery aneurysm.

Background: Loeys-Dietz syndrome (LDS) is a heritable disorder that presents with thoracic aortic aneurysm and/or dissection caused by a mutation in one of the transforming growth factor-B receptor or ligand genes. It is associated with widespread familial arterial aneurysm and rupture. Case summary: We present a case of a 70-year-old male with a family history of heritable thoracic aortic aneurysm disease who presented to the emergency department with chest pain. His presenting electrocardiogram was significant for ST elevation in the inferior leads with complete heart block. Computed tomography-angiography was done to rule out aortic dissection, which was negative for aortic dissection but did reveal 3.9 cm infrarenal abdominal aortic aneurysm and 2.7 cm bilateral iliac artery aneurysms. He was then taken for invasive angiography and was found to have aneurysmal dilation of the entire right coronary artery measuring up to 6 mm with 100% occlusion secondary to thrombus in the distal segment. He was found to have obstructive disease in the left anterior descending artery and first and second obtuse marginals (OMs). Genetic testing performed confirmed a pathogenic mutation in the TGFBRI gene (TGFBRI c.934G > A p.Gly312Ser) consistent with the diagnosis of LDS. Discussion: Although LDS is known to cause arterial aneurysms throughout the arterial tree, there have been no other cases of primary coronary aneurysms reported in this patient population. This case represents the first description of a patient with genetically confirmed LDS presenting with coronary artery aneurysm.

Prevalence of Post-Heart Transplant Malignancies: A Systematic Review and Meta-Analysis.

The prevalence of different cancers after heart transplant (HT) is unclear due to small and conflicting prior studies. Herein, we report a systematic review and meta-analysis to highlight the prevalence and pattern of malignancies post-HT. We conducted an extensive literature search on PubMed, Scopus, Cochrane databases for prospective or retrospective studies reporting malignancies after HT. The proportions from each study were subjected to random effects model that yielded the pooled estimate with 95% confidence intervals (CI). Fifty-five studies comprising 60,684 HT recipients reported 7759 total cancers during a mean follow-up of 9.8 ± 5.9 years, with an overall incidence of 15.3% (95% CI = 12.7%-18.1%). Mean time from HT to cancer diagnosis was 5.1 ± 4 years. The most frequent cancers were gastrointestinal (7.6%), skin (5.7%), and hematologic/blood (2.5%). Meta-regression showed no association between incidence of cancer and mean age at HT (coeff: -0.008; P = 0.25), percentage of male recipients (coeff: -0.001; P = 0.81), donor age (coeff: -0.011; P = 0.44), 5-year (coeff: 0.003; P = 0.12) and 10-year (coeff: 0.02; P = 0.68) post-transplant survival. There is a substantial risk of malignancies in HT recipients, most marked for gastrointestinal, skin, and hematologic. Despite their occurrence, survival is not significantly impacted.

Cholesterol Embolization Syndrome From Penetrating Aortic Ulcer.

Penetrating aortic ulcer (PAU) is an important, albeit, rarer cause of embolization to internal organs and distal extremities. Embolization occurs as a result of the disruption of cholesterol deposition in the wall of the aorta by a PAU. The classic presentation of cholesterol embolization syndrome (CES) includes pain, pallor, poikilothermia, paresthesia, and paralysis with intact pulses. The patient will classically have livedo reticularis or "blue toes." We present a case of a patient who presented to the emergency department with the complaint of a painful, blue toe. The patient had intact distal pulses on exam with the distal 2/3 of the first toe having a markedly blue/black color with livedo reticularis spreading proximally on the other 1/3 of the toe. CT angiogram with runoff to the lower extremities revealed a 3.6-cm infrarenal abdominal aortic aneurysm with a 5-mm penetrating aortic ulcer with a three-vessel runoff to the distal lower extremities. The diagnosis of CES secondary to a PAU was made. While thrombotic embolization from PAU causing acute limb ischemia is less common, it is well described. In contrast, cholesterol embolization from PAU remains a rare phenomenon without adequate treatment options.