Background-Aortic intramural hematoma (IMH) is a variant of overt aortic dissection. The predictors of progression of IMH to dissection and rupture are still unknown, and strategies for management are not established. Methods and Results-A multicenter study was conducted comprising 66 patients with IMH and hospital admission Յ48 hours after onset of initial symptoms. Among these, progression to aortic dissection or rupture occurred in 30 (45%) and death occurred in 13 (20%) patients within 30 days. Late progression was noted in 14 (21%) and death in 11 (17%) patients, yielding a 1-, 2-, and 5-year survival of 76%, 73%, and 43%, respectively. In a set of 9 variables, multivariate analysis identified IMH location in the ascending aorta (type A; Pϭ0.02) and moderately ectatic aortic diameters (49Ϯ13 mm with progression versus 57Ϯ16 mm without progression; Pϭ0.03) as independent predictors of early progression. In type A IMH, early mortality was 8% with swift surgery versus 55% without surgery (Pϭ0.004). The risk of late progression of IMH was independently associated with age at index diagnosis (Pϭ0.01) and absence of -blocker therapy during follow-up (Pϭ0.03). Kaplan-Meier analysis confirmed improved 1-year survival of IMH with -blocker therapy (95% versus 67% without -blockers; Pϭ0.004). Conclusions-Regardless of aortic diameter, IMH of the ascending aorta (type A) is at high risk for early progression, and, thus, undelayed surgical repair should be performed. Moreover, oral -blocker therapy may improve long-term prognosis of IMH independent of anatomical location.
Mutations in the gene for fibrillin-1 (FBN1) cause Marfan syndrome, a dominantly inherited disorder of connective tissue that primarily involves the cardiovascular, ocular, and skeletal systems. There is a remarkable degree of variability both within and between families with Marfan syndrome, and FBN1 mutations have also been found in a range of other related connective tissue disorders collectively termed type-1 fibrillinopathies. FBN1 mutations have been found in almost all of the 65 exons of the FBN1 gene and for the most part have been unique to one affected patient or family. Aside from the "hot spots" for the neonatal Marfan syndrome in exons 24-27 and 31-32, genotype-phenotype correlations have been slow to emerge. Here we present the results of temperature-gradient gel electrophoresis analysis of FBN1 exons 59-65. Six mutations were identified, only one of which had been previously reported. Two of the six mutations were found in patients with mild phenotypes. Taken together with other published reports, our results suggest that a sizable subset (ca. 40%) of mutations in this region is associated with mild phenotypes characterized by the lack of significant aortic pathology, compared with about 7% in the rest of the gene. In two cases, mutations affecting analogous positions within one of the 43 cbEGF modules of FBN1 are associated with mild phenotypes when found in one of the 6 C-terminal modules (encoded by exons 59-63), but are associated with classic or severe phenotypes when found in cbEGF modules elsewhere in the gene.
A simple prediction model provides evidence for Marfan syndrome. This model can be used to identify patients who require definitive diagnostic work-up.
Aortic disease evolution relates to AIx@HR75 and CPP in Marfan like syndromes. Larger studies with comprehensive clinical and echocardiographic follow-up over long time intervals will be required to establish APT for prediction of aortic disease evolution in Marfan-like syndromes.
Congenital anomalies of the coronary arteries occur in 0.2-1.2% of the general population and may cause substantial cardiovascular morbidity and mortality. We review some of the advances that have been made both, in the understanding of the embryonic development of the coronary arteries (part I) and in the clinical diagnosis and management of their anomalies (part II). In this first part of our review we elucidate basic mechanisms of coronary vasculogenesis, angiogenesis and embryonic arteriogenesis. Moreover, we review the role of cellular progenitors such as epicardium-derived cells, cardiac neural crest cells and cells of the peripheral conduction system. Then we discuss the role of growths factors (such as FGV, HIF 1, PDGF B, TGFbeta1, VEGF, and VEGFR-2) and genes (such as FOG-2, VCAM-1, Bves, and RALDH2) at different states of coronary development. and we discuss the role of the cardiac neural crest in the concurrence of coronary anomalies with aortic root malformations. This part of the article is designed to review major determinants of coronary vascular development to provide a better understanding of the multiplicity of options and mechanisms that may give rise to coronary anomaly. To this end, we highlight results from experiments that provide insight in mechanisms of coronary malformation.
Congenital anomalies of the coronary arteries occur in 0.2-1.2% of the general population; they cause 12% of sports-related sudden cardiac deaths and 1.2% of non-sports-related deaths. We review some of the substantial advances that have been made both, in the understanding of the embryonic development of the coronary arteries and in the clinical diagnosis and management of their anomalies. In this second part of our review we elucidate recent approaches to defining coronary anomalies and provide information on their incidence and prognosis. In addition, we discuss the options for screening large populations for potentially lethal coronary malformations and elucidate the role of invasive diagnostic modalities such as intravascular ultrasound, flow wire and pressure wire. The clinical relevance of coronary anomalies is discussed particularly for the ill-defined group of anomalies that only occasionally cause severe clinical events comprising anomalous origination of a coronary artery from the opposite sinus (ACAOS), coronary artery fistulae and myocardial bridging. Finally, we provide an update on current diagnostic and therapeutic recommendations.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.