elastin and Coronary-Stenosis

Supravalvar aortic stenosis (SVAS) is a congenital anomaly characterized by a discrete or diffuse narrowing of the ascending aorta. It may also be associated with right-ventricular outflow tract obstruction, aortic valve pathology and coronary ostial stenosis. While present in both familial and sporadic forms, it demonstrates a strong association with William-Beuren syndrome, both being anomalies associated with defects in the elastin gene. In this article, the authors have discussed the etiology, morphology, clinical presentation and genetic basis of SVAS. Various surgical approaches, both conventional and recent, have been discussed and demonstrated with the aid of diagrams. Single-, two- and three-sinus methods have been presented, along with a comparative analysis of early results, associated procedures, late mortality and reoperation. In conclusion, the authors have described their institutional experience of more than 40 years in the surgical management of SVAS.

Topics: Animals; Aortic Stenosis, Supravalvular; Aortic Valve; Coronary Stenosis; Elastin; Humans; Reoperation; Ventricular Outflow Obstruction; Williams Syndrome

Supravalvar aortic stenosis (SVAS) is a rare anomaly of the aortic root caused by a genetically based deficiency in elastin production. Concomitant primary and secondary cardiovascular lesions complicate surgical management and impact early and late outcomes. Because SVAS is a rare lesion, surgical series are relatively small and span lengthy time periods. Consequently, risk factors that influence early and late outcomes are not well defined. Patients who come to surgery during infancy are particularly challenging, but little attention has been directed as to whether or not young age influences outcomes. This review suggests that complicating associated features of elastin arteriopathy are more prevalent in patients who require relief of SVAS during infancy, and that concomitant lesions significantly increase the difficulty and risk of treating younger patients with SVAS.

Topics: Angiography; Aortic Stenosis, Supravalvular; Cardiac Surgical Procedures; Coronary Stenosis; Elastin; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Male; Postoperative Complications; Rare Diseases; Risk Assessment; Severity of Illness Index; Survival Rate; Treatment Outcome

Cutis laxa (CL) is a rare, inherited or acquired connective tissue disorder characterized by abnormal elastic fibers causing loose and redundant skin and a prematurely aged appearance. The syndrome has been associated with hypertension, but cases with early-onset ischemic heart disease have never been described. Here, we report a 21-year-old Danish female with activity-related shortness of breath and oedema of the lower extremities. The patient had a clinical diagnosis of autosomal dominant CL, but no genotyping had been performed prior to the index admission. The patient was diagnosed with ischemic heart disease, based on results of non-invasive cardiovascular imaging (including MRI and PET-CT) followed by invasive treatment of a critical left main coronary artery stenosis. Subsequent referral to genetic testing revealed a likely pathogenic intronic variant in ELN. This case report includes the clinical findings and relates these to known molecular mechanisms of CL.

Topics: Coronary Stenosis; Cutis Laxa; Elastin; Female; Humans; Introns; Mutation; Pedigree; Young Adult

Topics: Constriction, Pathologic; Coronary Stenosis; Elastin; Humans; Williams Syndrome

Topics: Coronary Stenosis; Elastin; Humans; Infant; Multidetector Computed Tomography; Mutation

Topics: Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 7; Coronary Stenosis; Coronary Vessels; Elastin; Humans; Male; Ultrasonography; Williams Syndrome