Cardiovascular pathology, inheritance and prognosis in a familial cohort of Loeys-Dietz type III.

INTRODUCTION: Loeys-Dietz syndrome (LDS) is a heritable disease that is the result of dysregulation of the transforming growth factor beta (TGFß) pathway. The pathogenic variants associated with the condition are linked to aortic aneurysms and dissections along with other cardiovascular and non-cardiovascular abnormalities. LDS type III is associated with pathogenic variants in the SMAD3 gene responsible for signally in the TGFß pathway. Most of the current knowledge of LDS stems from studies of LDS I and II patient with limited data on large cohorts of LDS III patients. We sought to identify the prevalence and course of cardiovascular diseases in a large familial cohort of LDS III patients and also to compare these findings with a previously described cohort of similar size with the identical pathogenic variant. METHODS: The cohort was identified by systematic genetic screening of a familial cohort identified through a single proband. Data was collected from retrospective chart review of patients identified to be affected by the syndrome. RESULTS: Screening of 97 patients identified 19 patients (16 through genetic testing and 3 through phenotypic screening of untested direct descendants of genetically positive individuals). The prevalence of cardiovascular abnormalities was 84%. There was significant intrafamilial phenotypic variability within the cohort with the predominant cardiovascular abnormality being mitral valve disease followed by aortic disease. 92% of patients >18 years of age had osteoarthritis which is a further hallmark of LDS III. CONCLUSION: LDS III sets itself apart from the more widely studied LDS types I and II cardiovascular phenotypes by presenting later in life and tending to be more strongly associated with mitral valve disease.

A Case of Electrical Right-Ventricular Infarction in the Absence of Clinical Right-Ventricular Failure.

In the setting of acute coronary syndrome, right-ventricular (RV) infarction, which has significant clinical implications, can occur in conjunction with inferior left-ventricular (LV) infarction. In rare cases, RV infarction is isolated. We describe a case of isolated RV infarction identified based on previously described electrocardiogram findings in the absence of hemodynamic or imaging evidence of RV dysfunction. This case highlights the fact that RV transmural ischemia can exist in the absence of the clinical syndrome associated with RV infarction, which we hypothesize is related to the proportion of RV myocardium involved in the infarct, or conversely, the amount of myocardium protected through various mechanisms.

Dans le cadre du syndrome coronarien aigu, l'infarctus du ventricule droit, qui a des répercussions cliniques importantes, peut survenir conjointement avec un infarctus inférieur du ventricule gauche. Dans de rares cas, l'infarctus du ventricule droit est isolé. Nous décrivons un cas d'infarctus du ventricule droit isolé décelé à l'aide des résultats précédemment décrits d'un électrocardiogramme faute de résultats hémodynamiques ou d'imagerie indiquant une dysfonction ventriculaire droite. Ce cas souligne le fait qu'une ischémie transmurale du ventricule droit peut survenir même sans syndrome clinique associé à l'infarctus du ventricule droit, ce qui s'explique, selon notre hypothèse, par la proportion de myocarde ventriculaire droit touché par l'infarctus ou, à l'inverse, la quantité de myocarde protégé par divers mécanismes.

Transcatheter Aortic Valve Implantation in a Failed Perceval Sutureless Valve, Complicated by Aortic Annular Rupture.

As the use of surgically implanted sutureless aortic valves has increased over the past decade, we expect to encounter their failure increasingly in coming years. We describe a case of Perceval aortic valve failure with stent infolding and severe stenosis. This condition was treated with valve-in-valve transcatheter aortic valve implantation and complicated by aortic annular rupture at the site of infolding. This case is important because it outlines the limited experience with valve-in-valve transcatheter aortic valve implantation to treat failed sutureless valves and identifies sutureless valve infolding as a potential risk for annular rupture.

Puisque l'implantation valvulaire aortique sans suture s'est accrue au cours de la dernière décennie, nous nous attendons à rencontrer de plus en plus de défaillances de valves dans les années à venir. Nous décrivons un cas de défaillance de la valve aortique Perceval avec pliage de l'endoprothèse et sténose grave. Le traitement qui consistait en l'implantation valvulaire aortique de type valve-in-valve par cathéter a été compliqué par la rupture de l'anneau aortique au site du pliage. Il s'agit d'un cas important puisqu'il décrit le peu d'expérience en matière d'implantation valvulaire aortique de type valve-in-valve par cathéter dans le traitement des valves sans suture défectueuses et établit que le pliage d'une valve sans suture expose à un risque de rupture de l'anneau.