Spontaneous coronary artery dissection and its association with heritable connective tissue disorders

Objective: Spontaneous coronary artery dissection (SCAD) is an under-recognised but important cause of myocardial infarction and sudden cardiac death. We sought to determine the role of medical and molecular genetic screening for connective tissue disorders in patients with SCAD.Methods: We performed a single-centre retrospective descriptive analysis of patients with spontaneous coronary artery disease who had undergone medical genetics evaluation 1984-2014 (n=116). The presence or absence of traits suggestive of heritable connective tissue disease was extracted. Genetic testing for connective tissue disorders and/or aortopathies, if performed, is also reported.Results: Of the 116 patients (mean age 44.2 years, 94.8% women and 41.4% with non-coronary fibromuscular dysplasia (FMD)), 59 patients underwent genetic testing, of whom 3 (5.1%) received a diagnosis of connective tissue disorder: a 50-year-old man with Marfan syndrome; a 43-year-old woman with vascular Ehlers-Danlos syndrome and FMD; and a 45-year-old woman with vascular Ehlers-Danlos syndrome. An additional 12 patients (20.3%) had variants of unknown significance, none of which was thought to be a definite disease-causing mutation based on in silico analyses.Conclusions: Only a minority of patients with SCAD who undergo genetic evaluation have a likely pathogenic mutation identified on gene panel testing. Even fewer exhibit clinical features of connective tissue disorder. These findings underscore the need for further studies to elucidate the molecular mechanisms of SCAD

Underestimation of aortic stenosis severity by doppler mean gradient during atrial fibrillation : insights from aortic valve weight

Background: Doppler mean gradient (MG) can underestimate aortic stenosis (AS) severity when obtained during atrial fibrillation (AF) compared with sinus rhythm (SR). Aortic valve weight (AVW) is a flow-independent measure of AS severity. The objective of this study was to determine whether AVW or AVW/MG ratio was increased in AF versus SR in patients with AS. Methods: Excised native aortic valves from 495 consecutive patients (median age, 77 years; interquartile range [IQR], 71-82 years; 40% women), with left ventricular ejection fractions ≥50% who underwent surgical aortic valve replacement for native valve severe AS (aortic valve area ≤ 1 cm2 or indexed aortic valve area ≤ 0.6 cm2/m2) were weighed. Excised AVW/MG ratios were compared in AF versus SR in patients with high-gradient AS (aortic peak velocity ≥ 4 m/sec or MG ≥ 40 mm Hg) and low-gradient AS (aortic peak velocity < 4 m/sec and MG < 40 mm Hg) in sex-specific analyses. Results: AF was present in 51 patients (10%; 11 of 51 [22%] had low-gradient AS) and SR in 444 (90%; 23 of 444 [5%] had low-gradient AS). There was no difference in sex distribution between AF and SR. Aortic valve area was not different, but forward stroke volume index and transaortic valve flow rate were lower in AF (P ≤ .002 for all); MG was lower in AF versus SR (median, 46 mm Hg [IQR, 37-50 mm Hg] vs 50 mm Hg [IQR, 44-61 mm Hg]; P < .0001). Overall AVW was not different (median, 2,290 mg [IQR, 1,830-3,063 mg] vs 2,140 mg [IQR, 1,530-2,958 mg]; P = .31), but overall AVW/MG ratio was higher in AF (median, 55 [IQR, 41-67] vs 42 [IQR, 30-55]; P = .001). In sex- and MG-specific analyses, the AVW/MG ratio was higher in AF compared with SR in men with high-gradient AS (median, 58 [IQR, 41-75] vs 51 [IQR, 39-61]; P = .03), but the differences were not statistically significant between AF and SR in other groups. Conclusions: AVW was discordant to Doppler MG in AF compared with SR in men with high-gradient AS. Additional studies of the relationship of MG to other measures of AS severity, such as leaflet fibrosis, are needed

Caval Valve Implantation for Tricuspid Regurgitation: Insights From the United States Caval Valve Registry

BACKGROUND: We sought to describe the outcomes of patients who underwent caval valve implantation (CAVI) for treatment of severe tricuspid regurgitation (TR) in the United States. Previous studies on CAVI have used a variety of techniques and transcatheter valves. We present our findings from CAVI with inferior vena cava (IVC) implant only using a single valve. METHODS: Patients who were determined to be poor candidates for tricuspid valve surgery and underwent CAVI in the United States from March 1, 2013 through March 1, 2018 were included in this study. Data during hospitalizations and interim outpatient follow-up from each individual site were collected and entered into a central password-protected database. RESULTS: A total of 24 patients were treated. The median age was 79.5 years, 63% were women, and 96% were white. Twenty-three of 24 patients underwent valve implantation with a 29 mm Sapien 3 valve (Edwards Lifesciences). There was a 100% rate of successful valve implantation. There were no cases requiring emergency surgery. Thirty-day mortality rate was 25%. The median survival as of last follow-up of all patients was 350 days. Pre- and postprocedure New York Heart Association (NYHA) class data were available in 11 of 24 patients; of these 11 patients, 72.7% improved at least 1 NYHA class from baseline. CONCLUSION: CAVI may be performed safely in a high surgical risk population with severe tricuspid regurgitation. Dedicated studies with longer-term follow-up are needed