Bicuspid aortic valve (BAV) or bicuspid aortopathy is the most common congenital heart disease.It can be clinically silent and it is often identified as an incidental finding in otherwise healthy, asymptomatic patients. However, it can be dysfunctioning at birth, even requiring neonatal intervention, or, in time, lead to aortic stenosis, aortic insufficiency, and endocarditis, and also be associated with aortic aneurysm and aortic dissection. Given its prevalence and significant complications, it is estimated that BAV is responsible for more deaths and morbidity than the combined effects of all the other congenital heart defects. Pathology of BAV is still not well known and many questions are unresolved. In this manuscript we review some aspects on bicuspid aortopathy, a heterogeneous and frequent disease in which like some authors have previously described, complex gene environment are present. Further investigations and, what is more, multidisciplinary teams are needed to improve our knowledge on this really fascinating disease.
Left ventricle non-compaction cardiomyopathy (LVNC) has gained great interest in recent years, being one of the most controversial cardiomyopathies. There are several open debates, not only about its genetic heterogeneity, or about the possibility to be an acquired cardiomyopathy, but also about its possible overdiagnosis based on imaging techniques. In order to better understand this entity, we identified 38 LVNC patients diagnosed by cardiac MRI (CMRI) or anatomopathological study that could underwent NGS-sequencing and clinical study. Anatomopathological exam was performed in eight available LVNC hearts. The genetic yield was 34.2%. Patients with negative genetic testing had better left ventricular ejection fraction (LVEF) or it showed a tendency to improve in follow-up, and a possible trigger factor for LVNC was identified in 1/3 of them. Nonetheless, cerebrovascular accidents occurred in similar proportions in both groups. We conclude that in LVNC there seem to be different ways to achieve the same final phenotype. Genetic testing has a good genetic yield and provides valuable information. LVNC without an underlying genetic cause may have a better prognosis in terms of LVEF evolution. However, anticoagulation to prevent cerebrovascular accident (CVA) should be carefully evaluated in all patients. Larger series with pathologic examination are needed to help better understand this entity.
Background
Mechanical thrombectomy is the standard of care for acute ischemic stroke due to large-vessel occlusion; however, mechanical thrombectomy fails to achieve adequate recanalization in nearly one third of these cases. Rescue therapy using two stentrievers simultaneously yields good results in clots refractory to single stentriever treatment. We aimed to determine the safety and efficacy of first-line double stentriever thrombectomy for acute occlusion of the M1 segment of the middle cerebral artery and/or terminal internal carotid artery (TICA).
Methods
This single-center study prospectively enrolled consecutive patients with a single M1/TICA occlusion to undergo double stentriever thrombectomy between May and October 2020. Outcomes included successful recanalization (modified thrombolysis in cerebral infarction, TICI 2b/3), first-pass effect, procedure times, number of device passes, symptomatic intracerebral hemorrhage, National Institutes of Health Stroke Scale Score (NIHSS) at discharge, 90-day functional independence (modified Rankin scale 0–2), and 90-day mortality.
Results
We analyzed 39 patients median age 79 years (range 42–96 years); 23 (58.9%) female; 19 (48.7%) with TICA occlusions; 5 (12.8%) with mRS 3–5 at admission; mean NIHSS at admission, 17 ± 4.39). Mean time from symptom onset to final angiogram was 238.0 ± 94.6 min; mean intervention duration was 36.0 ± 24.2 min. The mean number of device passes was 1.5 ± 1.07. All patients had final TICI 2b/3, and 27 (69%) had TICI 2c/3 after the first pass. We observed 3 (7.9%) cases of intracerebral symptomatic hemorrhages. At 90 days, 16 (41%) patients were functionally independent and 9 (23%) had died. The percentage of patients with good clinical outcome at 90 days was 55.5% in the first-pass subgroup.
Conclusion
Our findings suggest that first-line double stentriever thrombectomy is safe and effective for M1/TICA occlusions.
In recent years, the phenomenon of subclinical leaflet thrombosis (SLT) in patients who have undergone transcatheter aortic valve implantation has become increasingly relevant. Hypo-attenuating leaflet thickening and hypo-attenuation affecting motion diagnosed by CT are the hallmarks of SLT, and their incidence varies depending on the intensity of screening. Whether these phenomena are a surrogate for leaflet thrombosis reducing valve durability and increasing the risk of stroke is still a matter of debate. Uncertainty remains over the optimal antithrombotic therapy after TAVI and the best treatment strategy is still not confirmed. Ongoing and future trials will provide more evidence about the best strategy for the prevention and treatment of SLT.
From its initial description to the present day, left ventricular noncompaction cardiomyopathy has been the subject of numerous studies and publications. In question as a real cardiomyopathy, left ventricular noncompaction can appear in isolation or in association with other cardiac malformations, genetic syndromes, and neuromuscular disorders. As a genetically heterogeneous disorder, it can be sporadic or familial, with an autosomal dominant pattern with variable penetrance most frequently observed. Different diagnostic criteria have been described through the years, first by using echocardiogram and later on by cardiac magnetic resonance. The lack of universally accepted diagnostic criteria has led to the condition being over-diagnosed in the general population. Differential diagnosis between real cardiomyopathy, epiphenomenon (phenocopy in the setting of loading conditions or even other cardiomyopathies), and physiological hypertrabeculation, like in the athlete's heart must be considered. Clinically it can present as heart failure, ventricular arrhythmias, and even sudden death, but it can also be asymptomatic during familial screening. The main prognosis factors are left ventricular dilatation, dysfunction, and fibrosis. There is no specific treatment. Familial screening is recommended and special recommendations in the case of athletes must be taken into account. In the present article, we review the myth and reality concerning main and more recent aspects of left ventricular noncompaction.
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