Background: Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are common heart muscle disorders that are caused by pathogenic variants in sarcomere protein genes. In this study, we describe a variant in the MHY7 gene, segregating in a family having three different phenotypes of cardiomyopathies. MYH7 encodes for the myosin heavy-chain β (MHC-β) isoform involved in cardiac muscle contractility. Method and results: We present the case of a family with four members diagnosed with HCM and four members with DCM. The proband is a 42-year-old man diagnosed with HCM. He has an extended family of eight siblings; two of them are diagnosed with HCM and are implantable cardioverter–defibrillator (ICD) carriers. One of the siblings died at the age of 23 after suffering a sudden cardiac arrest and DCM of unknown etiology which was diagnosed at autopsy. Another brother was diagnosed with DCM during a routine echocardiographic exam. Genetic testing was performed for the proband and two of his siblings and a niece of the proband, who suffered a cardiac arrest at the age of nine, all being MYH7 mutation positive. For all four of them, cardiac imaging was performed with different findings. They are ICD carriers as well. Conclusions: Our results reveal three variants in phenotypes of cardiomyopathies in a family with MYH7 mutation associated with high SCD risk and ICD needed for primary and secondary prevention.
Mechanical stress due to flexion-extension in the femoropopliteal space may cause stent failure via stent fracture and thrombosis. Wire-Interwoven self-expanding Nitinol Stents design partially mimics the reticular structure of native vessels, emphasizing radial strength, flexibility and kink resistance; these stent features can offer more chances for short and long term patency. We have evaluated 5 patients with peripheral artery disease with significant superficial femoral artery or proximal popliteal artery lesions. All patients underwent endovascular therapy with Wire-Interwoven self-expanding Nitinol Stents, with primary focus on stent patency at follow-up visits (1, 6, 12 months). The endovascular initial success was achieved in all 5 patients. Stent patency at 1-year follow-up was achieved in 3 patients (60%). 2 patients (40%) had stent thrombosis within 30 days after procedure secondary to arterial dissection at distal stent extremity and self-withdrawal dual antiplatelet therapy; subsequently target lesion revascularization with endovascular therapy and ilio-femoral bypass was performed.
Atherosclerosis is the main cause of lower extremity artery disease (LEAD) and coronary artery disease (CAD). These two arterial territories share the major cardiovascular risk factors: smoking, hypertension, dyslipidaemia and diabetes. Current guidelines draw attention to other possible risk factors: homocysteine level, inflammation markers (e.g. high-sensitive C reactive-protein (CRP), interleukin 6) and chronic kidney disease (CKD.) The objective of this study was to evaluate the cardiovascular risk factors strength association with LEAD and CAD on a study population of 203 patients. Our study concluded that smoking seems to be the most powerful risk factor for LEAD, especially for significant lesion in femoral arteries, while diabetes mellitus, hypertension and CKD were significantly associated with CAD. The highest chance of association with multivessel-CAD is for diabetes mellitus compared to hypertension and CKD respectively. Moreover, in diabetic patients the percent of multivessel-CAD was significantly higher than the percent of single-CAD and non-significant CAD.
Coronary artery disease (CAD) is an important determinant of long-term outcome in patients with lower extremity artery disease (LEAD). In this study we evaluated the CAD prevalence among LEAD patients and the association of LEAD lesions location with the CAD presence and severity. 203 patients with LEAD, referred for peripheral and simultaneous coronary angiography, were evaluated. LEAD and CAD were considered angiographically significant for stenosis higher than 50% of arterial lumen. More than two-thirds of LEAD patients had significant CAD, half of them having multi-vessel CAD and a quarter single CAD. Infrapoplitheal arterial lesions seemed to be the strongest predictor of CAD being associated with significant and multi-vessel CAD and also with the presence of left main (LM) lesions. Femoral artery lesions were highly associated with multi-vessel CAD, but there was no association with significant CAD and LM lesions. No association was found between iliac artery lesions and CAD.
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