Dilated cardiomyopathy (DCM) refers to a spectrum of heterogeneous myocardial disorders characterized by ventricular dilation and depressed myocardial performance in the absence of hypertension, valvular, congenital, or ischemic heart disease. Mutations in LMNA gene, encoding for lamin A/C, account for 10% of familial DCM. LMNA-related cardiomyopathies are characterized by heterogeneous clinical manifestations that vary from a predominantly structural heart disease, mainly mild-to-moderate left ventricular (LV) dilatation associated or not with conduction system abnormalities, to highly pro-arrhythmic profiles where sudden cardiac death (SCD) occurs as the first manifestation of disease in an apparently normal heart. In the present study, we select, among 77 DCM families referred to our center for genetic counselling and molecular screening, 15 patient heterozygotes for LMNA variants. Segregation analysis in the relatives evidences other eight heterozygous patients. A genotype–phenotype correlation has been performed for symptomatic subjects. Lastly, we perform in vitro functional characterization of two novel LMNA variants using dermal fibroblasts obtained from three heterozygous patients, evidencing significant differences in terms of lamin expression and nuclear morphology. Due to the high risk of SCD that characterizes patients with lamin A/C cardiomyopathy, genetic testing for LMNA gene variants is highly recommended when there is suspicion of laminopathy.

Article: Acute myocardial infarction in a patient with MELAS syndrome: a possible link? - Minerva Cardiology and Angiology 2022 Jun 29 - Minerva Medica - Journals

Background: Caseous mitral annular calcification (CMAC) is a rare variant of mitral annular calcification. Symptoms can be related to mitral valvular dysfunction, arterial embolization, and transient aortic outflow tract obstruction. CMAC usually affects the posterior fibrous mitral annulus and is commonly diagnosed in elderly patients with a history of hypertension, dyslipidaemia, and renal failure.Case summary: A 68-year-old patient was transferred to our department for late presenting acute myocardial infarction and acute heart failure. Coronary angiography revealed a significant extrinsic compression of the circumflex artery. Transthoracic echocardiography revealed an ovoid calcified mass of 3.6 cm × 2 cm originating from the posterior mitral annulus causing moderate mitral stenosis as well as akinesia of the inferolateral wall, reduced left ventricle ejection fraction (35%), and a low-flow low-gradient severe aortic stenosis. Cardiac computed tomography scan confirmed the presence of a large calcified mass, inserted to the posterior mitral annulus evocating caseous necrosis. The patient underwent a double valve replacement with implantation of both aortic and mitral bioprostheses. Histopathology of the excised mass revealed a chronic mitral valve fibrocalcification with aseptic necrosis, consistent with a caseous calcification of the posterior mitral annulus.Discussion: Extrinsic coronary artery compression is a rare disease entity. We report a rather peculiar cause of extrinsic artery compression: CMAC inducing significant mitral stenosis and compressing the circumflex artery leading to myocardial infarction. To the best of our knowledge, this is the first case of extrinsic artery compression caused by CMAC.

Article: Spontaneous coronary artery dissection: review, case report and analysis of COVID-19-related cases - Minerva Cardiology and Angiology 2023 Feb 27 - Minerva Medica - Journals

Article: Pacemaker dependency and conduction system recovery following transcatheter aortic valve implantation - Minerva Cardiology and Angiology 2023 Nov 16 - Minerva Medica - Journals