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.
Background Atresia of the inferior vena cava (IVC) is a congenital anomaly associated with partial or total absence and increases the risk of deep vein thrombosis (DVT) by op to 10 times due to venous stasis.1 Although it occurs in 5% of cases of DVT without risk factors favoring2, a prevalence of 1% of general population is estimated.3 Material and methods We present the cause of a 30-year-old patient, smoker, professional truck driver, who addresses the ED for pain, edema and functional impotence in the lower left limb. One month ago, the patient suffered a trauma to the limb, with a closed tibial fracture that required a plaster cast and then orthosis. After two weeks, he has edema in his lower limb, reason why he started antivitamin K (acenocoumarol) therapy. The paraclinical examinations performed revealed an overdose of oral anticoagulants with INR over the therapeutic limit, biological inflammatory syndrome, and vascular ultrasound revealed a deep venous thrombosis in the left ilio-femoral vessel. The investigations also revealed partial atresia of the IVC with collateral circulation and multiple supra- and infra-diaphragmatic shunts, and the iliac veins were drained by collaterals from the azygos / hemiazygos system. Results and conclusions Most patients with IVC atresia remain asymptomatic until the onset of a trigger factor (ex. immobilization of the lower limb) or until the third decade of life. The evolution of symptoms under treatment with parenteral anticoagulants (fondaparinux 7.5 mg) and then oral (apixaban 2×5 mg) was favorable with significant remission of edema.
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