Patent foramen ovale (PFO) is a relatively uncommon anatomical variant that predisposes patients to several complications, such as atrial septal aneurysm, thromboembolism, stroke, platypnea-orthodeoxia, and paradoxical embolism. Despite this, in rare cases, PFO can be a life-saving factor. We present a 72-year-old man with a PFO and fulfilled Virchov’s triad after being stationary, dehydrated, and suffering from chronic venous insufficiency. A subsequent transesophageal echocardiogram revealed a large thrombus (approx. 20 cm in length) dwelling in the PFO in between both atria. In this case, PFO effectively saved the patient from such complications as pulmonary embolism and paradoxical embolism.

Myasthenia gravis is an autoimmune disease that causes weakness in the skeletal muscles. It is considered to be a relatively rare disease. Most commonly the first symptoms are associated with ocular muscle weakness resulting in ptosis and/or diplopia that may be progressive during the periods of muscle exertion and resolve with rest. However, any skeletal muscle group may be affected leading to the variability of clinical symptoms and potential challenges in diagnostics. We present a case report of a 62-year-old male that initially presented with bulbar symptoms and unintentional weight loss, with atypical findings in electromyography study (the absence of decrement amplification in a combination of spontaneous muscular activity) – suggestive for amyotrophic lateral sclerosis (ALS) diagnosis. After a thorough investigation the diagnosis of ALS was not confirmed but myasthenia gravis was highly suspected and anti-MuSK antibodies came positive. The patient was prescribed Pyridostigmine, Prednisolone and underwent plasmapheresis procedure which led to significant relief of the symptoms.

Background:Ververi-Brady syndrome (VEBRAS) is an autosomal dominant condition associated with short stature, microcephaly, mild dysmorphic features, and learning disabilities. It was first described in 2018, and only 38 cases have been reported since then. All patients have mutation in the Glutamine-rich protein 1 (QRICH1) gene, yet clinical presentation has a broad spectrum and continues to expand. This report is of a mother and daughter pair with VEBRAS, associated with a new variant of the QRICH1 gene, NM_017730.3: c.337C>T; p.(Gln113*), and few previously undescribed phenotypic features. Case Reports:We present 2 new cases, a mother and daughter, with novel heterozygous nonsense variant NM_017730.3: c.337C>T; p.(Gln113*). The daughter was referred to a geneticist at the age of 17 years because of seizures, dysmorphic features, and magnetic resonance imaging suggestive of leukodystrophy. In addition to already described clinical features, she had diffuse infantile hemangiomatosis and occipital balding. She was accompanied by her mother, who shared similar phenotypic features, raising suspicion for a similar genetic condition. Unlike the daughter, the mother never had any significant health problems or concerns and described herself as perfectly healthy. Genetic testing was performed in both individuals, and a novel pathogenic QRICH1 variant was discovered. Conclusions:Considering the novelty of VEBRAS, every new clinical case contributes to the enlargement of the VEBRAS cohort, expanding the phenotypical and mutational spectrum, with potential improvement in the further care and observation of probands and their offspring. This report has highlighted the importance of clinical genetics in the identification of familial genetic disorders with complex phenotypes.