Aortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown-Rahman syndrome.

Tatton-Brown-Rahman syndrome (TBRS) is a rare congenital genetic disorder caused by autosomal dominant pathogenic variants in the DNA methyltransferase DNMT3A gene. Typical TBRS clinical features are overgrowth, intellectual disability, and minor facial anomalies. However, since the syndrome was first described in 2014, a widening spectrum of abnormalities is being described.

The Impact of COVID-19 Infection on Patients with Severe Chronic Pulmonary Hypertension: A Prospective Study from a Single Referral Center.

COVID-19 infection has a significant burden on global morbidity and mortality, especially in elderly people and in patients with chronic respiratory and cardiovascular diseases, such as pulmonary hypertension (PH). We aimed to evaluate the impact of COVID-19 infection on patients diagnosed with severe chronic PH. A single-center prospective cohort study was performed.

Rare c.302C>T Variant Associated with Transthyretin Amyloidosis.

Hereditary transthyretin amyloidosis (ATTRv) is a rare disease caused by pathogenic variants in the transthyretin () gene. More than 140 different disease-causing variants in have been reported. Only a few individuals with a rare variant, c.