Prevalence, Subtype Classification, and Outcomes of Treatment of Primary Aldosteronism: A Prospective Study in China.

Objective: To investigate the prevalence of primary aldosteronism (PA) among participants with hypertension, evaluate the concordance of PA classification between adrenal computed tomography and adrenal venous sampling, and compare the outcomes of surgery and medication for unilateral PA.

Methods: A prospective study was conducted among all inpatients with hypertension (n = 7594) at the National Center for Cardiovascular Diseases, China, from May 2016 to April 2018.

Results: Of the 7594 participants, 8.

A novel PROS1 mutation, c.74dupA, was identified in a protein S deficiency family.

Protein S is a vitamin K-dependent plasma glycoprotein that acts as an anticoagulant, and its deficiency usually predisposes individuals to venous thromboembolism. Hereditary protein S deficiency is an autosomal dominant disorder caused by a PROS1 mutation. Herein, we described a novel PROS1 frameshift mutation, c.

Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome.

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder typically involving the ocular, skeletal and cardiovascular systems, and aortic aneurysms/dissection mainly contributes to its mortality. Here, we performed genetic testing of the FBN1 gene in 39 Chinese probands with Marfan/Marfan-like syndrome and their related family members by Sanger sequencing. In total, 29 pathogenic/likely pathogenic FBN1 mutations, including 17 novel ones, were identified.