Impact of Pulmonary Hypertension Hemodynamic Phenotype on Incident Atrial Fibrillation.

Introduction: Atrial fibrillation/flutter (AF) is common among patients with pulmonary hypertension (PH) and is associated with poor clinical outcomes. AF has been shown to occur more commonly among patients with postcapillary PH, although AF also occurs among patients with precapillary PH. The goal of this study was to evaluate the independent impact of PH hemodynamic phenotype on incident AF among patients with PH.

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds.

Background: Skeletal dysplasia is a heterogeneous group of disorders. Spondyloepiphyseal dysplasias comprise one subgroup. Deficiency of carbohydrate sulfotransferase 3 has been reported in a small number of patients with recessively inherited spondyloepiphyseal dysplasia with joint dislocation, short stature and scoliosis.

Slip-Ups in the Diagnosis of Cardiac Amyloidosis: A Case Fatality in Point.

This case report illustrates a tragic example of a "missed diagnosis" of amyloid light-chain (AL) amyloidosis with cardiac involvement that led to progressive heart failure and the ultimate death of the patient. It had a rather atypical presentation in terms of cardiac imaging, although there were certain highly suspicious clinical features, cardiac and otherwise. It also illustrates the importance of selecting the most appropriate assays to establish (or rule out) the presence of monoclonal immunoglobulin consistent with AL amyloidosis, which has a poor clinical prognosis, as unfortunately demonstrated in this case.