A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis.

The etiology of nonimmune hydrops fetalis is extensive and includes genetic disorders. We describe a term-born female neonate with late onset extensive nonimmune hydrops, that is, polyhydramnios, edema, and congenital bilateral chylothorax. This newborn was successfully treated with repetitive thoracocentesis, total parenteral feeding, octreotide intravenously and finally surgical pleurodesis and corticosteroids. A genetic cause seemed plausible as the maternal history revealed a fatal nonimmune hydrops fetalis. A homozygous truncating variant in GDF2 (c.451C>T, p.(Arg151*)) was detected with exome sequencing. Genetic analysis of tissue obtained from the deceased fetal sibling revealed the same homozygous variant. The parents and two healthy siblings were heterozygous for the GDF2 variant. Skin and lung biopsies in the index patient, as well as the revised lung biopsy of the deceased fetal sibling, showed lymphatic dysplasia and lymphangiectasia. To the best of our knowledge, this is the first report of an association between a homozygous variant in GDF2 with lymphatic dysplasia, hydrothorax and nonimmune hydrops fetalis.

Imaging infective endocarditis: Adherence to a diagnostic flowchart and direct comparison of imaging techniques.

BACKGROUND: Multimodality imaging is recommended to diagnose infective endocarditis. Value of additional imaging to echocardiography in patients selected by a previously proposed flowchart has not been evaluated. METHODS: An observational single-center study was performed. Adult patients suspected of endocarditis/device infection were prospectively and consecutively enrolled from March 2016 to August 2017. Adherence to a diagnostic imaging-in-endocarditis-flowchart was evaluated in 176 patients. Imaging techniques were compared head-to-head in 46 patients receiving echocardiography (transthoracic plus transesophageal), multi-detector computed tomography angiography (MDCTA), and 18F-fluorodeoxyglucose positron emission tomography (FDG-PET/CT). RESULTS: 69% of patients (121/176) adhered to the flowchart. Sensitivity of echocardiography, MDCTA, FDG-PET/CT in patients without prosthesis was 71%, 57%, 29% (86% when combined), while specificity was 100%, 75%, 100%, respectively. Sensitivity in patients with prosthesis was 75%, 75%, 83%, respectively (100% when combined), while specificity was 86% for all three modalities. Echocardiography performed best in the assessment of vegetations, morphological valve abnormalities/dehiscence, septum defects, and fistula formation. MDCTA performed best in the assessment of abscesses and ventricular assist device infection. FDG-PET/CT performed best in the assessment of cardiac device infection, extracardiac infectious foci, and alternative diagnoses. CONCLUSIONS: This study demonstrates that the evaluated imaging-in-endocarditis-flowchart is applicable in daily clinical practice. Echocardiography, MDCTA, and FDG-PET/CT provide relevant complementary diagnostic information, particularly in patients with intracardiac prosthetic material.