ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia
ConclusionWe provide evidence of ENG mutational mosaicism in an individual presenting with clinical HHT. These findings illustrate the importance of considering mutational mosaicism. Almost all cases of HHT have a family history. Very few cases are de novo or mosaicism. However, we provide evidence of ENG mutational mosaicism in an individual presenting with clinical HHT.
Systemic bevacizumab is a novel targeted anti-angiogenic therapy for high-output cardiac failure (HOCF) in hereditary hemorrhagic telangiectasia (HHT) but published data is limited. This survey-based study mea...
CONCLUSION: To our knowledge, this is the first case of immunodeficiency disorder diagnosed after the identification of evanescent antibody reactions. This case also outlines the importance of a good clinical history that should lead to further investigations when a hemolytic transfusion reaction is suspected. PMID: 31710384 [PubMed - as supplied by publisher]
A 26-year-old African-American woman, United States Marine stationed in Japan, was referred for evaluation of failure to gain weight. She reported no complaints and was able to successfully complete military physical fitness requirements without difficulty. Review of systems was notable for spontaneous bilateral epistaxis averaging once monthly, without hematuria. She denied shortness of breath or chest pain. Family history did reveal epistaxis in her mother. Exam was notable for a thin, slender body habitus, BMI 17.5, and room air pulse oximetry of 92%.
Purpose of review To provide an update of vascular malformation syndromes by reviewing the most recent articles on the topic and following the new International Society for the Study of Vascular Anomalies (ISSVA) 2018 classification. Recent findings This review discusses the main features and diagnostic approaches of the vascular malformation syndromes, the new genetic findings and the new therapeutic strategies developed in recent months. Summary Some vascular malformations can be associated with other anomalies, such as tissue overgrowth. PIK3CA-related overgrowth spectrum (PROS) is a group of rare genetic disord...
PMID: 31698927 [PubMed - as supplied by publisher]
CONCLUSIONS: The role of plasma VEGF as a potential predictive biomarker for therapeutic response to bevacizumab treatment warrants further investigation in larger prospective studies. PMID: 31681913 [PubMed - as supplied by publisher]
Conditions: Hereditary Hemorrhagic Telangiectasia; HHT; Brain Arteriovenous Malformation (BAVM) Intervention: Other: Registry and Saliva sample Sponsors: St. Michael's Hospital, Toronto; HHT Foundation International; Dartmouth College Recruiting
We present a 10 year old boy with syncope who was found to have long-QT syndrome and severe pulmonary hypertension (PH) both in the absence of a secondary cause, to our knowledge this is the first report with this unusual coexistence. His genetic tests were positive for hereditary hemorrhagic telangiectasia and long QT syndrome (LQTS) without any family history of PH or LQTS. We demonstrated that digital subtraction pulmonary angiography was more useful compared to CT angiogram to demonstrate pulmonary vascular changes which correlated with a no-response to acute vasoreactivity testing during right heart catheterization. H...
Condition: Hereditary Hemorrhagic Telangiectasia Interventions: Drug: Timolol Gel; Drug: Placebo Gel Sponsors: Washington University School of Medicine; Institute of Clinical and Translational Sciences (ICTS) Recruiting