ABSTRACT
Goldenhar syndrome, also recognised as oculo-auriculo-vertebral spectrum, is a very rare condition distinguished by a diverse array of clinical abnormalities affecting the ocular, auditory, vertebral and various organ systems. The pathophysiology of this condition is not fully elucidated due to its inherent genetic variability and rarity. In this report, we present a case of Goldenhar syndrome in a toddler boy, aiming to enhance the existing body of literature on this condition.
Subject(s)
Goldenhar Syndrome , Humans , Goldenhar Syndrome/diagnosis , Male , Child, PreschoolABSTRACT
Heart failure characterized by preserved ejection fraction (HFpEF) poses a substantial challenge to healthcare systems worldwide and the diagnostic algorithms used currently mirror those utilized for reduced Ejection Fraction (HFrEF). This literature review aims to explore the diagnostic and prognostic credibility of numerous emerging biomarkers associated with HFpEF. We conducted a thorough analysis of the available medical literature and selected the biomarkers which yielded the maximum amount of published information. After reviewing the current literature we conclude that there are no biomarkers at present which are superior to natriuretic peptides in terms of diagnosis and prognosis of HFpEF. However biomarkers like Suppression of tumorigenicity2, Galectin3 and microRNAs are promising and can be researched further for future use. Although newer individual biomarkers may not be useful in diagnosing and prognosis of HFpEF, we believe that a specific biomarker profile may be identified in each phenotype,which can be used in future.
