Heart Failure A Debilitating Syndrome That Has Video
Clinical Trial Research on Heart Disease Heart Failure A Debilitating Syndrome That HasAn otherwise healthy month-old boy was admitted to the hospital with swelling in his feet and difficulty breathing related to upper respiratory infection symptoms. Physical examination revealed full-appearing cheeks, small stature, and extremity hypotonia, as well as an inability to crawl or walk independently. He was found to be neutropenic with an absolute neutrophil count of This constellation of signs initiated further testing, including radiography; urine sampling, which revealed elevated 3-methylglutaconic acid, and a genetics evaluation. Genetic testing revealed a likely pathogenic variant identified in the TAZ gene.
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Serum testing showed elevated 3-methylglutaconic acid and pyruvate. The patient was managed with treatment of CHF and hypertension. At 2 years of age the patient was noted to have short stature, Of note, he was also found to have a preference for spicy foods, which has been described in this disorder. As noted above, echocardiography was consistent with a dilated cardiomyopathy. A portable chest radiograph Figure 1 also demonstrated dilated cardiomyopathy, central vascular congestion, moderate interstitial edema with prominent Kerley B lines, consistent with congestive heart failure. Follow up chest radiograph Figure 2 9 months after therapy initiation showed resolution of cardiomyopathy and no residual findings of congestive heart failure.
Barth syndrome. Differential diagnoses include congenital heart disease, viral pneumonia, and Duchenne muscular dystrophy. Tafazzin functions to regulate remodeling of cardiolipin, https://amazonia.fiocruz.br/scdp/essay/benedick-and-beatrice-argument-quotes/great-art-will-be-a-transparent-reflection.php plays a role in cardiac function and mitochondrial ATP production; mutations in TAZ result in disorders in cardiolipin biosynthesis. Fewer than cases of BTHS have been described. In addition, most patients present with neutropenia, which can be persistently low, intermittently normal to low, or cyclic. The long-term prognosis for Barth syndrome is variable. Infants have been reported to present with life-threatening sepsis as a result of neutropenia. Conversely, some males with the disorder may not present clinically until later in life.
Williams syndrome
A multidisciplinary approach, including genetics counseling and involvement with cardiology, infectious disease, and gastroenterology specialists is required for management of symptoms. Though cases are sparse, patients are reported to have a reduced life expectancy and may succumb to heart failure in infancy.
In some reported cases, the cardiomyopathy improves or resolves over time.]
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