Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2059
Abstract: Kearns‐Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder characterized by onset before 20 years of age and a typical clinical triad: progressive external ophthalmoplegia, pigmentary retinopathy and cardiac conduction anomalies. In most cases KSS is… read more here.
Keywords: sayre syndrome; mtdna deletion; kearns sayre; mtdna ... See more keywords
Mitochondrial Disorder: Kearns-Sayre Syndrome.
Sign Up to like & getrecommendations! Published in 2018 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-319-95046-4_30
Abstract: Mitochondrial diseases are multisystem disorders: anemia, myopathy, lactic acidosis, CNS abnormality, endocrine abnormalities, renal disease, sensorineural deafness, and retinal involvement. The clinical abnormalities are heterogeneous, and they usually begin in childhood. Premature death occurs because… read more here.
Keywords: sayre syndrome; disorder kearns; kearns sayre; biology ... See more keywords
The necessity of implantable cardioverter defibrillators in patients with Kearns-Sayre syndrome - systematic review of the articles.
Sign Up to like & getrecommendations! Published in 2019 at "International journal of cardiology"
DOI: 10.1016/j.ijcard.2018.12.064
Abstract: The most common cardiac feature of Kearns-Sayre syndrome (KSS) is atrioventricular block (AVB), and pacemaker implantations (PMIs) are recommended for KSS patients with advanced AVB. However, some KSS patients develop fatal arrhythmias such as polymorphic… read more here.
Keywords: sayre syndrome; kss patients; kss; kearns sayre ... See more keywords
Prophylactic pacemaker placement at first signs of conduction disease in Kearns–Sayre syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Cardiology in the Young"
DOI: 10.1017/s1047951118001609
Abstract: Abstract Cardiac conduction disease affects patients with Kearns–Sayre syndrome. We report a young asymptomatic patient with Kearns–Sayre syndrome with abnormal conduction on electrocardiogram and Holter monitor, although not advanced atrioventricular block. She underwent prophylactic pacemaker… read more here.
Keywords: prophylactic pacemaker; sayre syndrome; kearns sayre; conduction disease ... See more keywords
Cardiac disease in Kearns-Sayre syndrome requires comprehensive management
Sign Up to like & getrecommendations! Published in 2019 at "Cardiology in the Young"
DOI: 10.1017/s1047951119001562
Abstract: With interest we read the article by Trivedi et al about a 7-year-old female with multi-system Kearns-Sayre syndrome manifesting as developmental delay, hypotonia, failure to thrive, hypoparathyroidism with consecutive hypocalcemia, ptosis, and cardiac conduction defect.1… read more here.
Keywords: kearns sayre; block; cardiac disease; disease kearns ... See more keywords
The tRNA(Ile) variant m.4309G>A may not cause Kearns Sayre syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "Transplantation"
DOI: 10.1097/tp.0000000000002952
Abstract: W interest, we read the article by Di Nora et al about a 16-year-old male with Kearns-Sayre syndrome (KSS) who underwent heart transplantation (HTX) because of intractable dilated cardiomyopathy. The patient manifested with the 3… read more here.
Keywords: patient; pathogenicity; heart; kearns sayre ... See more keywords
Macular findings in Spectral Domain Optical Coherence Tomography and OCT Angiography in a patient with Kearns–Sayre syndrome
Sign Up to like & getrecommendations! Published in 2017 at "International Journal of Retina and Vitreous"
DOI: 10.1186/s40942-017-0077-8
Abstract: BackgroundTo report the clinical, electrophysiological and the anatomical findings in a patient with Kearns–Sayre syndrome (KSS).Case PresentationWe present the case of a 55-year-old female with KSS, who developed systemic features and ocular manifestations as ophthalmoplegia… read more here.
Keywords: domain optical; patient kearns; sayre syndrome; spectral domain ... See more keywords