Novel compound heterozygous TTN variants as a cause of severe neonatal congenital contracture syndrome without cardiac involvement diagnosed with rapid trio exome sequencing
Sign Up to like & getrecommendations! Published in 2021 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2021.05.004
Abstract: This report focuses on a case of severe congenital myopathy with arthrogryposis without cardiac involvement due to compound heterozygous variants in the TTN gene. The proband presented with severe axial hypotonia, arthrogryposis and severe respiratory… read more here.
Keywords: trio exome; exome sequencing; compound heterozygous; without cardiac ... See more keywords
Association of cardiac magnetic resonance‐detected myocardial abnormalities with disease characteristics and brain natriuretic peptide levels in systemic sclerosis without cardiac symptoms
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Rheumatic Diseases"
DOI: 10.1111/1756-185x.13540
Abstract: This study aimed to evaluate the association between myocardial abnormalities and left ventricular (LV) geometry as assessed using cardiac magnetic resonance imaging (CMRI) in systemic sclerosis (SSc) patients without cardiac symptoms. read more here.
Keywords: cardiac magnetic; systemic sclerosis; cardiac symptoms; magnetic resonance ... See more keywords
Cardiac Involvement in Recovered Patients From COVID-19: A Preliminary 6-Month Follow-Up Study
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Cardiovascular Medicine"
DOI: 10.3389/fcvm.2021.654405
Abstract: Background: Accumulating evidence has revealed that coronavirus disease 2019 (COVID-19) patients may be complicated with myocardial injury during hospitalization. However, data regarding persistent cardiac involvement in patients who recovered from COVID-19 are limited. Our goal… read more here.
Keywords: recovered patients; cardiac involvement; cardiac injury; without cardiac ... See more keywords