OVERLAPPING PHENOTYPES: A CASE REPORT OF LEFT VENTRICULAR NONCOMPACTION CONCEALED IN HYPERTROPHIC CARDIOMYOPATHY WITH PROGRESSING HEART FAILURE
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the American College of Cardiology"
DOI: 10.1016/s0735-1097(20)33529-4
Abstract: Left ventricular noncompaction(LVNC) has overlapping features with other cardiomyopathies. Precise diagnosis and treatment require a multimodality approach. Wide QRS tachycardia was presented in a 19-year-old male with syncope(Figure 1A-B). He had supraventricular tachycardia since 4… read more here.
Keywords: overlapping phenotypes; phenotypes case; ventricular noncompaction; left ventricular ... See more keywords
Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2021.736240
Abstract: Mutations in CYP24A1 (vitamin D 24-hydroxylase) and SLC34A1 (renal phosphate transporter NPT2a) cause autosomal recessive Infantile Hypercalcemia type 1 and 2, illustrating links between vitamin D and phosphate metabolism. Patients may present with hypercalciuria and… read more here.
Keywords: overlapping phenotypes; slc34a1; mutations cyp24a1; slc34a1 slc34a3 ... See more keywords