Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant.
Iram HussainRuilin Raelene JinHoward B A BaumJerry R GreenfieldSophie DeveryChao XingRobert A HegeleBarbara G Carranza-LeonMacrae F LintonFrank VuitchKathy H C WuDébora Rossi PreciosoJunko OshimaAnil K AgarwalAbhimanyu GargPublished in: Journal of the Endocrine Society (2020)
The heterozygous LMNA p.R349W variant in affected individuals has several distinct phenotypic features, and these patients should be classified as having multisystem progeroid syndrome (MSPS). MSPS patients should undergo careful assessment at symptom onset and yearly metabolic, renal, and cardiac evaluation because hyperglycemia, hypertriglyceridemia, FSGS, and cardiomyopathy cause major morbidity and mortality.