2019 April - 7 articles
Management of symptoms in patients with inoperable aortic stenosis is often hard in clinical practice. We report a case of a patient with Hutchinson-Gilford progeria syndrome and end-stage aortic stenosis, considered not suitable for surgical or perc...
The majority of familial noncompaction cardiomyopathy (NCCM) is explained by pathogenic variants in the same sarcomeric genes that are associated with hypertrophic (HCM) and dilated (DCM) cardiomyopathy. Pathogenic variants in the filamin C gene (FLN...
Kearns-Sayre syndrome (KSS) is a rare mitochondrial disease in which cardiac involvement has been associated with poor prognosis. Although the most common clinical manifestation is progressive conduction system impairment, patients can suffer from ve...
Carcinoid syndrome is a paraneoplastic condition, which usually affects the lungs or gastrointestinal tract but uncommonly cardiac valves can be involved, causing carcinoid heart disease. We describe a case of a 60-year-old man presented with a twelv...
The review article in this journal by Norrish and Kaski focuses on risk of sudden cardiac death in childhood hypertrophic cardiomyopathy and declare it is time to solve the mystery [...]
We thank Prof Skinner for his thoughtful comments on our review article in this Journal. [...]
We report the case of a 15 years old girl with Williams-Beuren syndrome and atrial mixoma.
