Publications by authors named "M Alfarano"
Thromboembolic risk is increased in cardiac amyloidosis, and this goes beyond the occurrence of atrial fibrillation in these patients. A 56-year-old man was admitted to our hospital for a presyncopal episode. Clinical and instrumental findings led to a diagnosis of light chain cardiac amyloidosis.
View Article and Find Full Text PDFTransthyretin-mediated amyloidosis (ATTR) is a systemic disease with protein precipitation in many tissues, mainly the peripheral nerve and heart. Both genetic (ATTRv, "v" for variant) and wild-type (ATTRwt) forms are known. Beyond the steric encumbrance, precipitated transthyretin seems to have a toxic effect.
View Article and Find Full Text PDFMyocarditis is an inflammatory disease of the myocardium caused by infectious and noninfectious agents. Clinical manifestations range from mildly symptomatic forms to acute heart failure, cardiogenic shock, life-threatening arrhythmias and sudden death. Myocarditis is still a challenging diagnosis because of its wide variability in clinical presentation and unpredictable course.
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- Darier disease (DD) is an autosomal dominant skin disorder linked to the ATP2A2 gene, primarily affecting keratinocytes, but has shown potential connections to heart issues.
- Recent findings indicate that a specific gene variant may lead to cardiac problems in DD patients, where disconnection of skin cells parallels separation in heart cells, resulting in both skin and heart-related symptoms decades apart.
- Clinical symptoms include skin lesions, chest pain, muscle fatigue, and arrhythmias, with treatment using aminophylline showing promise in alleviating these cardiac symptoms by enhancing specific protein activity.
Background: The limited ability of enzyme replacement therapy (ERT) in removing globotriaosylceramide from cardiomyocytes is recognized for advanced Fabry disease cardiomyopathy (FDCM). Prehypertrophic FDCM is believed to be cured or stabilized by ERT. However, no pathologic confirmation is available.
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