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Carvajal syndrome related to two distinct molecular variants in desmoplakin gene.
Kardiol Pol
July 2024
Department of Congenital Heart Diseases, Cardinal Stefan Wyszyński National Institute of Cardiology, Warsaw, Poland.
CASTing the net wider: A case report of PLACK syndrome associated with dilated cardiomyopathy.
Pediatr Dermatol
November 2024
Department of Internal Medicine, Division of Dermatology, Dell Medical School, University of Texas, Austin, Texas, USA.
Article Synopsis
- PLACK syndrome is a rare genetic skin condition associated with symptoms like peeling skin, white nails, and knuckle pads, caused by mutations in the CAST gene that affects a specific protease.
- This case report discusses a patient with PLACK syndrome who showed unusual palm hyperkeratosis and developed serious heart issues, specifically cardiomyopathy.
- The report emphasizes the need to understand how CAST mutations can affect heart health and highlights the possible links between PLACK syndrome and cardiac problems.
NASCI case of the month: desmoplakin cardiomyopathy masquerading as acute myocarditis.
Int J Cardiovasc Imaging
June 2024
The Russel H. Morgan Department of Radiology and Radiological Sciences, The Johns Hopkins University School of Medicine, Halstead B180, 1800 Orleans Street, Baltimore, MD, 21287, USA.
Article Synopsis
- - A young patient experienced chest pain, and tests indicated possible acute myocarditis.
- - Genetic testing ultimately diagnosed the patient with desmoplakin cardiomyopathy, a specific type of heart disease.
- - It's important to consider desmoplakin cardiomyopathy in cases of recurring myocarditis or if there's a family history of heart issues to prevent misdiagnosis.
A case of Carvajal syndrome presenting with dilated cardiomyopathy.
Cardiol Young
May 2024
Medical Genetics, Marmara University School of Medicine, Istanbul, Turkey.
Article Synopsis
- Carvajal syndrome is a rare genetic condition that affects the heart and skin, caused by a mutation in the desmoplakin gene, leading to symptoms like woolly hair, skin issues, and heart problems.
- A case was presented involving a seven-year-old girl who experienced severe heart failure and dilated cardiomyopathy, alongside notable dermatological symptoms, prompting genetic testing.
- The diagnosis of Carvajal syndrome was confirmed through genetic evaluation, highlighting the importance of recognizing skin manifestations and genetic screening to aid in diagnosis and prevent fatal outcomes.
Aesthetic oral rehabilitation of the upper-anterior sector with supra-nano filling resin in a patient with woolly hair syndrome: case report.
Spec Care Dentist
July 2024
Faculty of Dentistry, Universidad Nacional Mayor de San Marcos, Lima, Peru.
Background: Woolly Hair Syndrome (WHS) is a rare birth condition that affects the structure of hair in non-black people. The pathogenesis is not yet defined. It is postulated that the hair follicle's desmosomes (specifically desmoplaquine, placoglobin and placofilin-1, which are cell structural proteins that keep the adhesion among close cells) would be altered in this pathology, leading to fragility in the cellular union.
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