scholarly journals Childhood Hypertrophic Cardiomyopathy: A Disease of the Cardiac Sarcomere

2021 ◽  
Vol 9 ◽  
Author(s):  
Gabrielle Norrish ◽  
Ella Field ◽  
Juan P. Kaski
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Protein Gene ◽  
Survival Rates ◽  
Young Patients ◽  
Disease Phenotype ◽  
Childhood Onset ◽  
Sarcomeric Protein ◽  
Disease Modifying Therapies ◽  
Exciting Opportunity ◽  
Disease Modifying

Hypertrophic cardiomyopathy is the second most common cause of cardiomyopathy presenting during childhood and whilst its underlying aetiology is variable, the majority of disease is caused by sarcomeric protein gene variants. Sarcomeric disease can present at any age with highly variable disease phenotype, progression and outcomes. The majority have good childhood-outcomes with reported 5-year survival rates above 80%. However, childhood onset disease is associated with considerable life-long morbidity and mortality, including a higher SCD rate during childhood than seen in adults. Management is currently focused on relieving symptoms and preventing disease-related complications, but the possibility of future disease-modifying therapies offers an exciting opportunity to modulate disease expression and outcomes in these young patients.

Case Report of a 33-year-old with Ebstein malformation of tricuspid valve and hypertrophic cardiomyopathy

2021 ◽  
pp. 1-2
Author(s):  
Sedigheh Saedi ◽  
Pooneh Pashapour ◽  
Golnaz Houshmand
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Tricuspid Valve ◽  
Cardiac Death ◽  
Rare Case ◽  
Protein Gene ◽  
Gene Mutations ◽  
Left Ventricular ◽  
Congenital Disease ◽  
Ventricular Cardiomyopathy ◽  
Sarcomeric Protein

Abstract Ebstein malformation of tricuspid valve is a congenital disease of tricuspid valve with associated right ventricular cardiomyopathy. Hypertrophic cardiomyopathy is a form of inherited left ventricular cardiomyopathy caused by sarcomeric protein gene mutations with inherent risks of sudden cardiac death. Here we report a rare case with co-occurrence of Ebstein malformation of tricuspid valve and hypertrophic cardiomyopathy in a young patient.

scholarly journals Ethical use of off-label disease-modifying therapies for multiple sclerosis

2021 ◽  
pp. 135245852110302
Author(s):  
Joanna Laurson-Doube ◽  
Nick Rijke ◽  
Anne Helme ◽  
Peer Baneke ◽  
Brenda Banwell ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Clinical Decision Making ◽  
Clinical Decision ◽  
World Health ◽  
World Federation ◽  
Off Label ◽  
Disease Modifying Therapies ◽  
The World ◽  
Disease Modifying ◽  
Health Organization

Background: Off-label disease-modifying therapies (DMTs) for multiple sclerosis (MS) are used in at least 89 countries. There is a need for structured and transparent evidence-based guidelines to support clinical decision-making, pharmaceutical policies and reimbursement decisions for off-label DMTs. Objectives/Results: The authors put forward general principles for the ethical use of off-label DMTs for treating MS and a process to assess existing evidence and develop recommendations for their use. Conclusion: The principles and process are endorsed by the World Federation of Neurology (WFN), American Academy of Neurology (AAN), European Academy of Neurology (EAN), Americas Committee for Treatment and Research in Multiple Sclerosis (ACTRIMS), European Committee for Treatment and Research in Multiple Sclerosis (ECTRIMS), Middle-East North Africa Committee for Treatment and Research in Multiple Sclerosis (MENACTRIMS) and Pan-Asian Committee for Treatment and Research in Multiple Sclerosis (PACTRIMS), and we have regularly consulted with the Brain Health Unit, Mental Health and Substance Use Department at the World Health Organization (WHO).

scholarly journals Disease‐Modifying Therapies and Coronavirus Disease 2019 Severity in Multiple Sclerosis

2021 ◽  
Author(s):  
Maria P. Sormani ◽  
Nicola De Rossi ◽  
Irene Schiavetti ◽  
Luca Carmisciano ◽  
Cinzia Cordioli ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Disease Modifying Therapies ◽  
Disease Modifying

Human papillomavirus lesions in 16 MS patients treated with fingolimod: Outcomes and vaccination

2021 ◽  
pp. 135245852199143
Author(s):  
Elsa Mhanna ◽  
Agathe Nouchi ◽  
Céline Louapre ◽  
Raphael De Paz ◽  
Olivier Heinzlef ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Human Papillomavirus ◽  
Hpv Vaccination ◽  
Case Series ◽  
Good Tolerance ◽  
Prevalence Studies ◽  
Disease Modifying Therapies ◽  
Disease Modifying ◽  
Hpv Screening

Few cases of human papillomavirus (HPV) diseases have been reported in multiple sclerosis (MS) patients treated with fingolimod. We describe a case series of 16 MS patients (11 women, 5 men) developing HPV lesions after the onset of fingolimod, without previous HPV history. Fingolimod had to be discontinued in six patients. Six patients received vaccination for HPV, with good tolerance. Our report highlights that systematic HPV screening and discussion about HPV vaccination before fingolimod onset are crucial. In case of occurrence of HPV lesions during fingolimod treatment, a comprehensive workup of HPV disease is necessary, with discussion of HPV vaccination to prevent secondary lesions. Prevalence studies of HPV lesions are needed in MS patients with the different disease-modifying therapies.

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