Compound sarcomeric mutations causing hypertrophic cardiomyopathy in a young Sardinian soccer player: a family affair

2020 ◽  
Vol 59 (12) ◽  
Author(s):  
Nicola Marziliano ◽  
Valeria Orrù ◽  
Tanuccia Secci ◽  
Sara Uras ◽  
Claudio Reverberi ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Soccer Player ◽  
Sarcomeric Mutations

Significance of the Carriage of Sarcomeric Mutations in Hypertrophic Cardiomyopathy in New Zealand

2021 ◽  
Vol 30 ◽  
pp. S61
Author(s):  
N. Earle ◽  
A. Winbo ◽  
J. Crawford ◽  
M. Wheeler ◽  
R. Stiles ◽  
...  
Keyword(s):  
New Zealand ◽  
Hypertrophic Cardiomyopathy ◽  
Sarcomeric Mutations

scholarly journals 0178 : Global and regional echocardiographic strain to assess early phase of hypertrophic cardiomyopathy due to sarcomeric mutations

2016 ◽  
Vol 8 (3) ◽  
pp. 241
Author(s):  
Guillaume Baudry ◽  
Nicolas Mansencal ◽  
Riadh Cheikh-Khelifa ◽  
Pascale Richard ◽  
Richard Isnard ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Early Phase ◽  
Sarcomeric Mutations

scholarly journals Mimics of Hypertrophic Cardiomyopathy – Diagnostic Clues to Aid Early Identification of Phenocopies

2013 ◽  
Vol 2 (1) ◽  
pp. 36 ◽  
Author(s):  
Rajiv Sankaranarayanan ◽  
Eleanor J Fleming ◽  
Clifford J Garratt ◽  
◽  
◽  
...  
Keyword(s):  
Genetic Testing ◽  
Hypertrophic Cardiomyopathy ◽  
Early Identification ◽  
Inborn Errors Of Metabolism ◽  
Early Stage ◽  
Inborn Errors ◽  
Sarcomeric Mutations ◽  
Widespread Availability ◽  
High Level ◽  
Storage Disorders

Hypertrophic cardiomyopathy (HCM) is the most common genetic cause of cardiomyopathy worldwide. Significant advances and widespread availability of genetic testing have improved detection of the sarcomeric mutations that cause HCM, but have also highlighted the significance of inborn errors of metabolism (IEM) or metabolic storage disorders that can mimic HCM (‘HCM phenocopies’). These conditions cannot always be reliably differentiated on the basis of imaging alone. Whilst HCM phenocopies are relatively rare, it is crucial to distinguish these conditions at an early stage as their natural history, management and prognosis vary significantly from that of HCM with sarcomeric mutations. This review illustrates the salient features of HCM phenocopies and stresses the need for a high level of suspicion for these conditions in the assessment of cardiac hypertrophy.

scholarly journals Undiagnosed apical hypertrophic cardiomyopathy in an old amateur soccer player: a case report

2021 ◽  
Vol 40 ◽  
Author(s):  
Mahassine El Harras ◽  
Ilham Bensahi ◽  
Salma Abdeladim ◽  
Fatimazahra Merzouk ◽  
Amal Elouarradi ◽  
...  
Keyword(s):  
Case Report ◽  
Hypertrophic Cardiomyopathy ◽  
Soccer Player ◽  
Apical Hypertrophic Cardiomyopathy

scholarly journals 291Myocardial dysfunction in hypertrophic cardiomyopathy: primary effects of sarcomeric mutations versus secondary cardiomyocyte remodeling?

2014 ◽  
Vol 103 (suppl 1) ◽  
pp. S53.2-S53
Author(s):  
R Coppini ◽  
F Gentile ◽  
L Mazzoni ◽  
C Ferrantini ◽  
B Tosi ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Sarcomeric Mutations

scholarly journals 0198: Global and regional echocardiographic strain to assess early phase of hypertrophic cardiomyopathy due to sarcomeric mutations

2016 ◽  
Vol 8 (1) ◽  
pp. 33
Author(s):  
Guillaume Baudry ◽  
Nicolas Mansencal ◽  
Riadh Cheikh-Khelifa ◽  
Pascale Richard ◽  
Richard Isnard ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Early Phase ◽  
Sarcomeric Mutations
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