Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation: The Distinctive Natural History of Sarcomeric DCM

2009 ◽  
Vol 15 (6) ◽  
pp. S3
Author(s):  
Neal K. Lakdawala ◽  
Lisa Dellefave ◽  
Elizabeth Sparks ◽  
Allison Cirino ◽  
Steve Depalma ◽  
...  
2002 ◽  
Vol 39 ◽  
pp. 149
Author(s):  
Andrea Di Lenarda ◽  
Elisa Carniel ◽  
Gastone Sabbadini ◽  
Mauro Driussi ◽  
Serena Rakar ◽  
...  

Author(s):  
F. Camerini ◽  
A. Di Lenarda ◽  
G. Lardieri ◽  
L. Mestroni ◽  
A. Perkan ◽  
...  

1994 ◽  
Vol 74 (7) ◽  
pp. 737-739 ◽  
Author(s):  
Margaret M. Redfield ◽  
Bernard J. Gersh ◽  
Kent R. Bailey ◽  
Richard J. Rodeheffer

1993 ◽  
Vol 22 (7) ◽  
pp. 1921-1926 ◽  
Author(s):  
Margaret M. Redfield ◽  
Bernard J. Gersh ◽  
Kent R. Bailey ◽  
David J. Ballard ◽  
Richard J. Rodeheffer

1996 ◽  
Vol 53 (2) ◽  
pp. 163-170 ◽  
Author(s):  
Han B. Xiao ◽  
Craig Roy ◽  
Shinichi Fujimoto ◽  
Derek G. Gibson

Author(s):  
Ilaria Puggia ◽  
Marco Merlo ◽  
Giulia Barbati ◽  
Teisha J. Rowland ◽  
Davide Stolfo ◽  
...  

2018 ◽  
Vol 39 (suppl_1) ◽  
Author(s):  
F Dominguez Rodriguez ◽  
S Cuenca ◽  
Z Bilinska ◽  
R Toro ◽  
P Charron ◽  
...  

1996 ◽  
Vol 128 (2) ◽  
pp. 225-229 ◽  
Author(s):  
Jacques L. Michaud ◽  
Elise Héon ◽  
Françoise Guilbert ◽  
Jacques Weill ◽  
Bernard Puech ◽  
...  

2021 ◽  
Vol 49 (4) ◽  
pp. 030006052110065
Author(s):  
Ying-shuo Huang ◽  
Yun-li Xing ◽  
Hong-wei Li

Familial dilated cardiomyopathy (FDCM) is characterized by high genetic heterogeneity and an increased risk of heart failure or sudden cardiac death in adults. We report the case of a 62-year-old man with a 2-month history of shortness of breath during activity, without paroxysmal nocturnal dyspnea. The patient underwent a series of examinations including transthoracic echocardiography, coronary arteriography, transesophageal echocardiography, and myocardial perfusion imaging. After excluding secondary cardiac enlargement, he was diagnosed with dilated cardiomyopathy (DCM). His sister had also been diagnosed with DCM several years before. Genetic sequencing analysis revealed that the patient, his sister, and his son all had the same mutation in the desmin gene ( DES) (chr2-220785662, c.1010C>T). Genetic testing confirmed a heterozygous DES mutation contributing to FDCM. In this case, the etiology of the patient’s whole-heart enlargement was determined as FDCM with DES gene mutation. This is the first report to describe DES c.1010C>T as a cause of FDCM.


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