Familial homozygous hypercholesterolemia: When to turn to transplant?

2015 ◽  
Vol 19 (6) ◽  
pp. 577-579 ◽  
Author(s):  
Akihiro Asai ◽  
Rohit Kohli
2005 ◽  
Vol 27 (2) ◽  
pp. 282-285 ◽  
Author(s):  
G. Arora ◽  
C.D. Fraser ◽  
D.L. Kearney ◽  
J.A. Vincent

2011 ◽  
Vol 27 (3) ◽  
pp. 309-313 ◽  
Author(s):  
Shubha Jayaram ◽  
S. Meera ◽  
Sumangala Kadi ◽  
N. Sreenivasa

2019 ◽  
Vol 11 (4) ◽  
pp. NP221-NP225 ◽  
Author(s):  
Ujjwal Kumar Chowdhury ◽  
Abhinavsingh Chauhan ◽  
Suruchi Hasija ◽  
Jhulana Kumar Jena ◽  
Lakshmi Kumari Sankhyan ◽  
...  

Familial homozygous hypercholesterolemia is a rare disease with diverse clinical presentations ranging from premature ischemic heart disease to aortic root stenosis but rarely presents with anginal symptoms due to supravalvular and valvular aortic stenosis. We report a 19-year-old male patient with familial homozygous hypercholesterolemia with progressive supravalvular and valvular aortic stenosis that ultimately required aortic root enlargement and aortic valve replacement using a mechanical prosthesis, despite aggressive medical therapy. Surgical importance of this rare condition is highlighted.


Metabolism ◽  
1978 ◽  
Vol 27 (7) ◽  
pp. 823-829 ◽  
Author(s):  
R.C. Tsang ◽  
C.J. Glueck ◽  
C. McLain ◽  
P. Russell ◽  
T. Joyce ◽  
...  

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