scholarly journals Histiocytoid Cardiomyopathy

2020 ◽  
Author(s):  
Keyword(s):  
Histiocytoid Cardiomyopathy

P35 Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: Phenotypes linked by truncating variants inNDUFB11

Heart ◽  
2016 ◽  
Vol 102 (Suppl 1) ◽  
pp. A18.2-A18
Author(s):  
Gillian Rea ◽  
James S Ware ◽  
Tessa Homfray ◽  
Jan Till ◽  
Ferran Roses-Noguer ◽  
...  
Keyword(s):  
Skin Defects ◽  
Histiocytoid Cardiomyopathy

Association of Ventricular Noncompaction and Histiocytoid Cardiomyopathy: Case Report and Review of the Literature

2012 ◽  
Vol 15 (5) ◽  
pp. 397-402 ◽  
Author(s):  
Silvia Planas ◽  
Joan Carles Ferreres ◽  
Joan Balcells ◽  
Marta Garrido ◽  
Santiago Ramón y Cajal ◽  
...  
Keyword(s):  
Case Report ◽  
Review Of The Literature ◽  
Ventricular Noncompaction ◽  
Histiocytoid Cardiomyopathy

Orthotopic heart transplantation in a child with histiocytoid cardiomyopathy

2004 ◽  
Vol 23 (7) ◽  
pp. 902-904 ◽  
Author(s):  
Steven D. Zangwill ◽  
Beth A. Trost ◽  
Jane Zlotocha ◽  
James S. Tweddell ◽  
Robert D. Jaquiss ◽  
...  
Keyword(s):  
Heart Transplantation ◽  
Orthotopic Heart Transplantation ◽  
Histiocytoid Cardiomyopathy

Histiocytoid Cardiomyopathy in Infancy: A New Hypothesis?

CHEST Journal ◽  
1980 ◽  
Vol 77 (4) ◽  
pp. 556-558 ◽  
Author(s):  
M. Amini ◽  
C. Bosman ◽  
B. Marino
Keyword(s):  
Histiocytoid Cardiomyopathy ◽  
New Hypothesis

Purkinje Fiber Dysplasia (Histiocytoid Cardiomyopathy) with Ventricular Noncompaction in a Savannah Kitten

2009 ◽  
Vol 46 (4) ◽  
pp. 693-697 ◽  
Author(s):  
H. B. Gelberg
Keyword(s):  
Organizational Development ◽  
Chromogranin A ◽  
Mitochondrial Disorder ◽  
Purkinje Fiber ◽  
Muscle Actin ◽  
Ventricular Noncompaction ◽  
Purkinje Fibers ◽  
Histiocytoid Cardiomyopathy ◽  
Pathologic Findings

In a 2-month-old female savannah kitten that died unexpectedly, the pathologic findings of significance were restricted to the heart and included abnormal Purkinje fibers and biventricular myocardial trabeculation or noncompaction. The Purkinje fibers were large, angular, and tightly packed. They contained few disorganized myofibrils among a rarified cytoplasm. The fibers were distinct from adjacent myocytes and were immunohistochemically positive for desmin, muscle actin, myoglobin, sarcomeric actin, and chromogranin A. These findings are identical to those that occur in children with histiocytoid cardiomyopathy, a fatal genetic mitochondrial disorder of Purkinje fibers. Ventricular noncompaction likely has a multifactoral cause that results from fetal arrest of ventricular organizational development that might occur in conjunction with, or independent of, histiocytoid cardiomyopathy.

scholarly journals Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11

2016 ◽  
Vol 3 (1) ◽  
pp. a001271 ◽  
Author(s):  
Gillian Rea ◽  
Tessa Homfray ◽  
Jan Till ◽  
Ferran Roses-Noguer ◽  
Rachel J. Buchan ◽  
...  
Keyword(s):  
Skin Defects ◽  
Histiocytoid Cardiomyopathy

scholarly journals 209 Whole Exome Sequencing Identifies Genetic Cause of Histiocytoid Cardiomyopathy

Heart ◽  
2016 ◽  
Vol 102 (Suppl 6) ◽  
pp. A138.2-A139
Author(s):  
Gillian Rea ◽  
Tessa Homfray ◽  
Jan Till ◽  
Ferran Roses-Noguer ◽  
Rachel J Buchan ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Histiocytoid Cardiomyopathy ◽  
Whole Exome

Histiocytoid Cardiomyopathy

2012 ◽  
Vol 2 (4) ◽  
pp. 394-396
Author(s):  
J. Keith Pinckard
Keyword(s):  
Histiocytoid Cardiomyopathy
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