J. Biol. Chem. jbc.M110.163253First Published on December 28, 2010, doi:10.1074/jbc.M110.163253
Alexandra Seguin, Renata Santos, Debkumar Pain, Andrew Dancis, Jean-Michel Camadro, Emmanuel Lesuisse
Institut Jacques Monod, France; University of Medicine and Dentistry of New Jersey, United States; University of Pennsylvania, United States
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Thursday, December 30, 2010
Enfermedad cardiovascular en pacientes cubanos afectados por Ataxia de Friedreich.
Cardiovascular disease in Cuban patients affected by Friedreich's ataxia. (full text in Spanish)
Revista Electrónica "Ciencias Holguín", Año XVI, No. 4, Mes Diciembre 2010, ISSN 1027-2127.
Dra. Tania Cruz Mariño. Dra. Ana Luz Portelles Caminero. Dr. William Áreas Zalazar. Dr. Luis Velázquez Pérez.
ABSTRACT
In describing the Friedreich's ataxia, Nicholaus referred to cardiac disease. This autosomal recessive disease is due to dynamic mutation in the FRDA gene, encoding the protein frataxin deficiency, leading to oxidative stress and cardiac cell death. This research was conducted in order to describe the cardiovascular abnormalities present in Cuban patients affected by Friedreich's ataxia. Individuals with confirmatory molecular diagnosis of the disease underwent electrocardiogram, echocardiogram, and clinical assessment by internationally validated scales: ICARS and SARA. Ventricular re-polarization disorders diffuse intra-atrial conduction disturbances and disorders of diastolic function were common findings. The restrictive pattern appreciated provides live evidence that the disease leads to left ventricular diastolic dysfunction. The occurrence of a silent acute myocardial infarction indicates the importance of identifying emerging forms of myocardial involvement.
KEY WORDS: FRIEDREICH'S ATAXIA; HEREDITARY ATAXIA; CARDIOMYOPATHY; MYOCARDIAL INFARCTION.
Revista Electrónica "Ciencias Holguín", Año XVI, No. 4, Mes Diciembre 2010, ISSN 1027-2127.
Dra. Tania Cruz Mariño. Dra. Ana Luz Portelles Caminero. Dr. William Áreas Zalazar. Dr. Luis Velázquez Pérez.
ABSTRACT
In describing the Friedreich's ataxia, Nicholaus referred to cardiac disease. This autosomal recessive disease is due to dynamic mutation in the FRDA gene, encoding the protein frataxin deficiency, leading to oxidative stress and cardiac cell death. This research was conducted in order to describe the cardiovascular abnormalities present in Cuban patients affected by Friedreich's ataxia. Individuals with confirmatory molecular diagnosis of the disease underwent electrocardiogram, echocardiogram, and clinical assessment by internationally validated scales: ICARS and SARA. Ventricular re-polarization disorders diffuse intra-atrial conduction disturbances and disorders of diastolic function were common findings. The restrictive pattern appreciated provides live evidence that the disease leads to left ventricular diastolic dysfunction. The occurrence of a silent acute myocardial infarction indicates the importance of identifying emerging forms of myocardial involvement.
KEY WORDS: FRIEDREICH'S ATAXIA; HEREDITARY ATAXIA; CARDIOMYOPATHY; MYOCARDIAL INFARCTION.
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