Juvenile haemochromatosis persenting as intractable congestive heart failure;Intractabilis szívelégtelenséget okozó juvenilis haemochromatosis

Orvosi Hetilap

Volumn 146, Issue 51, 2005, Pages 2605-2608

  Vas, Katalin ^a   Hubay, Márta ^b   Tordai, Attila ^c   Andrikovics, Hajnalka ^c   Sápi, Zoltán ^a   Jánosi, András ^a  

^a III Belgyógyászat Kardiológia ^*  (Hungary)

^b SEMMELWEIS UNIVERSITY   (Hungary)

^c Dél pesti Centrumkórház Országos Hematológiai és Infektológiai Intézet   (Hungary)

Author keywords

Congestive heart failure; Juvenile haemochromatosis; Myocardial biopsy

Indexed keywords

ADULT; ANAMNESIS; ARTICLE; CARDIOGENIC SHOCK; CASE REPORT; CLINICAL FEATURE; CONGESTIVE HEART FAILURE; ECHOGRAPHY; GENETIC DISORDER; HEART MUSCLE BIOPSY; HEMOCHROMATOSIS; HUMAN; HUMAN TISSUE; IRON METABOLISM DISORDER; LABORATORY TEST; MALE; ABDOMINAL PAIN; AUTOPSY; BLOOD; DIFFERENTIAL DIAGNOSIS; ECHOCARDIOGRAPHY; FATALITY; HEART STROKE VOLUME; PATHOLOGY; PATHOPHYSIOLOGY; PULMONARY HYPERTENSION;

ABDOMINAL PAIN; ADULT; AUTOPSY; DIAGNOSIS, DIFFERENTIAL; ECHOCARDIOGRAPHY; FATAL OUTCOME; HEART FAILURE, CONGESTIVE; HEMOCHROMATOSIS; HUMANS; HYPERTENSION, PULMONARY; MALE; SHOCK, CARDIOGENIC; STROKE VOLUME;

EID: 33644872975     PISSN: 00306002     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

1. Anderson, L. J., Holden, S., Davis, B. és mtsai: Cardiovascular T2- star (T*) magnetic resonance for the early diagnosis of myocardial iron overload. Eur. Heart. J., 2001, 22, 2171-2179.
2. Britton, R. S., Leicester, K. L., Bacon, B. R.: Iron toxicity and chelation therapy. Int. J. Hematol., 2002, 76, 219-228.
3. De Gobbi, M., Roetto, A., Piperno, A. és mtsai: Natural history of juvenile haemochromatosis. Br. J. Haematol., 2002, 117, 973-979.
4. De Gobbi, M., Caruso, R., Daraio, F. és mtsai: Diagnosis of juvenile haemochromatosis in an 11 year-old child combining genetic analysis and non invasiv liver iron quantation. Eur. J. Pediatr., 2003, 162, 96-99.
5. Jánosi, A., Andrikovics, H., Vas, K. és mtsai: Homozygosity for a novel mutation (G66X) of the HJV gene causes severe juvenile haemochromatosis with fatal cardiomyopathy. Blood, 2005, 10, 432.
6. Jensen, P. D., Bagger, J. P., Jensen, F. T. és mtsai: Heart transplantation in a case of juvenile hereditary haemochromatosis followed up by MRI and endomyocardial biopsies. Eur J Haematol., 1993, 51, 199-205.
7. Menahem, S., Salmon, A. P., Denett, X.: Haemochromatosis presenting as severe cardiac failure in a young adolescent. Int. J. Cardiol., 1990, 29, 86-89.
8. Oliveira e Silva, A., Maciel, L. és mtsai: Refractory heart failure in a 26 year old woman with idiopathic haemochromatosis. Rev. Port. Cardiol., 1994, 13, 771-775.
9. Papanikolaou, G., Samulels, M. E., Ludwig, E. H. és mtsai: Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile haemochromatosis. Nat. Genet., 2004, 36, 77-82.
10. Pietrangelo, A.: Physiology of iron transport and the haemochromatosis gene. Am. J. Physiol. Gastroeintest. Liver Physiol., 2002, 282, G403-414.
11. Pietrangelo A.: Iron induced oxidant stress an alcoholic liver fibrogenesis. Alcohol., 2003, 30, 121-129.
12. Rivard, S. R., Mura, C., Simard, H. és mtsai: Clinical and molecular aspects of juvenile haemochromatosis in Saguenay-Lac-Saint-Jean (Quebec Canada) Blood Cells Mol. Dis., 2000, 26, 10-14.
13. Short, E. M., Winkle, R. A., Billingham, M. E.: Myocardial involvement in idiopathic haemochromatosis. Morphologic and clinical improvement following venesection. Am. J. Med., 1981, 70, 1275-1279.
14. Skinner, C., Kenmure, A. C.: Haemochromatosis presenting as congestive cardiomyopathy and responding to venesection., Br. Heart. J., 1973, 35, 446-468.
15. Strobel, J. S., Fuisz, A. R., Epstein, A. E. és mtsa: Syncope and inducible ventricular fibrillation in a woman with haemochromatosis., J. Interv. Card. Electrophysiol., 1999, 3, 225-229.
16. Surakomol, S., Olson, L. J., Rastogi, ?. és mtsai: Combined orthotopic heart and liver transplantation for genetic haemochromatosis. J. Heart Lung Transplant., 1997, 16, 573-575.
17. Várkonyi, J., Kaltwasser, J. P., Seidl, C. és mtsai: A case of non-HFE juvenile haemochromatosis presenting with adrenocortical insufficiency., Br. J. Haematol., 2000, 109, 252-253.
18. Witte, D. L., Crosby, W. H., Edwards, C. Q. és mtsai: Practice guideline development task force of the College of American Pathologists. Hereditary haemochromatosis. Clin. Chim. Acta, 1996, 245, 139-200.
19. Yalcinkaya, S., Kumbasar, S. D., Semiz, E. és mtsai: Sustained ventricular tachycardia in cardiac haemochromatosis treated with amiodarone. J. Electrocardiol., 1997, 30, 147-149.
20. Yang, Q., McDonnell, S. M., Khoury, M. J. és mtsai: Haemochromatosis-associated mortality in the United States from 1979 to 1992: an analysis of Multiple-Cause Mortality Data., Ann Intern Med., 1998, 129, 946-953.