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1.
Interact Cardiovasc Thorac Surg ; 33(6): 978-985, 2021 11 22.
Artigo em Inglês | MEDLINE | ID: mdl-34313320

RESUMO

OBJECTIVES: Right ventricular failure after left ventricular assist device (LVAD) insertion is associated with significant mortality and morbidity. Mechanical support options include right ventricular assist devices, venoarterial extracorporeal membrane oxygenation (ECMO) and venopulmonary artery ECMO, the latter often involving central cannulation. We sought to evaluate the feasibility and early outcomes of a truly percutaneous venopulmonary artery (pVPA) ECMO strategy, with the potential advantage of bedside removal once weaned. METHODS: Data from a single tertiary centre were reviewed retrospectively from January 2014 to January 2019. During this time, 54 patients underwent LVAD insertion, with 19 requiring mechanical support for right ventricular failure. Among them, 10 patients received pVPA ECMO. Implantation of the pVPA ECMO was performed under transoesophageal echocardiography and fluoroscopy guidance, with an inflow cannula placed in the right atrium via the right femoral vein and an outflow cannula placed in the left pulmonary artery (PA) via the right internal jugular vein. RESULTS: Cannula insertion was 100% successful with no need for repositioning. Eight patients (80%) were able to be successfully weaned (at the bedside); 6 were discharged from the hospital and there were no cases of early sepsis, mediastinitis or thromboembolism. At follow-up, 5 patients had received transplants (50%), with 1 on LVAD support as destination therapy (10%). Survival was 60 ± 15% and 50 ± 16% at 6 and 12 months, respectively. CONCLUSIONS: pVPA ECMO is 100% technically feasible and is an efficient method for temporary right ventricular support after LVAD insertion with the advantage of simple bedside removal and avoidance of a PA graft remnant in the chest cavity.


Assuntos
Oxigenação por Membrana Extracorpórea , Insuficiência Cardíaca , Coração Auxiliar , Oxigenação por Membrana Extracorpórea/métodos , Insuficiência Cardíaca/complicações , Insuficiência Cardíaca/diagnóstico por imagem , Insuficiência Cardíaca/terapia , Coração Auxiliar/efeitos adversos , Humanos , Artéria Pulmonar/diagnóstico por imagem , Estudos Retrospectivos
2.
Chest ; 159(5): 1843-1853, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33217416

RESUMO

BACKGROUND: Postoperative pulmonary complications are common after cardiac surgery and have been related to lung collapse during cardiopulmonary bypass (CPB). No consensus exists regarding the effects of maintaining mechanical ventilation during CPB to decrease these complications. RESEARCH QUESTION: To determine whether maintaining low-tidal ventilation (3 mL/kg 5 times/min, with positive end expiratory pressure of 5 cm H2O) during CPB (ventilation strategy) was superior to a resting-lung strategy with no ventilation (no ventilation strategy) regarding postoperative pulmonary complications, including mortality. STUDY DESIGN AND METHODS: In a randomized controlled trial, patients undergoing cardiac surgery at a single center from May 2017 through August 2019 were randomized to the ventilation or no ventilation strategy during CPB (1:1 ratio). Apart from the CPB phase, perioperative ventilation procedures were standardized. RESULTS: The study included 1,501 patients (mean age, 68.8 ± 10.3 years; 1,152 (76.7%) men; mean EuroSCORE II, 2.3 ± 2.7). Seven hundred fifty-six patients were in the ventilation strategy group, and no differences existed in baseline characteristics and types of procedures between the two groups. An intention-to-treat analysis yielded no significant difference between the ventilation and no ventilation groups regarding incidence of the primary composite outcome combining death, early respiratory failure, ventilation support beyond day 2, and reintubation, with 112 of 756 patients (14.8%) in the ventilation group vs 133 of 745 patients (17.9%) in the no ventilation group (OR, 0.80; 95% CI, 0.61-1.05; P = .11). Strict per-protocol analyses of 1,338 patients (89.1%) with equally distributed preoperative characteristics yielded similar results (OR, 0.81; 95% CI, 0.60-1.09; P = .16). Post hoc analysis of the subgroup who underwent isolated coronary artery bypass graft procedures (n = 725) showed that the ventilation strategy was superior to the no ventilation strategy regarding the primary outcome (OR, 0.56; 95% CI, 0.37-0.84; P = .005). INTERPRETATION: Among patients undergoing cardiac surgery with CPB, continuation of low tidal volume ventilation was not superior to no ventilation during CPB with respect to postoperative complications, including death, early respiratory failure, ventilation support beyond day 2, and reintubation. TRIAL REGISTRY: ClinicalTrials.gov; No.: NCT03098524; URL: www.clinicaltrials.gov.


Assuntos
Procedimentos Cirúrgicos Cardíacos , Ponte Cardiopulmonar , Complicações Pós-Operatórias/prevenção & controle , Respiração Artificial/métodos , Idoso , Feminino , Humanos , Masculino , Complicações Pós-Operatórias/mortalidade , Volume de Ventilação Pulmonar
3.
Arch Cardiovasc Dis ; 113(1): 59-69, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31866173

RESUMO

Coronary aneurysms are classically defined as a segment of the artery in which dilation exceeds the diameter of an adjacent portion (considered as a reference point) by more than 1.5times. In rare instances, coronary artery aneurysms are large enough to be called giant coronary artery aneurysms, which have been reported as occurring with an incidence of 0.02%. However, there is no clear consensus on how giant coronary artery aneurysms should be defined, and their aetiology is not entirely clear; many causes have been suggested, with atherosclerosis being the most common among adults, accounting for up to 50% of cases, and paediatric diseases, such as Kawasaki disease and Takayasu arteritis, being the other main aetiology. Although giant coronary artery aneurysms are often incidental findings, many complications, such as local thrombosis, distal embolization, rupture and vasospasm, associated with ischaemia, heart failure and arrhythmias, have been reported. The optimal medical, interventional or surgical management, still needs to be clarified. This literature review aims to summarize current knowledge on giant coronary artery aneurysms.


Assuntos
Técnicas de Imagem Cardíaca , Aneurisma Coronário/diagnóstico por imagem , Aneurisma Coronário/terapia , Aneurisma Coronário/epidemiologia , Aneurisma Coronário/fisiopatologia , Humanos , Valor Preditivo dos Testes , Fatores de Risco , Resultado do Tratamento
5.
Heart Lung Circ ; 28 Suppl 3: S129, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31470979

RESUMO

This article has been retracted: please see Elsevier Policy on Article Withdrawal (https://www.elsevier.com/about/our-business/policies/article-withdrawal). This article has been retracted at the request of the Authors. This abstract has been published due to a miscommunication in the ANZSCTS ASM conference supplement. It needs to be retracted as we the authors wish to submit a full length paper with updated material.

7.
Trials ; 18(1): 582, 2017 Dec 02.
Artigo em Inglês | MEDLINE | ID: mdl-29197407

RESUMO

BACKGROUND: Postoperative pulmonary complications are a leading cause of morbidity and mortality after cardiac surgery. There are no recommendations on mechanical ventilation associated with cardiopulmonary bypass (CPB) during surgery and anesthesiologists perform either no ventilation (noV) at all during CPB or maintain low tidal volume (LTV) ventilation. Indirect evidence points towards better pulmonary outcomes when LTV is performed but no large-scale prospective trial has yet been published in cardiac surgery. DESIGN: The MECANO trial is a single-center, double-blind, randomized, controlled trial comparing two mechanical ventilation strategies, noV and LTV, during cardiac surgery with CPB. In total, 1500 patients are expected to be included, without any restrictions. They will be randomized between noV and LTV on a 1:1 ratio. The noV group will receive no ventilation during CPB. The LTV group will receive 5 breaths/minute with a tidal volume of 3 mL/kg and positive end-expiratory pressure of 5 cmH2O. The primary endpoint will be a composite of all-cause mortality, early respiratory failure defined as a ratio of partial pressure of oxygen/fraction of inspired oxygen <200 mmHg at 1 hour after arrival in the ICU, heavy oxygenation support (defined as a patient requiring either non-invasive ventilation, mechanical ventilation or high-flow oxygen) at 2 days after arrival in the ICU or ventilator-acquired pneumonia defined by the Center of Disease Control. Lung recruitment maneuvers will be performed in the noV and LTV groups at the end of surgery and at arrival in ICU with an insufflation at +30 cmH20 for 5 seconds. Secondary endpoints are those composing the primary endpoint with the addition of pneumothorax, CPB duration, quantity of postoperative bleeding, red blood cell transfusions, revision surgery requirements, length of stay in the ICU and in the hospital and total hospitalization costs. Patients will be followed until hospital discharge. DISCUSSION: The MECANO trial is the first of its kind to compare in a double-blind design, a no-ventilation to a low-tidal volume strategy for mechanical ventilation during cardiac surgery with CPB, with a primary composite outcome including death, respiratory failure and postoperative pneumonia. TRIAL REGISTRATION: ClinicalTrials.gov, NCT03098524 . Registered on 27 February 2017.


Assuntos
Procedimentos Cirúrgicos Cardíacos , Ponte Cardiopulmonar , Pneumopatias/prevenção & controle , Pulmão/fisiopatologia , Respiração Artificial/métodos , Volume de Ventilação Pulmonar , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Procedimentos Cirúrgicos Cardíacos/economia , Procedimentos Cirúrgicos Cardíacos/mortalidade , Ponte Cardiopulmonar/efeitos adversos , Ponte Cardiopulmonar/economia , Ponte Cardiopulmonar/mortalidade , Protocolos Clínicos , Método Duplo-Cego , França , Custos Hospitalares , Mortalidade Hospitalar , Humanos , Tempo de Internação , Pneumopatias/economia , Pneumopatias/etiologia , Pneumopatias/fisiopatologia , Projetos de Pesquisa , Respiração Artificial/efeitos adversos , Respiração Artificial/economia , Respiração Artificial/mortalidade , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento
12.
Cardiovasc Pathol ; 19(2): 112-6, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-19144550

RESUMO

BACKGROUND: Ventricular assistance device (VAD) implantation provides large ventricular core biopsies available for pathological assessment. We present here the pathological data from 60 apex removed during a 7-year-period in a single institution. RESULTS: The most frequent specific lesions were ischemic myocardial damage. Nonspecific pathological features were quite as frequently observed and correspond either to dilated cardiomyopathies, chronic ischemic cardiopathies, or miscellaneous conditions. Myocarditis represented 10 out of the 60 cases. The pathological data changed the clinical diagnosis in four cases: 1 case of juvenile hemochromatosis featuring as myocarditis and three cases of myocarditis featuring as dilated cardiomyopathies. CONCLUSION: Apex pathological analysis provides definite diagnosis and contributes to determine the cases which the cardiac disease have a possibility to recover under VAD.


Assuntos
Cardiopatias/patologia , Insuficiência Cardíaca/patologia , Ventrículos do Coração/patologia , Coração Auxiliar , Miocárdio/patologia , Implantação de Prótese , Adolescente , Adulto , Cardiomiopatia Hipertrófica/complicações , Cardiomiopatia Hipertrófica/patologia , Cardiomiopatia Hipertrófica/cirurgia , Criança , Feminino , Cardiopatias/complicações , Cardiopatias/cirurgia , Insuficiência Cardíaca/etiologia , Insuficiência Cardíaca/cirurgia , Ventrículos do Coração/cirurgia , Hemocromatose/complicações , Hemocromatose/patologia , Hemocromatose/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/complicações , Infarto do Miocárdio/patologia , Infarto do Miocárdio/cirurgia , Miocardite/complicações , Miocardite/patologia , Miocardite/cirurgia , Adulto Jovem
13.
Int J Artif Organs ; 32(4): 243-5, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19569033

RESUMO

Cardiac transplantation is an ever more frequent requirment for patients presenting with end-stage right systemic ventricular failure late after atrial switch operations. But as the time on the donor waiting list lengthens, the clinical conditions of these patients can easily and abruptly deteriorate, sometimes requiring systemic ventricular assistance. We document the first case of right systemic ventricular assistance with a De Bakey VAD axial pump in a patient presenting with systemic ventricular failure 23 years after procedure. He rapidly recovered total autonomy and was thus able to participate in a rehabilitation program to optimize his condition for heart transplantation.


Assuntos
Insuficiência Cardíaca/terapia , Coração Auxiliar , Transposição dos Grandes Vasos/cirurgia , Procedimentos Cirúrgicos Cardíacos , Desenho de Equipamento , Ventrículos do Coração/diagnóstico por imagem , Humanos , Masculino , Fatores de Tempo , Tomografia Computadorizada por Raios X , Ultrassonografia , Adulto Jovem
15.
Ann Thorac Surg ; 80(3): 945-8, 2005 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16122460

RESUMO

BACKGROUND: Previous reports, all concerning pulsatile devices, have indicated an increased risk of development of circulating antileukocyte antigen (HLA; human leukocyte antigen) antibodies during ventricular assist device (VAD) support. We investigated sensitization in patients implanted with the DeBakey VAD (MicroMed Technology, Inc, Houston, TX) axial flow pump as a bridge to heart transplantation. METHODS: Inclusion criteria for this prospective study were the following. Patients implanted with the DeBakey VAD axial flow pump, without HLA antibodies prior to implantation, with a duration of support of at least one month. The HLA antibody testing for IgG and IgM class I and II antibodies was performed weekly during support, using both a complement dependant cytotoxicity assay and an enzyme-linked immunosorbent assay (ELISA). Retrospective cross match was performed for all patients transplanted. The occurrence of graft rejection was determined by regular endomyocardial biopsies after heart transplantation, graded according to the International Society for Heart and Lung Transplantation (ISHLT) guidelines. Additionally, the transfusion history was reviewed for all patients. RESULTS: Fourteen patients were included representing 1,220 cumulative patient-days of support (mean duration time on support, 87 days). No patient developed detectable IgG antibodies to class I or II. One patient had a positive ELISA, corresponding to nonsignificant (6/30) class I IgM antibodies at 3 weeks postimplantation. Ten patients underwent successful heart transplantation, representing 156 cumulative months. No retrospective cross match was positive. The percentage of significant acute rejection episodes (ISHLT grade 3A or more) was 6% and 4.3% in the first 6 months and from 6 to 12 months, respectively. No vascular rejection was noted. The posttransplantation survival rate was 87% at 6 months and 75% at 1 year, respectively. CONCLUSIONS: Patients implanted with the DeBakey VAD axial flow pump as a bridge to heart transplantation do not appear to be exposed to an increased risk of sensitization.


Assuntos
Antígenos HLA/imunologia , Coração Auxiliar , Adulto , Formação de Anticorpos/imunologia , Cardiomiopatia Dilatada/imunologia , Cardiomiopatia Dilatada/cirurgia , Desenho de Equipamento , Rejeição de Enxerto/imunologia , Transplante de Coração , Humanos , Masculino , Pessoa de Meia-Idade , Isquemia Miocárdica/imunologia , Isquemia Miocárdica/cirurgia , Estudos Prospectivos , Resultado do Tratamento
16.
Circulation ; 111(19): 2532-6, 2005 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-15867185

RESUMO

BACKGROUND: Several investigators have reported the feasibility of mitral valve repair in active endocarditis, but the long-term results are still unknown. METHODS AND RESULTS: We reviewed 37 consecutive patients who underwent mitral valve repair with the Carpentier technique for active endocarditis in our center between 1989 and 1994. This repair involved prosthetic annuloplasty in 31 patients (84%), valve resection in 31 (84%), chordal shortening or transposition in 19 (51%), pericardial patch in 16 (43%), and direct suture of leaflet perforation in 4 (11%). Associated procedures were primarily aortic valve repair or replacement in 11 (30%) and tricuspid repair in 2 (6%). Early complications included 1 operative death (3%; 95% CI, 0 to 15.5) and 1 reoperation for pericardial patch dehiscence. Recurrence of endocarditis was observed in 1 patient (3%; 95% CI, 0 to 16). The 10-year survival rate and freedom from mitral valve reoperation were 80% (95% CI, 66 to 94) and 91% (95% CI, 81 to 100), respectively. At 10 years, most patients (96%) were in good functional status (NYHA class I to II) with no or trivial mitral regurgitation (92%) on echocardiography. CONCLUSIONS: Mitral valve repair using Carpentier's techniques in patients with active endocarditis offers very good long-term results with a low rate of recurrence or reoperation.


Assuntos
Endocardite/cirurgia , Valva Mitral/cirurgia , Adolescente , Adulto , Idoso , Procedimentos Cirúrgicos Cardíacos , Criança , Intervalo Livre de Doença , Endocardite/mortalidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valva Mitral/patologia , Insuficiência da Valva Mitral/mortalidade , Insuficiência da Valva Mitral/cirurgia , Recidiva , Estudos Retrospectivos , Taxa de Sobrevida , Resultado do Tratamento
17.
Ann Thorac Surg ; 79(3): 767-71, 2005 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-15734373

RESUMO

BACKGROUND: To evaluate the short and long-term results of cryopreserved aortic viable homograft (CAVH) in the treatment of active aortic endocarditis. METHODS: From January 1992 to December 2002, 104 patients (23 females, 81 males) with a mean age 51 +/- 13 years (from 14 to 77) underwent CAVH replacement for active aortic valve endocarditis. Seventy-six patients (73%) had endocarditis of the native aortic valve, 28 (27%) had endocarditis of prosthetic aortic valve; among them, eight had a recurrent infection. Eighty-three patients (80%) had isolated aortic endocarditis. Plurivalvular endocarditis was observed in 21 (20%) patients, (aortic and mitral in 16 patients, aortic and tricuspid in 5). Intraoperative transesophageal echocardiography was systematically used. Anatomical lesions included perforations in 89 (86%) patients, vegetations in 79 (77%) patients and periannular extensions in 60 (58%) patients. Precise bacteriologic diagnosis was available in 82 (80%) patients. RESULTS: Cryopreserved aortic viable homografts were inserted using the aortic root replacement technique in 93 (89%) patients and the subcoronary technique in 11 (11%) patients. Associated procedures were performed in 38 (37%) patients: mitral (n = 23) and tricuspid (n = 3) valve repair, partial homograft mitral valve replacement (n = 3), partial homograft tricuspid valve replacement (n = 3), coronary bypass graft (n = 3), and ascending aorta replacement (n = 3). Hospital mortality was 5 (5%) patients. Causes of death included: myocardial infarction (n = 2), myocardial failure (n = 2), and multiorgan failure (n = 1). During follow-up (61 +/- 36 months, from 6 months to 136 months), 9 secondary deaths occurred (2 were cardiac related), 14 aortic valvular redo surgeries were performed (2 for nonstructural failure, 6 for structural failure, and 6 for endocarditis). Actuarial survival at ten years was 83%, with 93% of the patients free from cardiac death. At ten years, actuarial rate for freedom from reoperation was 76% and freedom from recurrent endocarditis was 93%. No thromboembolic complications were observed. CONCLUSIONS: The CAVH has proven its effectiveness in treating the destructive lesions of active aortic endocarditis. It has provided satisfactory immediate and long-term results. Allowing the possibility to avoid a prosthetic material, CAVH could represent an option for surgically treating active aortic endocarditis more rapidly.


Assuntos
Valva Aórtica/transplante , Criopreservação , Endocardite Bacteriana/cirurgia , Adolescente , Adulto , Idoso , Feminino , Seguimentos , Próteses Valvulares Cardíacas , Humanos , Masculino , Pessoa de Meia-Idade , Infecções Relacionadas à Prótese/cirurgia , Fatores de Tempo
18.
Eur J Cardiothorac Surg ; 26(6): 1169-73, 2004 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-15541979

RESUMO

OBJECTIVE: Fulminant myocarditis (FM) is uncommon and may be followed by a rapidly intractable cardiogenic shock. We report five consecutive patients with FM successfully bridged to recovery with a mechanical paracorporel biventricular assist device (BiVAD). METHODS: Five patients, four adults and one child (mean age 27+/-6 years, range, 5-36 years) underwent implantation from November 1999 to May 2003, for FM. Prior to implantation, all patients required maximal inotropic support, three of them had an intra-aortic balloon pump, the child had an extra-corporel membrane oxygenation (ECMO) support previously inserted in another institution. Cardiac catheterisation showed a mean CPW of 37+/-1 mmHg, mean CVP 18+/-2 mmHg, and mean CI 1.7+/-0.1l/min. Echocardiogram showed a severe biventricular hypokinesia, without any ventricular dilatation and a mean LVEF at 12.5%. Two patients were implanted in cardiac arrest under external cardiac resuscitation. All patients underwent BiVAD implantation (MEDOS HIA-VAD). A 72 ml right paracorporel ventricle (a 23 ml in the child) was instituted between the double stage venous canula used during CPB and a pulmonary artery outflow canula. A 80 ml left paracorporel ventricle (a 25 ml in the child) was instituted between a left ventricle apical canula and an aorta outflow canula. RESULTS: There was no death. The mean duration support time was 11+/-6 days (from 7 to 21 days). Two patients experienced transitory deficiency due to a stroke. Four patients showed signs of FM on histological findings. Despite serologic examination and viral genome research on myocardial biopsies, pathogenic agents were not identified. At mean follow-up of 31+/-15 months, all the patients fully recovered with a mean LVEF=60% and no left ventricular dilatation. CONCLUSIONS: In FM with intractable cardiogenic shock, the use of a BiVAD as a bridge to recovery is a life saving approach and should be considered before multi-end organ failure.


Assuntos
Coração Auxiliar , Miocardite/cirurgia , Adulto , Pré-Escolar , Desenho de Equipamento , Circulação Extracorpórea/métodos , Feminino , Humanos , Balão Intra-Aórtico/métodos , Masculino , Miocardite/complicações , Complicações Pós-Operatórias/etiologia , Reoperação , Choque Cardiogênico/complicações , Choque Cardiogênico/cirurgia , Resultado do Tratamento , Função Ventricular Esquerda/fisiologia
19.
Crit Care Med ; 32(9): 1957-9, 2004 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-15343026

RESUMO

UNLABELLED: We report the usefulness of biventricular mechanical circulatory support in a 36-yr-old woman with refractory myocardial dysfunction resulting from scombroid poisoning. DESIGN: Case report. SETTING: Medical and surgical university care units. PATIENT: A previously healthy 36-yr-old woman with severe myocardial dysfunction unresponsive to epinephrine (1.3 microg/kg/min) and dobutamine (18 microg/kg/min) after the ingestion of cooked fresh tuna. INTERVENTION: Implantation at day 3 of a biventricular assist device consisting of two paracorporeal pneumatic pumps set at 70 beats/min to reach an output of 5.6 L/min during 8 days. MAIN RESULTS: The biventricular mechanical circulatory assist device allowed weaning of the inotropic drugs, maintenance of end-organ function, and support of the patient until myocardial recovery. The patient was successfully explanted 11 days after ingestion. Cardiac function had totally recovered, but a stroke was noted. At 3-yrs follow-up, there was no cardiac or neurologic sequela. CONCLUSIONS: This report describes severe myocardial dysfunction secondary to scombroid poisoning and demonstrates the usefulness of a mechanical circulatory assist device as a bridge to recovery.


Assuntos
Doenças Transmitidas por Alimentos/complicações , Coração Auxiliar , Toxinas Marinhas/intoxicação , Choque Cardiogênico/etiologia , Choque Cardiogênico/terapia , Adulto , Feminino , Humanos , Choque Cardiogênico/fisiopatologia
20.
Blood Cells Mol Dis ; 33(2): 120-4, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15315789

RESUMO

Hemochromatosis is a heterogeneous genetic disease. Juvenile hemochromatosis is a severe rare recessive autosomal disease. Herein, we report a consanguineous family linked to a mutation in the recently identified HJV gene. A refractory cardiogenic shock had revealed hemochromatosis in the proband, a 26-year-old woman, and led to the death by heart failure. Regular phlebotomies in her young sister, which was also affected, had allowed to prevent the severe complications of the disease. These two affected subjects presented an identical homozygous haplotype at the 1q21 chromosome region and a missense homozygous mutation at the HJV gene (Arg288 > Trp). This observation underlines the importance of HJV genetic testing, by complete screening of the gene, in young patients with abnormal iron parameters and hypogonadism and/or cardiac symptoms to prevent death from cardiac complications.


Assuntos
Hemocromatose/diagnóstico , Proteínas de Membrana/genética , Choque Cardiogênico/etiologia , Adulto , Éxons , Evolução Fatal , Feminino , Proteínas Ligadas por GPI , Hemocromatose/genética , Proteína da Hemocromatose , Homozigoto , Humanos , Masculino , Linhagem , Reação em Cadeia da Polimerase , Deleção de Sequência
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