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1.
Article Dans Anglais | WPRIM | ID: wpr-917281

Résumé

The prevalence of heart failure (HF) is on the rise due to the aging of society. Furthermore, the continuous progress and widespread adoption of screening and diagnostic strategies have led to an increase in the detection rate of HF, effectively increasing the number of patients requiring monitoring and treatment. Because HF is associated with substantial rates of mortality and morbidity, as well as high socioeconomic burden, there is an increasing need for developing specific guidelines for HF management. The Korean guidelines for the diagnosis and management of chronic HF were introduced in March 2016. However, chronic and acute heart failure (AHF) represent distinct disease entities. Here, we introduce the Korean guidelines for the management of AHF with reduced or preserved ejection fraction. Part I of this guideline covers the definition, epidemiology, and diagnosis of AHF.

2.
Article Dans Anglais | WPRIM | ID: wpr-759393

Résumé

The prevalence of heart failure (HF) is on the rise due to the aging of society. Furthermore, the continuous progress and widespread adoption of screening and diagnostic strategies have led to an increase in the detection rate of HF, effectively increasing the number of patients requiring monitoring and treatment. Because HF is associated with substantial rates of mortality and morbidity, as well as high socioeconomic burden, there is an increasing need for developing specific guidelines for HF management. The Korean guidelines for the diagnosis and management of chronic HF were introduced in March 2016. However, chronic and acute heart failure (AHF) represent distinct disease entities. Here, we introduce the Korean guidelines for the management of AHF with reduced or preserved ejection fraction. Part I of this guideline covers the definition, epidemiology, and diagnosis of AHF.


Sujets)
Humains , Vieillissement , Diagnostic , Épidémiologie , Défaillance cardiaque , Coeur , Dépistage de masse , Mortalité , Prévalence
3.
Korean Circulation Journal ; : 555-643, 2017.
Article Dans Anglais | WPRIM | ID: wpr-122501

Résumé

The prevalence of heart failure (HF) is skyrocketing worldwide, and is closely associated with serious morbidity and mortality. In particular, HF is one of the main causes for the hospitalization and mortality in elderly individuals. Korea also has these epidemiological problems, and HF is responsible for huge socioeconomic burden. However, there has been no clinical guideline for HF management in Korea. 
The present guideline provides the first set of practical guidelines for the management of HF in Korea and was developed using the guideline adaptation process while including as many data from Korean studies as possible. The scope of the present guideline includes the definition, diagnosis, and treatment of chronic HF with reduced/preserved ejection fraction of various etiologies.


Sujets)
Sujet âgé , Humains , Diagnostic , Défaillance cardiaque , Coeur , Hospitalisation , Corée , Mortalité , Prévalence
4.
Korean Circulation Journal ; : 776-785, 2017.
Article Dans Anglais | WPRIM | ID: wpr-78946

Résumé

BACKGROUND AND OBJECTIVES: Trapped thrombus in patent foramen ovale (PFO) is a rare complication of pulmonary embolism that may lead to tragic clinical events. The aim of this study was to identify the optimal treatment for different clinical situations in patients with trapped thrombus in a PFO by conducting a literature review. SUBJECTS AND METHODS: A PubMed database search was conducted from 1991 through 2015, and 194 patients (185 articles) with trapped thrombus in a PFO were identified. Patient characteristics, paradoxical embolic events, and factors affecting 60-day mortality were analyzed retrospectively. RESULTS: Among all patients, 112 (57.7%) were treated with surgery, 28 with thrombolysis, and 54 with anticoagulation alone. Dyspnea (79.4%), chest pain (33.0%), and syncope (17.5%) were the most common presenting symptoms. Pretreatment embolism was found in 37.6% of cases, and stroke (24.7%) was the most common event. Surgery was associated with fewer post-treatment embolic events than were other treatment options (p=0.044). In the multivariate analysis, initial shock or arrest, and thrombolysis were independent predictors of 60-day mortality. Thrombolysis was related with higher 60-day mortality compared with surgery in patients who had no initial shock or arrest. CONCLUSION: This systematic review showed that surgery was associated with a lower overall incidence of post-treatment embolic events and a lower 60-day mortality in patients with trapped thrombus in a PFO. In patients without initial shock or arrest, thrombolysis was related with a higher 60-day mortality compared with surgery.


Sujets)
Humains , Douleur thoracique , Dyspnée , Embolie , Foramen ovale perméable , Incidence , Mortalité , Analyse multifactorielle , Embolie pulmonaire , Études rétrospectives , Choc , Accident vasculaire cérébral , Syncope , Thrombose
5.
Article Dans Anglais | WPRIM | ID: wpr-156413

Résumé

Iatrogenic aortic dissection occurs in association with diverse invasive procedures. It occurs primarily as a complication of cardiac surgery or after catheterization procedure. We found a case of iatrogenic abdominal aortic dissection caused by traumatic needle injury. The patient complained of abdominal pain after balloon kyphoplasty. Abdominal computed tomography (CT) showed intramural hematoma with air density suggestive of an iatrogenic cause. The patient was managed conservatively, and no lesion progression was noted in the follow-up CT. To the best of our knowledge, this is the first case of iatrogenic aortic dissection associated with kyphoplasty.


Sujets)
Humains , Douleur abdominale , Cathétérisme , Cathéters , Études de suivi , Hématome , Cyphoplastie , Aiguilles , Chirurgie thoracique
6.
Article Dans Anglais | WPRIM | ID: wpr-20474

Résumé

BACKGROUND: The non-invasive differentiation of ischemic and nonischemic acute heart failure (AHF) not resulting from acute myocardial infarction is difficult and has therapeutic and prognostic implications. The aim of this study was to assess whether resting myocardial contrast echocardiography (MCE) can detect coronary artery disease (CAD) in patients with decreased left ventricular (LV) systolic function and global hypokinesis presenting with AHF. METHODS: Twenty-one consecutive patients underwent low-power real-time MCE based on color-coded pulse inversion Doppler. Standard apical LV views were acquired during contrast IV infusion of Definity(R). Following transient microbubbles destruction, the contrast replenishment rate (beta), reflecting myocardial blood flow velocity, was derived by plotting signal intensity vs. time and fitting data to the exponential function: y (t) = A (1 - e(-beta(t-t0))) + C. RESULTS: Of the 21 (mean age 56.6 +/- 13.6 years) patients, 5 (23.8%) demonstrated flow-limiting CAD (> 70% of luminal diameter narrowing). The mean +/- standard deviation of LV ejection fraction was 29.6 +/- 8.6%. Quantitative MCE analysis was feasible in 258 of 378 segments (68.3%). There were no significant difference in "beta" and "Abeta" in patients without and with CAD (0.48 +/- 0.27 vs. 0.45 +/- 0.25, p = 0.453 for beta and 2.99 +/- 2.23 vs. 3.68 +/- 3.13, p = 0.059 for Abeta, respectively). No contrast-related side effects were reported. CONCLUSION: Resting quantitative MCE analysis in patients with AHF was feasible, however, the parameters did not aid in detecting of CAD.


Sujets)
Humains , Vitesse du flux sanguin , Maladie des artères coronaires , Maladie coronarienne , Diagnostic , Échocardiographie , Défaillance cardiaque , Microbulles , Infarctus du myocarde , Phénobarbital , Projets pilotes
7.
Korean Circulation Journal ; : 340-342, 2013.
Article Dans Anglais | WPRIM | ID: wpr-227416

Résumé

We describe a 64-year-old male patient with panhypopituitarism who experienced polymorphic ventricular tachycardia (VT) associated with long QT intervals. The panhypopituitarism developed as a sequelae of radiation therapy administered 20 years prior to his current presentation and was recently aggravated by urinary tract infection with sepsis. In this case, polymorphic VT was resistant to conventional therapy (including magnesium infusion), and QT prolongation and T wave inversion were normalized after the administration of steroid and thyroid hormones. Thyroid hormone is generally known to be associated with torsades de pointes (TdP), but steroid or other hormones may also provoke TdP. Hormonal disorders should be considered as a cause of polymorphic VT with long QT intervals. Some arrhythmias can be life-threatening, and they can be prevented with supplementation of the insufficient hormone.


Sujets)
Humains , Mâle , Troubles du rythme cardiaque , Hypopituitarisme , Syndrome du QT long , Magnésium , Sepsie , Tachycardie ventriculaire , Glande thyroide , Hormones thyroïdiennes , Torsades de pointes , Infections urinaires
8.
Article Dans Anglais | WPRIM | ID: wpr-175087

Résumé

Dilated cardiomyopathy (DCM) is usually an idiopathic disease with a poor prognosis. Hypocalcemia is a rare and reversible cause of DCM. Here, we report a 50-year-old female with DCM, induced by idiopathic hypoparathyroidism, that improved after treatment with calcium.


Sujets)
Femelle , Humains , Adulte d'âge moyen , Calcium/administration et posologie , Cardiomyopathie dilatée/diagnostic , Compléments alimentaires , Électrocardiographie , Hypocalcémie/diagnostic , Hypoparathyroïdie/complications , Récupération fonctionnelle , Résultat thérapeutique , Vitamine D/administration et posologie
9.
Korean Journal of Medicine ; : 194-199, 2012.
Article Dans Coréen | WPRIM | ID: wpr-208722

Résumé

BACKGROUND/AIMS: Unlike pleural effusions or ascites, few studies have examined the role of chemical and cell-count parameters in the etiologic diagnosis of pericardial effusion. We determined the cut-off points of chemical parameters that can differentiate the causes of pericardial effusion. METHODS: This study included 45 patients who underwent pericardiocentesis from 2003 to 2010. We examined the cell count and chemistry of blood and pericardial fluid, and divided the patients into a systemic group (the pericardium and myocardium were not invaded directly, such as in uremia and hypothyroidism) and a local inflammation group (the pericardium or myocardium was involved directly, such as in malignancy, tuberculosis, infection, and connective tissue disease). RESULTS: Common causes of pericardial effusion requiring pericardiocentesis were malignancy (42.8%), iatrogenic (11.9%), and tuberculosis (9.5%). The pericardial lactate dehydrogenase (LDH) level and pericardial/serum (P/S) LDH ratio were higher in the local inflammation group than the systemic group (288.33 +/- 143.9 vs. 2,372.07 +/- 3,916.00 IU/L, p = 0.002, and 5.7 vs. 0.6, p = 0.007, respectively). The discrimination accuracy of the P/S LDH ratio (1.12) and pericardial fluid LDH level (435 IU/L) for predicting local inflammation was significant, as evidenced by the respective areas under the receiver operating characteristic curves of 0.84 (sensitivity 81.4%, specificity 81.5%) and 0.88 (sensitivity 83.3%, specificity 81.5%). CONCLUSIONS: The LDH level (435 IU/L) of pericardial fluid and P/S LDH ratio (1.12) in patients with a pericardial effusion can help to differentiate between systemic causes and other diseases directly involving the pericardium.


Sujets)
Humains , Ascites , Numération cellulaire , Tissu conjonctif , , Inflammation , L-Lactate dehydrogenase , Acide lactique , Myocarde , Épanchement péricardique , Péricardiocentèse , Péricarde , Épanchement pleural , Courbe ROC , Sensibilité et spécificité , Tuberculose , Urémie
10.
Article Dans Anglais | WPRIM | ID: wpr-148184

Résumé

BACKGROUND/AIMS: Right ventricular dysfunction (RVD) is associated with poor prognosis in patients with acute pulmonary embolism (APE). Echocardiography and computed tomography (CT)-angiography may be difficult to perform in a serial follow up, unlike electrocardiography (ECG). Many ECG findings specific for APE have been reported, and many studies have found that negative T-waves (NTW) in precordial leads are most frequently observed in patients with APE. We analyzed serial changes in precordial NTW to detect RVD and predict the recovery of RVD in patients with APE. METHODS: We examined 81 consecutive patients diagnosed with APE using CT-angiography or echocardiography. ECG, transthoracic echocardiography, and laboratory tests were performed within 24 hours of admission, and daily ECG follow-up was performed. Precordial NTWs were defined by the new development of pointed and symmetrical inverted T-waves in at least three leads. Recovery of NTW was defined as flattening or upright inverted T-waves in more than two leads. RESULTS: Of the 81 patients with APE, 52 (64%) had RVD according to echocardiography. Among the patients with RVD, 33 (63%) showed precordial NTW. The multivariate logistic regression analysis revealed that NTW was the strongest independent predictor for RVD (odds ratio, 22.8; 95% confidence interval, 2.4 to 221.4; p = 0.007). Time to normalization of NTW was associated with improvement of RVD on echocardiography (r = 0.84, p < 0.01). CONCLUSIONS: Precordial NTW was a reliable finding to identify RVD in patients with APE. Improvements in RVD can be predicted by normalizing precordial NTW.


Sujets)
Sujet âgé , Sujet âgé de 80 ans ou plus , Femelle , Humains , Mâle , Adulte d'âge moyen , Maladie aigüe , Loi du khi-deux , Échocardiographie , Électrocardiographie , Modèles logistiques , Analyse multifactorielle , Odds ratio , Valeur prédictive des tests , Pronostic , Embolie pulmonaire/complications , Récupération fonctionnelle , République de Corée , Facteurs temps , Tomodensitométrie , Dysfonction ventriculaire droite/complications , Fonction ventriculaire droite
11.
Article Dans Anglais | WPRIM | ID: wpr-224109

Résumé

BACKGROUND AND OBJECTIVES: Patients without previous history of cardiac disease can be regarded as low-risk when undergoing major non-cardiac surgery. The aim of this study was to examine whether preoperative B-type natriuretic peptide (BNP) level predicted postoperative cardiac events in these patients. SUBJECTS AND METHODS: Preoperative BNP level was measured in 163 patients whose risk was considered low according to the Revised Cardiac Risk Index. Postoperative cardiac events, including death during hospitalization, myocardial injury, arrhythmia, cerebrovascular accidents and congestive heart failure were assessed. RESULTS: Postoperative cardiac events occurred in 8 patients (4.9%). Preoperative BNP levels were significantly higher among patients who experienced postoperative cardiac events, compared to those who did not (130.6+/-148.8 vs. 57.9+/-70.8 pg/mL, p=0.009). CONCLUSION: Preoperative BNP level may provide prognostic information in low-risk patients undergoing major non-cardiac surgery.


Sujets)
Humains , Troubles du rythme cardiaque , Maladies cardiovasculaires , Cardiopathies , Défaillance cardiaque , Hospitalisation , Peptide natriurétique cérébral , Soins périopératoires , Accident vasculaire cérébral
12.
Korean Journal of Medicine ; : 378-381, 2011.
Article Dans Coréen | WPRIM | ID: wpr-78407

Résumé

High cardiac output heart failure (HCOHF) occurs in the setting of increased cardiac output, such as with chronic anemia, hyperthyroidism, beriberi, pregnancy, and an arteriovenous (AV) fistula. Of these, chronic anemia is a rare cause of HCOHF and its pathophysiology remains unknown. This report is about a patient with chronic anemia who presented with heart failure and severe tricuspid regurgitation. The severity of the tricuspid regurgitation and the patient's symptoms and signs were improved on correcting the anemia.


Sujets)
Humains , Grossesse , Anémie , Béribéri , Débit cardiaque , Débit cardiaque élevé , Fistule , Coeur , Défaillance cardiaque , Hyperthyroïdie , Insuffisance tricuspide
13.
Korean Journal of Medicine ; : S152-S156, 2011.
Article Dans Coréen | WPRIM | ID: wpr-209167

Résumé

Plaque in the ascending aorta can be an important embolic source of stroke. Diagnostic tests for identifying embolic sources are critical for preventing the occurrence of other devastating complications before the initiation of treatment. Here, we report the case of a patient with mobile thrombi attached to the distal ascending aortic wall that were identified by transesophageal echocardiography (TEE). The mobile thrombi in the ascending aorta were treated with anticoagulants and statins. The TEE images we obtained for this case were noteworthy because complex atheromas of the ascending aorta are very rare.


Sujets)
Humains , Anticoagulants , Aorte , Tests diagnostiques courants , Échocardiographie transoesophagienne , Plaque d'athérosclérose , Accident vasculaire cérébral , Thrombose
14.
Korean Circulation Journal ; : 266-271, 2010.
Article Dans Anglais | WPRIM | ID: wpr-221282

Résumé

BACKGROUND AND OBJECTIVES: Heart failure rarely occurs in patients with thyrotoxicosis (6%), with half of the cases having left ventricular dysfunction (LVD). Although a few studies reported isolated right heart failure in thyrotoxicosis, there has been no evaluation of relationship between LVD and right ventricular dysfunction (RVD). SUBJECTS AND METHODS: We enrolled 12 patients (mean age: 51+/-11 years, 9 females) diagnosed as having thyrotoxicosis with heart failure and LVD {left ventricular ejection fraction (LVEF) <40%}, and divided them into two groups {Group I with RVD defined as tricuspid annular plane excursion (TAPSE) less than 15 mm and Group II without RVD}. Clinical features, laboratory variables, and echocardiographic parameters were compared between two groups. RESULTS: RVD was found in 6 (50%) patients. On admission, there were no significant differences between the two groups in clinical features, laboratory variables, or echocardiographic parameters including atrial fibrillation {6 vs. 5, not significant (NS)}, heart rate (149+/-38 vs. 148+/-32/min, NS), LVEF (36.7+/-9.5 vs. 35.1+/-6.3%, NS), or the tricuspid regurgitation peak pressure gradient (TRPPG, 30.9+/-2.0 vs. 36.3+/-9.3 mmHg, NS). After antithyroid treatment, all achieved an euthyroid state and both ventricular functions were recovered. All data, including the recovery time of LVEF and the change of heart rate between two groups, displayed no significant differences. CONCLUSION: In half of patients, RVD was combined with thyrotoxicosis-associated LVD. There were no differences in clinical factors or hemodynamic parameters between patients with and without RVD. This suggests that RVD is not secondary to thyrotoxicosis-associated LVD.


Sujets)
Humains , Fibrillation auriculaire , Défaillance cardiaque , Rythme cardiaque , Hémodynamique , Débit systolique , Thyréotoxicose , Insuffisance tricuspide , Dysfonction ventriculaire gauche , Dysfonction ventriculaire droite , Fonction ventriculaire
15.
Korean Circulation Journal ; : 536-538, 2010.
Article Dans Anglais | WPRIM | ID: wpr-23757

Résumé

It is rare to observe ST-segment elevation in only the anterior leads and not the inferior leads during right coronary artery occlusion. We describe a case with acute myocardial infarction (MI) by right coronary artery occlusion who developed ST-segment elevation only in the precordial leads V1 to V3.


Sujets)
Vaisseaux coronaires , Électrocardiographie , Infarctus du myocarde
16.
Korean Circulation Journal ; : 378-381, 2009.
Article Dans Anglais | WPRIM | ID: wpr-151433

Résumé

BACKGROUND AND OBJECTIVES: Right ventricular (RV) dysfunction is associated with a poor prognosis in patients with an acute pulmonary embolism (APE). We studied the role of electrocardiography and biomarkers for early detection and recovery of right ventricular dysfunction (RVD) in APE. SUBJECTS AND METHODS: The medical records of 48 consecutive patients diagnosed with APE using CT-angiography, at the Kangdong Sacred Heart Hospital, between January 2004 and February 2008 were reviewed retrospectively. RVD was assessed by serial echocardiography (ECG). Patients with one of the following were considered to have RVD: 1) RV dilatation (enddiastolic diameter >30 mm in the parasternal long axis view), 2) RV free wall hypokinesia, and 3) paradoxical septal systolic motion. We compared the electrocardiographic findings and the biomarkers for the early detection of RVD. RESULTS: The electrocardiographic findings showed T-wave inversion (TWI) in leads V1 to V3 with a sensitivity of 75% and a specificity of 95%, and a diagnostic accuracy of 80% for the detection of RVD, with positive and negative predictive values of 95.5% and 73.1%, respectively; these results were better than the biomarkers such as cardiac enzymes or B-type natriuretic peptide (BNP) for the early detection of RVD. TWIs persisted throughout the period of RVD, in contrast to a transient S1Q3T3 pattern detected during the acute phase only. CONCLUSION: TWIs in leads V1 to V3 had the greatest sensitivity and diagnostic accuracy for early detection of RVD, and normalization of the TWIs was associated with recovery of RVD in APE.


Sujets)
Humains , Axis , Marqueurs biologiques , Dilatation , Échocardiographie , Électrocardiographie , Coeur , Hominidae , Hypocinésie , Dossiers médicaux , Peptide natriurétique cérébral , Pronostic , Embolie pulmonaire , Études rétrospectives , Sensibilité et spécificité , Dysfonction ventriculaire droite
17.
Article Dans Anglais | WPRIM | ID: wpr-95334

Résumé

A 48-year-old woman visited the emergency department with shock due to a urinary tract infection. The patient, who had a history of hypertension and diabetes mellitus, presented with precordial ST-segment elevation and Q waves, along with an increase of cardiac enzymes. An echocardiography showed moderately reduced systolic function, severe apical left ventricular ballooning, and a dynamic left ventricular outflow tract obstruction with a pressure gradient of 109 mmHg. Coronary angiography demonstrated normal coronary arteries. At the 1-month echocardiographic follow-up, the apical ballooning and left ventricular systolic function had recovered completely. There was no residual left ventricular intra-cavity gradient at rest, but it was induced in low-dose dobutamine stress-echocardiography. We demonstrated that dynamic left midventricular obstruction in the setting of either increased catecholamine stress or hypovolemia could develop Tako-tsubo cardiomyopathy.


Sujets)
Femelle , Humains , Adulte d'âge moyen , Coronarographie , Vaisseaux coronaires , Diabète , Dobutamine , Échocardiographie , Échocardiographie de stress , Urgences , Études de suivi , Hypertension artérielle , Hypovolémie , Choc , Syndrome de tako-tsubo , Infections urinaires , Obstacle à l'éjection ventriculaire
18.
Article Dans Anglais | WPRIM | ID: wpr-211093

Résumé

BACKGROUND: Spontaneous echo contrast (SEC) has been considered as a predisposition to thromboembolism and cerebrovascular accident. However, there have been few reports on the prevalence and role of SEC in dilated cardiomyopathy (DCM). The aim of this study was to investigate the prognostic usefulness of SEC in predicting a stroke in patients with DCM. METHODS: Between October 2001 and January 2008, transthoracic echocardiography with tissue harmonic imaging (THI) was performed for recognition of SEC in patients with DCM. Patients were divided into 2 groups according to the presence of SEC. Clinical characteristic data, echocardiographic parameters were compared between two groups. RESULTS: In this retrospective study, 220 patients (136 men, age 62.8+/-15.4 years) with DCM (left ventricular ejection fraction 27.8+/-7.8%) were included. SEC in the left ventricle (LV) was observed in 24 patients (10.9%). Stroke occurred in 4 (16.7%) of patients with SEC and in 9 (4.6%) of patients without SEC. There were no differences in LA dimension (p=0.24) and LV end-diastolic dimension (p=0.88) between both groups. On univariate analysis, SEC and coronary heart disease at presentation had statistical significance of risk factors for stroke in these groups (p<0.05). On multivariate analysis, only SEC was an independent predictor for stroke (OR 4.393, 95% CI 1.116-17.290, p=0.03). CONCLUSION: These results suggest that SEC by THI through transthoracic echocardiography has a strong association with stroke in patients with DCM. Therefore, this study may help in the risk stratification of cardiac embolism in patients with DCM.


Sujets)
Humains , Mâle , Cardiomyopathie dilatée , Maladie coronarienne , Échocardiographie , Embolie , Ventricules cardiaques , Analyse multifactorielle , Prévalence , Études rétrospectives , Facteurs de risque , Accident vasculaire cérébral , Débit systolique , Thromboembolie
19.
Korean Journal of Medicine ; : 584-588, 2009.
Article Dans Coréen | WPRIM | ID: wpr-211075

Résumé

Thyroid hormone has many effects on the heart and vascular system. Cardiovascular manifestations of excess thyroid hormone are variable, and include enhanced cardiac contractility, enhanced oxygen myocardial consumption, and reduced systemic vascular resistance. Sinus tachycardia, atrial fibrillation, heart failure, and angina pectoris are common clinical manifestations, while right heart failure without severe left heart failure is rare in patients with hyperthyroidism. In addition, ventricular fibrillation may occur in thyrotoxic patients due to myocardial ischemia, such as in variant angina. This case report describes a young woman who presented with right heart failure and variant angina, whose only concurrent illness was hyperthyroidism. The symptoms and sign of right heart failure improved on treating the hyperthyroidism.


Sujets)
Femelle , Humains , Angine de poitrine , Fibrillation auriculaire , Coeur , Défaillance cardiaque , Hyperthyroïdie , Ischémie myocardique , Oxygène , Tachycardie sinusale , Glande thyroide , Résistance vasculaire , Fibrillation ventriculaire
20.
Article Dans Anglais | WPRIM | ID: wpr-18352

Résumé

Danon disease is characterized clinically by the triad of cardiomyopathy, myopathy and mental retardation. It was originally reported as a lysosomal glycogen storage disease with normal acid maltase by Danon. Danon disease results from mutations in lysosome associated membrane protein-2 (LAMP-2) gene. The LAMP-2 gene is located on Xq24-25. We report a case of suspected Danon disease in patient who had hypertrophic cardiomyopathy and mental retardation along with abnormal findings in electromyography.


Sujets)
Humains , alpha-Glucosidase , Cardiomyopathies , Cardiomyopathie hypertrophique , Glycogénose , Glycogénose de type IIb , Déficience intellectuelle , Lysosomes , Membranes , Maladies musculaires
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