Aggravating factors associated with the severity of aortic regurgitation and clinical characteristics of patients with quadricuspid aortic valve.

BACKGROUND AND AIM OF THE STUDY: Quadricuspid aortic valve (QAV) is a rare congenital anomaly. Aortic regurgitation (AR) has been suggested to be the major functional abnormality of QAV. The study aim was to define the clinical characteristics of patients with QAV through echocardiography, thereby identifying factors related to the severity of AR. METHODS: Patients diagnosed with QAV by echocardiography were enrolled from electronic medical records obtained between November 1994 and May 2012. RESULTS: Twenty-six patients diagnosed with QAV were identified. AR was present in 20 of these patients (77%), among which 12 (46%) exhibited significant AR. Aortic stenosis was rare (n = 1; 4%). Patient age and severity of AR were weakly correlated. The most frequent valve morphology type was three equally sized cusps and one smaller cusp (n = 12; 46%), followed by two larger, equally sized cusps and two smaller, equally sized cusps (n = 6; 23%). The latter morphology type was accompanied by a high prevalence of significant AR (5/6; 83%). The initial clinical symptoms of the patients included dyspnea and chest pain (n = 14; 54%), other congenital abnormalities (n = 4; 15%), and arrhythmias (n = 4; 15%). Among the patients with significant AR, 10 were symptomatic. CONCLUSION: Approximately half of the patients with QAV had significant AR at the time of initial diagnosis by echocardiography. The severity of AR appeared to be correlated with patient age and valve morphology. These factors should be considered during echocardiographic assessment and follow up treatment for QAV.

Comparative measurement of aortic root by transthoracic echocardiography in normal Korean population based on two different guidelines.

BACKGROUND: Aortic root size is an important parameter in vascular diseases and can be easily assessed by transthoracic echocardiography. However, measurements values may vary according to cardiac cycle and the definition used for edge. This study aimed to define normal values according to the measurement method specified by two different guidelines to determine the influence of the different methods on echocardiographic measurements. METHODS: Healthy Korean adults were enrolled. The aortic root diameters were measured twice at four levels (aortic annulus, sinuses of Valsalva, sinotubular junction, and ascending aorta) by the 2005 American Society of Echocardiography (ASE) guidelines (measured from leading edge to leading edge during diastole) and the 2010 ASE pediatric guidelines (measured from inner edge to inner edge during systole). RESULTS: One hundred twelve subjects aged 20-69 years were enrolled. The aortic diameters (cm) determine by the aforementioned two guidelines showed significant difference. Measurements were larger in 2005 ASE guideline at aortic annuls, sinuses of Valsalva, and sinotubular junction level, but smaller at ascending aortic level with 2-3mm of differences. Intraobserver variability was similarly good, but interobserver variability was slightly higher than intraobserver variability in both measurement methods. BSA and age was most important determinant for aortic root size. CONCLUSIONS: The measurement method of aortic root can affect the echocardiographic result. The measurement method should be noted when assessing clinical significance of aortic root measurement.

Genetic mutation in Korean patients of sudden cardiac arrest as a surrogating marker of idiopathic ventricular arrhythmia.

Mutation or common intronic variants in cardiac ion channel genes have been suggested to be associated with sudden cardiac death caused by idiopathic ventricular tachyarrhythmia. This study aimed to find mutations in cardiac ion channel genes of Korean sudden cardiac arrest patients with structurally normal heart and to verify association between common genetic variation in cardiac ion channel and sudden cardiac arrest by idiopathic ventricular tachyarrhythmia in Koreans. Study participants were Korean survivors of sudden cardiac arrest caused by idiopathic ventricular tachycardia or fibrillation. All coding exons of the SCN5A, KCNQ1, and KCNH2 genes were analyzed by Sanger sequencing. Fifteen survivors of sudden cardiac arrest were included. Three male patients had mutations in SCN5A gene and none in KCNQ1 and KCNH2 genes. Intronic variant (rs2283222) in KCNQ1 gene showed significant association with sudden cardiac arrest (OR 4.05). Four male sudden cardiac arrest survivors had intronic variant (rs11720524) in SCN5A gene. None of female survivors of sudden cardiac arrest had SCN5A gene mutations despite similar frequencies of intronic variants between males and females in 55 normal controls. Common intronic variant in KCNQ1 gene is associated with sudden cardiac arrest caused by idiopathic ventricular tachyarrhythmia in Koreans.

Predictive factors related to progression toward rheumatoid arthritis in Korean patients with undifferentiated arthritis.

Some patients with undifferentiated arthritis (UA) experience spontaneous remission; however, one-third of patients progress to rheumatoid arthritis (RA) in the final process of the disease. This study evaluated clinical variables in order to find a prediction model that could predict the development of RA in patients with UA. The medical records of 164 patients, who were initially diagnosed with undifferentiated arthritis in Yonsei University Medical Center from January 2004 to December 2007, were retrospectively reviewed. They were followed up for at least 6 months. The clinical variables related to the development of RA were identified by univariate analyses. Using logistic regression analysis, the prediction model was made and the diagnostic performance of the model was evaluated. Thirty-two patients of the 164 total patients progressed to RA during the follow-up period. The prediction model was composed of clinical factors including the duration of morning stiffness, the number of tender joints, the number of swollen joints, C-reactive protein level, rheumatoid factor, anti-cyclic citrullinated peptide antibody, and erosive change on baseline X-ray. The prediction score ranged from 0 to 10. All of the patients with a higher prediction score greater than five experienced RA progression. The area under the curve value for the prediction rule was 0.976. The prediction model could predict progression to RA in patients with UA. It especially helps the clinician to decide on a management plan for patients with a high prediction score.

Efficacy and Safety of Regorafenib in Korean Patients with Advanced Gastrointestinal Stromal Tumor after Failure of Imatinib and Sunitinib: A Multicenter Study Based on the Management Access Program.

PURPOSE: The aim of this study was to confirm the efficacy and safety of regorafenib for advanced gastrointestinal stromal tumors (GISTs) reported in the GRID phase III trial in Korean patients. MATERIALS AND METHODS: Fifty-seven Korean patientswith advanced GISTwho experienced both imatinib and sunitinib failure were enrolled in the management access program between December 2012 and November 2013 and treated with regorafenib (160 mg orally once daily in a 3 weeks on/1 week off). RESULTS: None of the patients achieved a complete or partial response while 25 patients (44%) showed stable disease for ≥ 12 weeks. With a median follow-up of 12.7 months (range, 0.2 to 27.6 months), the median progression-free survival and overall survival were 4.5 months (95% confidence interval [CI], 3.8 to 5.3) and 12.9 months (95% CI, 8.1 to 17.7), respectively. Interestingly, 15 patients (26%) experienced an exacerbation of their cancer-related symptoms (abdominal pain in eight and abdominal distension in five) during the rest period for regorafenib, but all were ameliorated upon the resumption of regorafenib. The most common grade 3 or 4 adverse event was a hand-foot skin reaction (25%). The regorafenib dose was reduced in 44 patients (77%) due to toxicity, which manifested mainly as a hand-foot skin reaction (n=31). CONCLUSION: This study confirmed the efficacy and safety of regorafenib for advanced GIST after imatinib and sunitinib failure in Korean patients. Considering the exacerbation of the cancer-related symptoms observed during the rest periods, further exploration of the continuous dosing schedule of regorafenib is warranted in future clinical trials.

Prognosis after implantation of cardioverter-defibrillators in Korean patients with Brugada syndrome.

PURPOSE: Our study aims to analyze prognosis after implantable cardioverter-defibrillator (ICD) implantation in Korean patients with Brugada syndrome (BrS). MATERIALS AND METHODS: This was a retrospective study of BrS patients implanted with an ICD at one of four centers in Korea between January 1998 and April 2012. Sixty-nine patients (68 males, 1 female) were implanted with an ICD based on aborted cardiac arrest (n=38, 55%), history of syncope (n=17, 25%), or induced ventricular tachyarrhythmia on electrophysiologic study in asymptomatic patients (n=14, 20%). A family history of sudden cardiac death and a spontaneous type 1 electrocardiography (ECG) were noted in 13 patients (19%) and 44 patients (64%), respectively. RESULTS: During a mean follow-up of 59±46 months, 4.6±5.5 appropriate shocks were delivered in 19 patients (28%). Fourteen patients (20%) experienced 5.2±8.0 inappropriate shocks caused by supraventricular arrhythmia, lead failure, or abnormal sensing. Six patients were admitted for cardiac causes during follow-up, but no cardiac deaths occurred. An episode of aborted cardiac arrest was a significant predictor of appropriate shock, and the composite of cardiac events in the Cox proportional hazard model [hazard ratio (95% confidence interval) was 11.34 (1.31-97.94) and 4.78 (1.41-16.22), respectively]. However, a spontaneous type 1 ECG was not a predictor of cardiac events. CONCLUSION: Appropriate shock (28%) and inappropriate shock (20%) were noted during a mean follow-up of 59±46 months in Korean BrS patients implanted with an ICD. An episode of aborted cardiac arrest was the most powerful predictor of cardiac events.

Inflammatory polyarthritis in a patient with psoriasis: is it psoriatic arthritis or rheumatoid arthritis?

Psoriatic arthritis (PsA) is an inflammatory arthritis associated with psoriasis. There are no generally accepted diagnostic criteria for PsA. Indeed, the diagnosis of this inflammatory arthritis is made by exclusion of other possible diseases and based upon immunologic, radiologic, and clinical features which are consistent with the diagnosis. Inflammatory arthritis in a patient with psoriasis can be an important clue for the diagnosis of PsA, but the possibility for diagnosis of other inflammatory arthritides ever remains. Herein we report a case of a female patient who was not diagnosed with PsA, but with rheumatoid arthritis, even though she had psoriasis.