Long QT syndrome (LQTS) is a rare cardiac channelopathy associated with syncope and sudden death due to torsades de pointes and ventricular fibrillation. Syncope and sudden death are frequently associated with physical and emotional stress. Management of patients with LQTS consists of life-style modification, β-blockers, left cardiac sympathetic denervation (LCSD), and implantable cardioverter-defibrillator (ICD) implantation. Prohibition of competitive exercise and avoidance of QT-prolonging drugs are important issues in life-style modification. Although β-blockers are the primary treatment modality for patients with LQTS, these drugs are not completely effective in some patients. Lifelong ICD implantation in young and active patients is associated with significant complications. LCSD is a relatively simple and highly effective surgical procedure. However, LCSD is rarely used.
Channelopathies ; Death, Sudden ; Defibrillators, Implantable ; Humans ; Long QT Syndrome* ; Stress, Psychological ; Sympathectomy ; Syncope ; Torsades de Pointes ; Ventricular Fibrillation

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is characterized by rogressive, fibrofatty replacement of the myocardium, ventricular arrhythmia, sudden death, and progressive heart failure. ARVC/D may be an important cause of syncope, ventricular arrhythmias, electrocardiogram (ECG) abnormalities and/or non-ischemic wall motion abnormalities. Some patients, however, do not have a typical clinical presentation. Thus, a high clinical suspicion and extensive studies may be needed to establish the diagnosis of ARVC/D. Recent progress in diagnostic modalities and a better understanding of the clinical manifestations of ARVC/D may lead to optimal management of affected patients.
Arrhythmias, Cardiac ; Cardiomyopathies ; Death, Sudden ; Electrocardiography ; Heart Failure ; Heart Ventricles ; Humans ; Myocardium ; Syncope

Sexual activity (SA), combined with organic heart disease, may cause sudden death (SD). However, the causes of SD related to SA are not known well. The aim of this study was to assess the causes of SD related to SA. From August 2001 to November 2005, all autopsies (n=1,379) performed at Kyungpook National University were prospectively searched for SD cases related to SA. Fourteen cases (46+/-11 yr old, 9 males) of SD related to SA were found. All were heterosexual. The toxicologic study was negative in all. Ten cases were witnessed; during SA in 4 cases, just after SA in another 4 cases, 2 and 5 hr after in 1 each case. In 4 unwitnessed cases the victims were found dead less than 12 hr from the end of their SA. The partners were steady extramarital partners (n=8), prostitutes (n=2), marital partner (n=1) and unknown (n=3). The causes of the SD were as follows; coronary artery disease in 6, subarachnoid hemorrhage with ruptured berry aneurysm in 4, fibromuscular dysplasia of the atrioventricular nodal artery in 2, and unknown in 2. Coronary artery disease and subarachnoid hemorrhage with ruptured berry aneurysm were important as causes of SD related to SA.
Sexual Behavior/*statistics & numerical data ; Risk Assessment/*methods ; Prevalence ; Middle Aged ; Male ; Korea/epidemiology ; Humans ; Heart Diseases/*mortality ; Female ; Death, Sudden/*epidemiology ; Comorbidity ; Cause of Death ; Autopsy ; Adult

Sexual activity (SA), combined with organic heart disease, may cause sudden death (SD). However, the causes of SD related to SA are not known well. The aim of this study was to assess the causes of SD related to SA. From August 2001 to November 2005, all autopsies (n=1,379) performed at Kyungpook National University were prospectively searched for SD cases related to SA. Fourteen cases (46+/-11 yr old, 9 males) of SD related to SA were found. All were heterosexual. The toxicologic study was negative in all. Ten cases were witnessed; during SA in 4 cases, just after SA in another 4 cases, 2 and 5 hr after in 1 each case. In 4 unwitnessed cases the victims were found dead less than 12 hr from the end of their SA. The partners were steady extramarital partners (n=8), prostitutes (n=2), marital partner (n=1) and unknown (n=3). The causes of the SD were as follows; coronary artery disease in 6, subarachnoid hemorrhage with ruptured berry aneurysm in 4, fibromuscular dysplasia of the atrioventricular nodal artery in 2, and unknown in 2. Coronary artery disease and subarachnoid hemorrhage with ruptured berry aneurysm were important as causes of SD related to SA.
Sexual Behavior/*statistics & numerical data ; Risk Assessment/*methods ; Prevalence ; Middle Aged ; Male ; Korea/epidemiology ; Humans ; Heart Diseases/*mortality ; Female ; Death, Sudden/*epidemiology ; Comorbidity ; Cause of Death ; Autopsy ; Adult

BACKGROUND AND OBJECTIVES: The goal of this study was to assess changes in left ventricular (LV) function and to identify pre-closure factors associated with LV dysfunction {fractional shortening (FS) below 29%} after transcatheter patent ductus arteriosus (PDA) closure. SUBJECTS AND METHODS: Forty-three pediatric patients with PDAs underwent cardiac catheterization for hemodynamic studies and intervention. Doppler echocardiography was performed at pre-closure, post-closure, and follow-up. RESULTS: S' and A' of the septum and mitral annulus were significantly decreased at post-closure and follow-up, respectively. In five of eight patients with Qp/Qs ratios over 1.60 and Pp/Ps ratios over 0.32 at pre-closure, the FS was decreased below 29% at post-closure. Qp/Qs ratio over 1.60 and Pp/Ps ratio over 0.32 at pre-closure had a sensitivity of 86% and a specificity of 84% for predicting FS to be below 29% at post-closure. CONCLUSION: Larger amounts of pre-closure left-to-right shunting and higher pulmonary artery pressure were associated with an increased likelihood of FS <29% after closure. The results of this study suggest that serial assessments of ventricular function are needed after PDA occlusion in patients with high Qp/Qs and Pp/Ps ratios.
Cardiac Catheterization ; Cardiac Catheters ; Child ; Ductus Arteriosus, Patent ; Echocardiography, Doppler ; Follow-Up Studies ; Hemodynamics ; Humans ; Pulmonary Artery ; Sensitivity and Specificity ; Ventricular Dysfunction ; Ventricular Dysfunction, Left ; Ventricular Function

OBJECTIVE: Arrhythmogenic right ventricular cardiomyopathy(ARVC) is a progressive cardiac muscle disease characterized as progressive fibrofatty replacement of the right ventricle, severe ventricular arrhythmia, and sudden death. However, there is no report of ARVC as a cause of sudden death in Korea. METHODS and RESULTS: Postmortem studies were done to 115 cases of sudden unexplained death at department of legal medicine, school of medicine, Kyungpook national university in year 1999. We identified 7 cases(6%) of typical ARVC with no other identifiable cause of sudden death. The subjects included 5 males and 2 females, ranging in age from 19 to 41 years (mean 29.7 years). All were found dead at bed (5 cases) or workshop (2 cases). Five cases were fibrofatty types and two cases were fatty types. Right ventricular aneurysm, inflammatory infiltrates and left ventricular involvement were found in 4, 2 and 1 cases, repectively. Two cases had family history of sudden death before age 40. No one was suspected of having cardiovascular disease or ARVC before death. CONCLUSION: These findings indicate that ARVC in Taegu-Kyungpook area may be more frequent than previously thought. ARVC may be a major cause of sudden unexplained death.
Aneurysm ; Arrhythmias, Cardiac ; Arrhythmogenic Right Ventricular Dysplasia* ; Cardiovascular Diseases ; Death, Sudden ; Education ; Female ; Forensic Medicine ; Gyeongsangbuk-do ; Heart Ventricles ; Humans ; Korea ; Male ; Myocardium

The three-dimensional (3-D) shape of erythrocytes is strongly associated with various diseases. However, conventional optical imaging approaches with Wright's staining only provide information on two-dimensional morphology. Here, we employed optical diffraction tomography (ODT), a label-free 3-D quantitative phase imaging technique, and observed uniquely shaped red blood cells (RBCs) in the peripheral blood of a patient diagnosed with myelodysplastic syndrome. Peripheral blood samples were collected when the patient visited our hospital for his two out-patient follow-ups in May 2018. The 3-D tomograms of randomly chosen RBCs were reconstructed using a commercial ODT setup. From the reconstructed 3-D RBCs, 37.5% and 32.8% of RBCs demonstrated cup-like shapes at the first and the second out-patient follow-up, respectively. Even though this is a single case report, the finding is novel and can be a potential dyserythropoietic feature found in peripheral blood.
Erythrocytes ; Follow-Up Studies ; Humans ; Myelodysplastic Syndromes ; Optical Imaging ; Outpatients ; Refractometry

Fabry disease is a progressive X-linked disorder of glycosphingolipid metabolism caused by a deficiency of the alpha-galactosidase lysosomal enzyme. The partial or complete deficiency of the lysosomal enzyme leads to an accumulation of neutral glycosphingolipids in the vascular endothelium and visceral tissues throughout the body. In the heart, glycosphingolipids deposition causes progressive left ventricular hypertrophy (LVH). We report a case of Fabry disease which was suspected based upon two-dimensional echocardiographic finding of LVH. A 44-year-old man was admitted to evaluation of aggravated exertional dyspnea of two weeks duration. He had been diagnosed with end-stage renal disease of unknown etiology at age 41 followed by renal transplantation that year. He had been treated with oral immunosuppressive agents. On hospital day two, transthoracic echocardiography revealed concentric LVH. Left ventricular systolic function was preserved but diastolic dysfunction was present. Fabry disease was confirmed by demonstration of a low plasma alpha-galactosidase A (alpha-Gal A) activity. Analysis of genomic DNA showed alpha-Gal A gene mutation. The patient was diagnosed with Fabry disease.
alpha-Galactosidase ; Cardiomyopathies ; DNA ; Dyspnea ; Echocardiography ; Endothelium, Vascular ; Fabry Disease ; Genes, vif ; Glycosphingolipids ; Heart ; Humans ; Hypertrophy, Left Ventricular ; Immunosuppressive Agents ; Kidney Failure, Chronic ; Kidney Transplantation ; Neutral Glycosphingolipids ; Plasma

A 53-year-old man complained of orthostatic, non-rotating dizziness, and chronic watery diarrhea of several years duration. His nerve-conduction velocity test revealed peripheral sensory-motor polyneuropathy and he showed an autonomic function abnormality. Echocardiographic examination showed ventricular and atrial wall thickening with a granular "sparkling" appearance. Left ventricular systolic function was preserved but pseudonormal diastolic dysfunction was present. Coronary angiography showed normal coronary arteries and an endomyocardial biopsy revealed lesions consistent with cardiac amyloidosis. Colonoscopic biopsy also revealed the deposition of amyloid fibrils. Gene analysis found the transthyretin variant Asp38Ala. His son had same mutation, but three daughters did not. In conclusion, we report a case of familial transthyretin amyloidosis with Asp38Ala.
Amyloid ; Amyloid Neuropathies, Familial ; Amyloidosis ; Biopsy ; Coronary Angiography ; Coronary Vessels ; Diarrhea ; Dizziness ; Hypotension, Orthostatic ; Nuclear Family ; Polyneuropathies ; Prealbumin

A 73-year-old man with a history of hypertension and ascending aortic dissection was hospitalized for aggravated abdominal pain and general ache for 3 months. Follow-up CT showed aggravated abdominal aortic hematoma with aneurysm, atherosclerotic periaortitis and bilateral hydronephrosis. An initial laboratory finding showed elevated levels of inflammatory markers and renal dysfunction. Positron emission tomography-CT showed an increased standardized uptake values level in the aortic arch, descending thoracic aorta, major branch, abdominal aorta, and common iliac artery. For bilateral hydronephrosis, a double J catheter insertion was performed. Tissue specimens obtained from previous surgery on the aorta indicated the infiltration of lympho-plasma cells without granuloma formation in the aortic wall. After a combined therapy of high dose steroid therapy with azathioprine, the patient's initial complaints of abdominal pain, weakness and azotemia improved. This case was diagnosed as chronic periaortitis based on aortic inflammation at biopsy, which was complicated with retroperitoneal fibrosis and ureteric obstruction.
Abdominal Pain ; Aneurysm ; Aorta ; Aorta, Abdominal ; Aorta, Thoracic ; Azathioprine ; Azotemia ; Biopsy ; Catheters ; Electrons ; Follow-Up Studies ; Granuloma ; Hematoma ; Hydronephrosis ; Hypertension ; Iliac Artery ; Inflammation ; Retroperitoneal Fibrosis ; Ureter