PURPOSE: Kabuki syndrome is a multiple congenital malformation syndrome, with characteristic facial features, mental retardation, and skeletal and congenital heart anomalies. However, the cardiac anomalies are not well described in the Korean population. We analyzed the cardiac anomalies and clinical features of Kabuki syndrome in a single tertiary center. METHODS: A retrospective analysis was conducted for a total of 13 patients with Kabuki syndrome. RESULTS: The median age at diagnosis of was 5.9 years (range, 9 days to 11 years and 8 months). All patients showed the characteristic facial dysmorphisms and congenital anomalies in multiple organs, and the diagnosis was delayed by 5.9 years (range, 9 days to 11 years and 5 months) after the first visit. Noncardiac anomalies were found in 84% of patients, and congenital heart diseases were found in 9 patients (69%). All 9 patients exhibited left-side heart anomalies, including hypoplastic left heart syndrome in 3, coarctation of the aorta in 4, aortic valve stenosis in 1, and mitral valve stenosis in 1. None had right-side heart disease or isolated septal defects. Genetic testing in 10 patients revealed 9 novel MLL2 mutations. All 11 patients who were available for follow-up exhibited developmental delays during the median 4 years (range, 9 days to 11 years 11 months) of follow-up. The leading cause of death was hypoplastic left heart syndrome. CONCLUSION: Pediatric cardiologist should recognize Kabuki syndrome and the high prevalence of left heart anomalies with Kabuki syndrome. Genetic testing can be helpful for early diagnosis and counseling.
Abnormalities, Multiple ; Aortic Coarctation ; Aortic Valve Stenosis ; Cause of Death ; Counseling ; Diagnosis ; Early Diagnosis ; Follow-Up Studies ; Genetic Testing ; Heart Defects, Congenital ; Heart Diseases ; Heart* ; Humans ; Hypoplastic Left Heart Syndrome ; Intellectual Disability ; Mitral Valve Stenosis ; Prevalence ; Retrospective Studies

Cardiac papillary fibroelastomas (CPF) are benign cardiac tumors and usually discovered incidentally during echocardiography. This report describes the case of a 68-year-old man, referred to cardiology for multiple masses of the left ventricle and left atrium. The transthoracic echocardiography revealed multiple oscillating masses in the left ventricle and aortic valve, non-mobile mass in the left atrium with severe mitral stenosis and moderate aortic regurgitation. The patient underwent surgical resection of the masses with valve replacements. Histopathologic examination confirmed the diagnosis of CPF in the left ventricle and aortic valve, thrombus in the left atrium.
Aged ; Aortic Valve ; Aortic Valve Insufficiency ; Cardiology ; Diagnosis ; Echocardiography ; Heart Atria ; Heart Neoplasms ; Heart Ventricles ; Heart* ; Humans ; Mitral Valve Stenosis ; Thrombosis*

A precise pre-procedural evaluation of mitral valve (MV) pathology is essential for planning the surgical strategy for severe mitral regurgitation (MR) and preparing for the intraoperative procedure. In the present case, a 38-year-old woman was scheduled to undergo MV replacement due to severe MR. She had a history of undergoing percutaneous balloon valvuloplasty due to rheumatic mitral stenosis during a previous pregnancy. A preoperative transthoracic echocardiography suggested a tear in the mid tip of the anterior mitral leaflet. However, the "en face" view of the MV in the left atrial perspective using intraoperative real time three-dimensional transesophageal echocardiography (RT 3D-TEE) provided a different diagnosis: a torn cleft in the P2-scallop of the posterior mitral leaflet (PML) with rupture of the chordae. Thus, surgical planning was changed intraoperatively to MV repair (MVRep) consisting of patch closure of the PML, commissurotomy, and lifting annuloplasty. The present case shows that intraoperative RT 3D-TEE provides more precise and reliable spatial information of MV for MVRep and facilitates critical surgical decision-making.
Adult ; Balloon Valvuloplasty ; Diagnosis ; Echocardiography ; Echocardiography, Transesophageal* ; Female ; Humans ; Lifting ; Mitral Valve Insufficiency ; Mitral Valve Stenosis ; Mitral Valve* ; Pathology ; Pregnancy ; Rupture

Adult ; Female ; Heart Diseases ; diagnosis ; Humans ; Mitral Valve Stenosis ; diagnosis ; Postpartum Period ; Pregnancy ; Thrombosis ; diagnosis

The cardiovascular system may be one of the target organs of both immunoglobulin G4 related and non-related systemic multifocal fibrosclerosis. We present a case of IgG4 non-related systemic multifocal fibrosclerosis mimicking mitral stenosis on echocardiography. For a more detailed differential diagnosis, we used multimodal imaging techniques. After surgical biopsy around the abdominal aortic area in the retroperitoneum, histological examination revealed IgG4 non-related systemic multifocal fibrosclerosis. We describe the multimodal imaging used to diagnose IgG4 non-related systemic multifocal fibrosclerosis and a positive response to steroid treatment. There have been no previous case reports of IgG4 non-related systemic multifocal fibrosclerosis with intracardiac involvement. Here, we report a case of IgG4 non-related systemic multifocal fibrosclerosis mimicking mitral stenosis.
Aged ; Aorta, Abdominal/pathology ; Diagnosis, Differential ; Echocardiography ; Female ; Humans ; Immunoglobulin G/*blood/immunology ; Magnetic Resonance Imaging ; Mitral Valve Stenosis/diagnosis ; Myocardium/*pathology ; Peritoneum/surgery ; Positron-Emission Tomography ; Retroperitoneal Fibrosis/*congenital/diagnosis/drug therapy/ultrasonography ; Steroids/therapeutic use ; Tomography, X-Ray Computed

OBJECTIVE: To report two cases of cardiovocal syndrome (or Ortner's syndrome) due to cardiovascular disease.

METHODS:
Design: Case report
Setting: Tertiary University Hospital
Subjects: Two

RESULTS: Two patients with Cardiovocal syndrome, one due to an aortic saccular aneurysm and the other due to severe mitral stenosis underwent surgery to correct the underlying cardiovascular disease. Post-operatively, the hoarseness resolved completely in the patient with mitral stenosis but persisted in the patient with aortic saccular aneurysm.

CONCLUSION: Cardiovascular disease should be considered as a differential diagnosis in a patient with hoarseness. A high index of suspicion is needed to make an early diagnosis which can lead to surgical correction of the potentially life-threatening, underlying cardiovascular disease.

BACKGROUND: Aortopulmonary window (APW) is a very rare congenital heart anomaly, often associated with other cardiac anomalies. It causes a significant systemic to pulmonary artery shunt, which requires early surgical correction. Accurate diagnosis and surgical correction will bring good outcomes. The purpose of this study was to describe our 20-year experience of aortopulmonary window. MATERIAL AND METHOD: Between March 1985 and January 2005, 16 patients with APW underwent surgical repair. Mean age at operation was 157.8+/-245.3 (15.0~994.0) days and mean weight was 4.8+/-2.5 (1.7~10.7) kg. Patent ductus arteriosus (8), atrial septal defect (7), interrupted aortic arch (5), ventricular septal defect (4), patent foramen ovale (3), tricuspid valve regurgitation (3), mitral valve regurgitation (2), aortic valve regurgitation (1), coarctation of aorta (1), left superior vena cavae (1), and dextrocardia (1) were associated. Repair methods included 1) division of the APW with primary closure or patch closure of aorta and pulmonary artery primary closure or patch closure (11) and 2) intra-arterial patch closure (3). 3) Division of the window and descending aorta to APW anastomosis (2) in the patients with interrupted aortic arch or coarctation. RESULT: There was one death. The patient had 2.5 cm long severe tracheal stenosis from carina with tracheal bronchus supplying right upper lobe. The patient died at 5th post operative day due to massive tracheal bleeding. Patients with complex aortopulmonary window had longer intensive care unit and hospital stay and showed more morbidities and higher reoperation rates. 5 patients had reoperations due to left pulmonary artery stenosis (4), right pulmonary artery stenosis (2), and main pulmonary artery stenosis (1). The mean follow-up period was 6.8+/-5.6 (57.0 days~16.7 years)years and all patients belonged to NYHA class I. CONCLUSION: With early and prompt correction of APW, excellent surgical outcome can be expected. However, optimal surgical method needs to be established to decrease the rate of stenosis of pulmonary arteries.
Aorta ; Aorta, Thoracic ; Aortic Coarctation ; Aortic Valve ; Bronchi ; Constriction, Pathologic ; Dextrocardia ; Diagnosis ; Ductus Arteriosus, Patent ; Follow-Up Studies ; Foramen Ovale, Patent ; Heart ; Heart Defects, Congenital ; Heart Septal Defects, Atrial ; Heart Septal Defects, Ventricular ; Hemorrhage ; Humans ; Intensive Care Units ; Length of Stay ; Mitral Valve Insufficiency ; Pulmonary Artery ; Reoperation ; Tracheal Stenosis ; Tricuspid Valve Insufficiency ; Vena Cava, Superior

The complete echocardiographic evaluation of the patient with transposition of the great arteries requires diagnosing not only the ventriculoarterial connections (transposition) but only the atrial situs and the atrioventricular connections. The echocardiographic features of the discordant ventriculoarterial connection with a subpulmonary conus and absent subaortic conus include a left-sided infundibulum connection the left ventricle to the pulmonary artery, a somewhat small subaortic ventricular septal defect through which the mitral valve is in fibrous continuity with the aortic valve, subvalvular and/ or valvular pulmonary stenosis, and a characteristic coronary artery pattern. The spatial relationship of the great arteries, the chamber sizes, and the associated defect including atrial septal defect/patent ductus arteriosus, ventricular septal defect, and left ventricular outflow tract obstruction provide supportive evidence of the diagnosis. Also the evaluation of coronary artery anatomy has become an major part of the preoperative echocardiographic examination.
Aortic Valve ; Arteries* ; Conus Snail ; Coronary Vessels ; Diagnosis ; Ductus Arteriosus ; Echocardiography* ; Heart Septal Defects, Ventricular ; Heart Ventricles ; Humans ; Mitral Valve ; Pulmonary Artery ; Pulmonary Valve Stenosis

Acute abdominal Aortic occlusion is rare but it is a vascular emergency with high mortality and morbidity. Therefore, delay in diagnosis can have severe impact on the prognosis. A 60-year-old women complained of paresthesia, paralysis, and severe pain in bilateral lower extremities on 13th day after open heart surgery for mitral stenosis, atrial fibrillation, coronary arterial stenosis, tricuspid regurgitation, and atrial septal defect. Her skin was mottled and cool from the umbilicus to the feet, and there were no palpable pulses in the lower exteremities. We diagnosed an acute abdominal aortic occlusion using the Multi-Detector Row Spiral Computed Tomography and successfully treated the problem with emergent thrombo-embolectomy and Aortobifemoral bypass.
Aorta, Abdominal ; Atrial Fibrillation ; Constriction, Pathologic ; Diagnosis ; Emergencies ; Female ; Foot ; Heart Septal Defects, Atrial ; Heart* ; Humans ; Lower Extremity ; Middle Aged ; Mitral Valve Stenosis ; Mortality ; Paralysis ; Paresthesia ; Prognosis ; Skin ; Thoracic Surgery* ; Thrombosis ; Tomography, Spiral Computed ; Tricuspid Valve Insufficiency ; Umbilicus

Introducing some advantages of cardiac ultrasound (through chest wall and trans-esophagus) in diagnosis of mitral stenosis. In Vietnam, Some kinds of cardiac ultrasound were applied since 1973 including M-mode ultrasound, 2D ultrasound, Doppler, and color ultrasound. Internal treatment and surgical treatment (including in closed or opened cardiac surgery, percutaneous mitral balloon valvotomy) are very efficient
Mitral Valve Stenosis ; ultrasonography ; Heart Diseases ; diagnosis ; Therapeutics