BACKGROUND AND OBJECTIVES: Marfan syndrome (MFS) is a connective tissue disorder with autosomal dominant inheritance and a highly variable clinical spectrum. However, there are limited data available on the clinical features of Korean patients with MFS. The aim of the present study was to describe the clinical characteristics and outcomes of Korean patients with MFS. SUBJECTS AND METHODS: We included all patients who were diagnosed with MFS between January 1995 and May 2015 at a single tertiary medical center. Patients with an MFS-related disorder including MASS phenotype (myopia, mitral valve prolapse, borderline and non-progressive aortic root dilatation, skeletal findings, and striae), mitral valve prolapse syndrome, and ectopia lentis syndrome were excluded. A total of 343 Korean patients aged ≥15 years who satisfied the revised Ghent nosology were included. RESULTS: The mean patient age at diagnosis was 35.9±12.6 years and 172 (50.1%) patients were male. Median follow-up duration was 52.8 months. A total of 303 patients (88.6%) had aortic root dilatation with Z score ≥2 or aortic root dissection. Ectopia lentis was relatively less common (163 patients, 55.1%) and systemic score ≥7 was found in 217 patients (73.8%). Among 219 probands, a family history of MFS was present in 97 patients (44.5%) and sporadic cases in 121 patients (55.5%). Among the 157 probands who underwent genetic analysis, 141 (89.8%) had an FBN1 mutation associated with aortic root aneurysm/dissection. Aortic dissection (AD) or intramural hematoma (IMH) was identified in 110 patients (32.1%). Among the 221 patients without AD or IMH, descending aortic aneurysms were identified in 19 patients (8.6%). Two hundred thirteen patients (62%) underwent cardiovascular surgery of any type. Eight patients died during follow-up. CONCLUSION: We described the clinical characteristics and outcomes of Korean MFS patients. Cardiovascular manifestations were commonly detected and FBN1 mutation was present in approximately 90% of patients. In contrast, ectopia lentis was identified in approximately half of patients. Our findings will be informative for the evaluation of patients with MFS.
Aortic Aneurysm ; Asian Continental Ancestry Group ; Connective Tissue ; Demography ; Diagnosis ; Dilatation ; Ectopia Lentis ; Follow-Up Studies ; Hematoma ; Humans ; Korea* ; Male ; Marfan Syndrome* ; Mitral Valve Prolapse ; Phenotype ; Wills

STUDY DESIGN: Retrospective study. PURPOSE: To identify the incidence of congenital cardiac abnormalities in patients who had scoliosis and underwent surgical treatment for scoliosis. OVERVIEW OF LITERATURE: Congenital and idiopathic scoliosis (IS) are associated with cardiac abnormalities. We sought to establish and compare the incidence of congenital cardiac abnormalities in patients with idiopathic and congenital scoliosis (CS) who underwent surgical treatment for scoliosis. METHODS: Ninety consecutive scoliosis patients, who underwent surgical correction of scoliosis, were classified as CS (55 patients, 28 female [51%]) and IS (35 patients, 21 female [60%]). The complete data of the patients, including medical records, plain radiograph and transthoracic echocardiography were retrospectively assessed. RESULTS: We found that mitral valve prolapse was the most common cardiac abnormality in both patients with IS (nine patients, 26%) and CS (13 patients, 24%). Other congenital cardiac abnormalities were atrial septal aneurysm (23% of IS patients, 18% of CS patients), pulmonary insufficiency (20% of IS patients, 4% of CS patients), aortic insufficiency (17% of IS patients), atrial septal defect (11% of IS patients, 13% of CS patients), patent foramen ovale (15% of CS patients), dextrocardia (4% of CS patients), bicuspid aortic valve (3% of IS patients), aortic stenosis (2% of CS patients), ventricular septal defect (2% of CS patients), and cardiomyopathy (2% of CS patients). CONCLUSIONS: We determined the increased incidence of congenital cardiac abnormalities among patients with congenital and IS. Mitral valve prolapse appeared to be the most prevalent congenital cardiac abnormality in both groups.
Aneurysm ; Aortic Valve ; Aortic Valve Stenosis ; Bicuspid ; Cardiomyopathies ; Dextrocardia ; Echocardiography ; Female ; Foramen Ovale, Patent ; Heart Septal Defects, Atrial ; Heart Septal Defects, Ventricular ; Humans ; Incidence ; Medical Records ; Mitral Valve Prolapse ; Retrospective Studies* ; Scoliosis*

STUDY DESIGN: Retrospective study. PURPOSE: To identify the incidence of congenital cardiac abnormalities in patients who had scoliosis and underwent surgical treatment for scoliosis. OVERVIEW OF LITERATURE: Congenital and idiopathic scoliosis (IS) are associated with cardiac abnormalities. We sought to establish and compare the incidence of congenital cardiac abnormalities in patients with idiopathic and congenital scoliosis (CS) who underwent surgical treatment for scoliosis. METHODS: Ninety consecutive scoliosis patients, who underwent surgical correction of scoliosis, were classified as CS (55 patients, 28 female [51%]) and IS (35 patients, 21 female [60%]). The complete data of the patients, including medical records, plain radiograph and transthoracic echocardiography were retrospectively assessed. RESULTS: We found that mitral valve prolapse was the most common cardiac abnormality in both patients with IS (nine patients, 26%) and CS (13 patients, 24%). Other congenital cardiac abnormalities were atrial septal aneurysm (23% of IS patients, 18% of CS patients), pulmonary insufficiency (20% of IS patients, 4% of CS patients), aortic insufficiency (17% of IS patients), atrial septal defect (11% of IS patients, 13% of CS patients), patent foramen ovale (15% of CS patients), dextrocardia (4% of CS patients), bicuspid aortic valve (3% of IS patients), aortic stenosis (2% of CS patients), ventricular septal defect (2% of CS patients), and cardiomyopathy (2% of CS patients). CONCLUSIONS: We determined the increased incidence of congenital cardiac abnormalities among patients with congenital and IS. Mitral valve prolapse appeared to be the most prevalent congenital cardiac abnormality in both groups.
Aneurysm ; Aortic Valve ; Aortic Valve Stenosis ; Bicuspid ; Cardiomyopathies ; Dextrocardia ; Echocardiography ; Female ; Foramen Ovale, Patent ; Heart Septal Defects, Atrial ; Heart Septal Defects, Ventricular ; Humans ; Incidence ; Medical Records ; Mitral Valve Prolapse ; Retrospective Studies* ; Scoliosis*

A 43-year-old woman was admitted due to fever, chills, and headache for several days and was diagnosed as infective endocarditis. Intraoperative transesophageal echocardiography (TEE) examination confirmed severe aortic stenosis and showed relatively fresh 1.5 cm vegetation on the left coronary cusp of the aortic valve (AV) with frequent diastolic prolapse into the aortic root. This mobile vegetation partially occluded left coronary ostium, but it did not cause cardiac failure. TEE showed the vegetation to be in good position across the AV. The AV replacement with removal of vegetation and mitral valvuloplasty were performed. The patient was weaned from cardiopulmonary bypass without any hemodynamic instability or changes in ST segment on electrocardiography. She was discharged on the 28th postoperative day without any complication.
Adult ; Aortic Valve ; Aortic Valve Stenosis ; Cardiopulmonary Bypass ; Chills ; Coronary Vessels* ; Echocardiography, Transesophageal ; Electrocardiography ; Endocarditis* ; Female ; Fever ; Headache ; Heart Failure ; Hemodynamics ; Humans ; Prolapse

Ventricular septal defect (VSD) can be associated with various complications such as aortic regurgitation (AR). AR in VSD come from a deficiency or hypoplasia of the conal septum which leads to abnormal apposition in diastole and prolapse of the poorly supported noncoronary or right coronary cusp through the VSD into the right ventricle resembling subpulmonic stenosis and subsequently results in distortion of the aortic valve and progressive AR. AR often increases in severity with age and it indicates a worse prognosis. Therefore, appropriate timing of surgical repair in progressive AR in VSD might be important. Until now, many earlier experiences about surgical repair of AR complicating VSD were on adolescents or young adults. We reported a case of AR in 48-year-old male patient with right coronary cusp prolapse complicating the subarterial type of VSD which was properly assessed by echocardiography and was successfully treated with surgical repair. Right coronary cusp or noncoronary cusp prolapse should be suspected in AR complicating VSD through proper echocardiographic assessment and the surgical repair on VSD and distorted aortic valve should be considered in the old patient, as well as the young.
Adolescent ; Adult ; Aortic Valve ; Aortic Valve Insufficiency ; Constriction, Pathologic ; Diastole ; Echocardiography ; Heart Septal Defects, Ventricular ; Heart Ventricles ; Humans ; Male ; Middle Aged ; Prognosis ; Prolapse ; Young Adult

BACKGROUND: Surgery for mitral valve disease in children carries both technical and clinical difficulties that are due to both the wide spectrum of morphologic abnormalities and the high incidence of associated cardiac anomalies. The purpose of this study is to assess the outcome of mitral valve surgery for treating congenital mitral regurgitation in children. MATERIAL AND METHOD: From 1997 to 2007, 22 children (mean age: 5.4 years) who had congenital mitral regurgitation underwent mitral valve repair. The median age of the patients was 5.4 years old and four patients (18%) were under 12 months of age. 15 patients (68%) had cardiac anomalies. There were 13 cases of ventricular septal defect, 1 case of atrial septal defect and 1 case of supravalvar aortic stenosis. The grade of the preoperative mitral valve regurgitation was II in 4 patients, III in 15 patients and IV in 3. The regurgitation was due to leaflet prolapse in 12 patients, annular dilatation in 4 patients and restrictive leaflet motion in 5 patients. The preoperative MV Z-value and the regurgitation grade were compared with those obtained at follow-up. RESULT: MV repair was possible in all the patients. 19 patients required reduction annuloplasty and 18 patients required valvuloplasty that included shortening of the chordae, papillary muscle splitting, artificial chordae insertion and cleft closure. There were no early or late deaths. The mitral valve regurgitation after surgery was improved in all patients (absent=10, grade I=5, II=5, III=2). MV repair resulted in reduction of the mitral valve Z-value (2.2+/-.1 vs. 0.7+/-.3, respectively, p<0.01). During the mid-term follow-up period of 3.68 years, reoperation was done in three patients (one with repair and two with replacement) and three patients showed mild progression of their mitral regurgitation. CONCLUSION: Our experience indicates that mitral valve repair in children with congenital mitral valve regurgitation is an effective and reliable surgical method with a low reoperation rate. A good postoperative outcome can be obtained by preoperatively recognizing the intrinsic mitral valve pathophysiology detected on echocardiography and with the well-designed, aggressive application of the various reconstruction techniques.
Aortic Stenosis, Supravalvular ; Child ; Dilatation ; Echocardiography ; Follow-Up Studies ; Heart Septal Defects, Atrial ; Heart Septal Defects, Ventricular ; Humans ; Incidence ; Mitral Valve ; Mitral Valve Insufficiency ; Papillary Muscles ; Prolapse ; Reoperation

A 27-year-old female visited outpatient clinic for the evaluation of palpitation and dyspnea on exertion. Echocardiographic examination including transthoracic and transesophageal echocardiography revealed coarctation of aorta, bicuspid aortic valve, mitral valve prolapse, and sealed-up ventricular septal defect. Further evaluation with computed tomography angiography revealed another combined congenital anomaly of left isomerism with polysplenism and interrupted inferior vena cava and pulmonary embolism with deep vein thrombosis. After corrective surgery for the coarctation, she received anticoagulation therapy for the treatment and the secondary prevention of pulmonary embolism.
Adult ; Ambulatory Care Facilities ; Angiography ; Aortic Coarctation* ; Aortic Valve ; Bicuspid ; Dyspnea ; Echocardiography ; Echocardiography, Transesophageal ; Female ; Heart Septal Defects, Ventricular ; Humans ; Isomerism* ; Mitral Valve Prolapse ; Pulmonary Embolism ; Secondary Prevention ; Vena Cava, Inferior* ; Venous Thrombosis

We report a case in which epidural anesthesia was successfully administered during a cesarean section of a 35 years old parturient patient with severe congestive heart failure and respiratory insufficiency at 33 weeks of gestation. The patient had a past history of mitral regurgitation and mitral valve prolapse treated by mitral valve replacement ten years prior. When limited motion of the prosthetic mitral valve developed, congestive heart failure recurred and was aggravated by the pregnancy. In addition, the patient presented with symptoms of respiratory insufficiency including NYHA III dyspnea, orthopnea, severe pulmonary hypertension (systolic pulmonary arterial pressure: 112 mmHg) due to severe aortic regurgitation, pleural effusion and pulmonary edema on admission. Four-days after admission, with premature labor pain and fetal distress, the patient underwent an emergency cesarean section. Due to the orthopnea, the patient could not breathe in the supine position, and we chose to give epidural anesthesia at a sitting position for preserving self-respiration and to prevent a ventilation-perfusion mismatch that would possibly develop during general anesthesia. Moreover, we could control postoperative pain and maintain a minimal, gradual hemodynamic change throughout the epidural anesthesia. During surgery, the hemodynamic instabilities were controlled by the use of dopamine, dobutamine, ephedrine and milrinone. We safely finished the cesarean section under epidural anesthesia and the patient was sent to the intensive care unit postoperatively to manage congestive heart failure and respiratory insufficiency.
Adult ; Anesthesia, Epidural* ; Anesthesia, General ; Aortic Valve Insufficiency ; Arterial Pressure ; Cesarean Section* ; Dobutamine ; Dopamine ; Dyspnea ; Emergencies ; Ephedrine ; Estrogens, Conjugated (USP)* ; Female ; Fetal Distress ; Heart Failure* ; Hemodynamics ; Humans ; Hypertension, Pulmonary ; Intensive Care Units ; Milrinone ; Mitral Valve ; Mitral Valve Insufficiency ; Mitral Valve Prolapse ; Obstetric Labor, Premature ; Pain, Postoperative ; Pleural Effusion ; Pregnancy ; Pulmonary Edema ; Respiratory Insufficiency* ; Supine Position

OBJECTIVETo summarize the experience on auto-pulmonary transplantation (Ross procedure) treating with congenital aortic disease.

METHODSFrom October 1994 to November 2003, 20 cases of Ross procedure were performed to treat with congenital aortic disease, Male: 15 cases; Female: 5 cases; age: 25 years;

DIAGNOSIScongenital heart disease (CHD), aortic abnormalities: 12 cases; aortic valve prolapse: 5 cases; aortic valve hypogenesis: 3 cases; combined with subacute bacterial endocarditis (SBE): 4 cases, and ventricle septal defect (VSD): 2 cases; UCG showed aortic stenosis(AS) and/or aortic insufficience (AI) (moderate to severe), Left ventricle diastole diameter (LVDD): (60.51 +/- 11.87) mm, the grade pressure across aortic valve: (27.04 +/- 6.80) mmHg, heart function (NYHA): Class II: 13 cases; Class III: 3 cases; all cases were performed under CPB and moderate hypothermia, the operation procedure was following: (1) taking off auto-pulmonary artery valve; (2) removing dysfunctional aortic valve and auto-transplantation of pulmonary valve on aortic root; (3) putting a pulmonary homograft to rebuild right ventricular outflow tract.

RESULTSThe mortality was 0 during stay at hospital, aortic valve function were all normal, LVDD decreased significantly (t = 3.4007, P = 0.0008), the grade pressure across aortic valve was in normal limitation, (6.8 +/- 0.19) mmHg. Follow-up showed heart function was in Class I (NYHA), aortic and pulmonary valve function was very well.

CONCLUSIONRoss procedure is a kind of effective alterative operation for treating with congenital aortic valve disease, with good short and middle term results.

Adolescent ; Adult ; Aortic Valve Insufficiency ; surgery ; Aortic Valve Prolapse ; surgery ; Aortic Valve Stenosis ; surgery ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Humans ; Male ; Pulmonary Valve ; transplantation ; Transplantation, Autologous

BACKGROUND: In this study, we investigated the risk factors for the development or progression of aortic regurgitation(AR) in patients with type I ventricular septal defect (VSD) to determine the optimal surgical timing and strategy. MATERIAL AND METHOD: Three-hundred and ten patients with type I VSD with or without AR were included. The mean of age was 73.7+/-114.7 (1~37) months. One hundred and eighty six patients (60%) had no AR, 83 (27%) had mild AR, 25 (8%) had moderate AR and 16 (5%) had severe AR. Aortic valve was repaired in 5 patients and replaced in 11 patients with closure of VSD in the first operation. Four patients required redo aortic valve repair and 11 patients required redo aortic valve replacement. Age at operation, association with aortic valve prolapse, Qp/Qs, systolic pulmonary arterial pressure, VSD size and systolic pulmonary artery to aortic pressure ratio(s[PAP/AP]) were included as risk factors analysis for the development of AR. The long-term result of aortic valve repair and aortic valve replacement were compared. RESULT: Older age at operation, association with aortic valve prolapse, high Qp/Qs, and s[PAP/AP] were identified as risk factors for the development of AR (p<0.05, Table 2). The older the patient at the time of operation, the higher the severity of preoperative AR and the incidence of postoperative AR (p<0.05, Table 1, Fig. 1). For the older patients at operation, aortic valve repair had higher occurrence of AR compared to those who had aortic valve replacement (p<0.05, Fig. 2). CONCLUSION: From the result of this study, we can concluded that early primary repair is recommended to decrease the progression of AR. Aortic valve repair is not always a satisfactory option to correct the aortic valve pathology, which may suggest that aortic valve replacement should be considered when indicated.
Aortic Valve ; Aortic Valve Insufficiency ; Aortic Valve Prolapse ; Arterial Pressure ; Heart Septal Defects ; Heart Septal Defects, Ventricular* ; Humans ; Incidence ; Pathology ; Pulmonary Artery ; Risk Factors