Two Cases of Partial Trisomy 4p and Partial Trisomy 14q

김여향,김흥식,류남희,하정숙 대한진단검사의학회 2013 Annals of Laboratory Medicine Vol.33 No.1

We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent growth retardation and psychomotor developmental delay. Other phenotypic manifestations were generally mild and variable; for example, patient 1 had a short palpebral fissure and low-set ears whereas patient 2 had a round face, asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.

Pediatric Tachyarrhythmia and Radiofrequency Catheter Ablation: Results From 1993 to 2011

김여향,박형섭,현명철,김윤년 대한심장학회 2012 Korean Circulation Journal Vol.42 No.11

Background and Objectives: We performed a retrospective study to elucidate the frequency of tachycardia mechanisms and the characteristics of accessory pathways (APs), confirmed by radiofrequency catheter ablation (RFCA) in pediatric tachycardia. In addition, we analyzed the efficacy and safety of pediatric RFCA. Subjects and Methods: The authors retrospectively reviewed the records of a total of 260 patients (aged 2 to 18 years) who had undergone RFCA between August 1993 and July 2011 at two medical centers in Daegu. Results: Two hundred and sixty patients underwent 272 RFCAs at less than 18 years of age. Of these 260 patients, 9 patients (3%) were younger than 6 years, and 175 patients (67%) were older than 12 years. The tachycardia mechanisms observed were atrioventricular reentry tachycardia (AVRT) in 175 patients (65%), atrioventricular nodal reentry tachycardia (AVNRT) in 83 patients (30%), ventricular tachycardia in 12 patients (4%), and atrial tachycardia in 2 patients (0.7%). Among the patients with AVRT, there were 94 concealed APs and 81 manifest APs. Left-side APs were more common in concealed APs than in manifest APs (72/94, 77% vs. 33/81, 41%, p<0.001). Sixty-six percent (55/83) of AVNRT cases were located at the M1 and/or M2 sites. Four patients had multiple tachycardia mechanisms (AVNRT+AVRT) and 9 patients had multiple APs. The recurrence rate was 5% (13/272). Of these recurrent cases, 12 patients had AVRT. The overall success rate was 95%. Conclusion: Pediatric RFCA provides a good success rate and an acceptable recurrence. In addition, we suggest that the APs location may be associated with concealed or manifest property of APs.

Tissue Doppler imaging을 이용한소아 종양 환자에서의 심기능 평가

김여향 대한소아청소년과학회 2006 Clinical and Experimental Pediatrics (CEP) Vol.49 No.4

선천성 심장병의 개심술 후 신호 평준화 심전도의 변화

김여향,최희정,김근직,조준용,이상범,현명철 대한소아청소년과학회 2009 Clinical and Experimental Pediatrics (CEP) Vol.52 No.12

Purpose:To analyze abnormal ventricular activation in childhood congenital heart disease induced by postoperative changes in ventricular volume and pressure and ventricular scar formation using signal-averaged electrocardiography (SAECG). Methods:Fifty-two patients who had undergone open heart surgery (OHS) were enrolled. Patients were divided into the following 3 groups: right ventricular volume overload (atrial septal defect, group1), left ventricular volume overload (ventricular septal defect, group2), and right ventricular pressure overload (tetralogy of Fallot, group 3). The patients were monitored by standard 12-lead ECG and SAECG before and 2 months after the operation. QRS duration, QT and QTc intervals, filtered QRS (f-QRS), high frequency low amplitude potential (HFLA), and root mean square (RMS) voltage in the terminal 40 ms of SAECG were determined. Results:In the preoperative period, group1 showed significant increase in QRS (P=0.011) compared to those of the other 2 groups. In the postoperative period, group3 showed significant increase in the QTc interval (P=0.004) compared to those in the other 2 groups. SAECG parameters showed no significant differences among the groups in the pre- or postoperative period. Of the 52 patients, 12 (23%) in the preoperative period and 21 (40%) in the postoperative period had at least 1 SAECG abnormality. The prevalence of SAECG abnormalities was significantly higher in the postoperative group 2 and group 3 (preoperative: 20% versus postoperative: 28%, P<0.001, preoperative: 14% versus postoperative: 64%, P<0.001, respectively). Conclusion:Abnormal SAECG patterns may be attributed to postoperative scars, OHS itself, and/or ventricular overload. 목적:이번 연구에서는 소아기에 흔한 선천성 심장병 환자들을 대상으로 개심술 이후 생긴 반흔과 수술로 인한 용적 또는 압력 과부하 상태의 변화로 초래되는 비정상적인 심실 활성화를 신호 평준화 심전도를 이용하여 분석하고자 하였다. 방법:선천성 심장병으로 개심교정술을 시행한 환자 52명을 대상으로 하였다. 환자군은 우심실 용적 과부하군(심방 중격 결손군, 1군), 좌심실 용적 과부하군(심실 중격 결손군, 2군), 우심실 압력 과부하군(활로씨 4징군, 3군)으로 나누었다. 대상 환자 모두에서 표준 12 유도 심전도와 신호 평준화 심전도 검사를 시행하였고, 평균 QRS 기간, QT와 QTc 간격, f-QRS, HFLA, RMS in terminal 40 ms를 구하였다. 결과:수술 전에는 1군에서 다른 군에 비해 의미 있게 긴 QRS 기간을 보였고(P=0.011), 수술 후에는 3 군에서 다른 군에 비해 QTc 간격이 의미 있는 증가가 있었다(P=0.004). 그러나 신호 평준화 심전도는 수술 전후 환자군 간에 차이가 없었다. 전체 대상 환자 중 신호 평준화 심전도 측정값이 한가지 이상 후전위의 진단 기준에 해당되는 경우가 수술 전 12명(23%)에서 수술 후 21명(40%)로 증가하였다. 특히 2군과 3군에서는 수술 전에 비해 수술 후에 신호 평준화 심전도의 이상 소견을 보이는 경우가 의미있게 많았다(2군: 20% versus 28%, P<0.001, 3군: 14% versus 64%, P<0.001). 결 론:비정상적인 신호 평준화 심전도 값은 수술 후 반흔뿐만 아니라 개심술 자체, 심실의 과부하에 의해서도 발생할 수 있다.

Plastic bronchitis in children: 2 cases

김여향,최희정,현명철,김정옥 대한소아청소년과학회 2009 Clinical and Experimental Pediatrics (CEP) Vol.52 No.7

Plastic bronchitis is a rare disorder characterized by the formation of extensive, obstructing endobronchial casts. It is associated with asthma and complex cardiac defects such as those requiring the Fontan procedure. The treatment of plastic bronchitis comprises conventional therapy involving spontaneous expectoration and bronchoscopic removal and specific therapy with several new drugs. Herein, we describe the cases of 2 patients diagnosed with plastic bronchitis accompanied with a different underlying disease, which were treated with inhaled corticosteroid and low-dose oral clarithromycin.

Transient Left Ventricular Dysfunction After Percutaneous Patent Ductus Arteriosus Closure in Children

김여향,김희정,조용근,이상범,현명철 대한심장학회 2008 Korean Circulation Journal Vol.38 No.11

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. 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.

심실 용적 과부하 환아의 좌심실 국소 운동 이상

김여향,이상범 대한소아과학회 2004 小兒科 Vol.47 No.1

심실 용적 과부하 환아의 좌심실 국소 운동 이상

김여향,이상범 대한소아청소년과학회 2004 Clinical and Experimental Pediatrics (CEP) Vol.47 No.1

목 적 : 소아기에 흔한 선천성 심질환을 가진 환아에서 심혈관 조영술로 좌심실 국소 운동 정도를 분석하여 양심실의 혈류량 증가가 좌심실 국소 운동 기능에 미치는 영향을 비교해 보기 위해 시행되었다.방 법 : 1998년 1월부터 2002년 12월까지 선천성 심질환으로 경북대학교 병원 소아과에 입원하여 좌심실 영화촬영을 받고 좌심실 국소 운동 분석을 시행한 환아 96명을 대상으로, Qp/Qs가 1.5 이상이고 좌, 우심실 용적 과부하가 있는 경우를 각각 1, 2군으로, 우심실이나 좌심실에 압력 과부하가 없고 Qp/Qs가 1.1 이하인 경우를 대조군으로 구분하여, DXC Hiline Digital System(GER, Paris, France)의 cardiac analysis program을 이용하여, 좌심실의 elongated RAO 30 사진의 재생 정지 화면에서 좌심실의 수축기말과 확장기말 외형을 그려서, 좌심실 국소 운동(centerline 방법, radial 방법)을 분석하였다.결 과 : Centerline 방법으로 좌심실 국소 운동을 계측시 1군의 환아들은 대조군에 비해서 국소 운동의 의미있는 감소가 보이지는 않았으나, 2군의 환아에서는 anterolateral portion에서는 대조군에 비해 의미있는 국소 운동의 감소가, diaphragmatic portion에서 증가가 보였다(P<0.05). Radial 방법으로 좌심실 국소 운동을 계측시에는 1, 2군 환아 모두에서 대조군에 비해 어떤 좌심실 구간도 국소 운동의 감소나 증가가 보이지 않았다. Purpose:To assess the regional wall motion of the left ventricle in patients with diastolic overloaded lesions of congenital heart diseases with centerline analysis and radial method. Methods:This study included 96 children with congenital heart diseases admitted to Kyungpook National University Hospital from January 1998 to December 2002 who received left ventriculograms. The evaluation of the regional wall motion of the left ventricle was done on review mode of 30- degree elongated right anterior oblique projection of left ventriculogram by using cardiac analysis program of the DXC Hiline Digital System(GER, Paris, France). Results:Compared with the control group, the left ventricular regional wall motions of patients with right ventricular diastolic overload were significantly decreased at the anterolateral portion and increased at the diaphragmatic portion with the centerline analysis method, but no differences were noted with the radial method. Conclusion:We confirmed left ventricular regional wall motion abnormalities in patients with right ventricular diastolic overload lesions of congenital heart diseases with the centerline method in spite of normal ejection fraction.

소아 개심술 환아에서의 Cardiac Troponin I의 변화

김여향,현명철,이상범,Kim, Yeo Hyang,Hyun, Myung Chul,Lee, Sang Bum 대한소아청소년과학회 2002 Clinical and Experimental Pediatrics (CEP) Vol.45 No.2

목 적 : 수술 중, 후의 심근 손상은 선천성 심질환에 대한 개심술 후 심장 기능 부전의 주원인이다. 이 연구에서는 심근 세포에서만 발견되는 cardiac troponinI를 측정함으로서 수술 중, 후 심근 손상 정도와 회복 여부를 반영할 생화학적 표지자로서의 가치를 확인하고자 하였다. 방 법: 2001년 4월부터 7월까지 선천성 심질환으로 진단받고 개심술을 위해 본원에 입원한 환아 34명을 대상으로 하였다. Cardiac troponin I 치의 측정을 위해 술전 24시간 이내, 술후 1, 2, 3, 7일째에 각각 채혈을 시행했고, CPB 시간, ACC 시간, 기도 삽관시간, 수술 후 입원 기간을 측정하였다. 결 과 : Cardiac troponin I 치는 수술 후 1일째가 수술 전에 비해 유의한 증가가 있었고, 2, 3, 7일째에는 점차적으로 유의한 감소를 보였다. 심질환 별로는 수술 후 1일째 대혈관 전위에서 cardiac troponin I 치가 가장 높았고, 활로씨 4징, 방실중격결손, 심실중격결손, 심방중격결손 순으로 높은 치를 나타내었다. 심장폐 우회술 시간이 길수록, ACC 시간이 길수록 수술 후 1일째 cardiac troponin I 농도가 높았고, cardiac troponin I 농도가 높을수록 기도삽관 시간이 길었으나 입원 기간과는 상관관계가 없었다. 결 론: 개심술 후 시간에 따라, 개심술을 시행한 심질환에 따라 cardiac troponin I 농도의 의미 있는 증가와 점차적인 감소를 보임으로써 cardiac troponinI는 개심술 후 심근 손상의 정도 및 심근 손상에서의 회복 여부를 반영하는 생화학적 표지자로 가치가 있을 것으로 생각된다. Purpose : The major cause of cardiac dysfunction, after open heart surgery for congenital heart disease, is perioperative myocardial injury. Cardiac troponin I is found only within the myocardial cell, so it can be used as a biochemical marker of the myocardial injury. We performed this study to evaluate the worth of cardiac troponin I as a biochemical marker reflecting the extent of perioperative myocardial injury and recovery. Methods : Thirty-four patients who had undergone elective open heart surgery of congenital heart disease(CHD) from April to July 2001 were enrolled in this study. We measured types of CHD, serial cardiac troponin I(baseline 1 day before operation, postoperative day 1, 2, 3, 7), duration of cardiopulmonary bypass(CPB), aortic cross clamping(ACC), intubation and postoperative hospital stay. Results : Compared with the baseline before operation, there was a significant, increase of cardiac troponin I on the postoperative day 1 and a significant gradual decrease on the day 2, 3, 7. The levels of cardiac troponin I were the highest in the transposition of great artery(TGA) repair on the postoperative day 1 and high in the tetralogy of Fallot(TOF), atioventricular septal defect (AVSD), ventricular septal defect(VSD) and atrial septal defect(ASD) repair with decreasing sequence. The longer duration of CPB, ACC and intubation, the higher of cardiac troponin I, but there were no significant correlations between cardiac troponin I levels and duration of hospital stay. Conclusion : Because there was significant increases or decreases of cardiac troponin I according to the perioperative time and types of the congenital heart disease, it is a worthy biochemical marker which reflects the extent of perioperative myocardial injury and recovery after open heart surgery.

Left Ventricular Function in Children and Adolescents With Type 1 Diabetes Mellitus

김은하,김여향 대한심장학회 2010 Korean Circulation Journal Vol.40 No.3

Background and Objectives: Adult studies have reported that patients with diabetes mellitus (DM) show ultrastructural and functional myocardial deterioration. The aim of this study was to assess whether cardiac functional deterioration can be detected in pediatric patients with type I DM and whether or not a relatively short duration of DM and hyperglycemia influences cardiac function. Subjects and Methods: Forty-seven children and adolescents with DM and 38 healthy subjects (control group) were enrolled. Glycosylated hemoglobin (HbA1c), DMinduced complications, and left ventricular (LV) function as assessed using conventional and unconventional echocardiography {tissue Doppler imaging (TDI) and vector velocity imaging (VVI)} were evaluated. Results: The conventional echocardiographic parameters, with the exception of early peak mitral inflow velocity, the findings of pulsed wave TDI at the annular level, and regional ventricular function by VVI, were not significantly different between the two groups. Using the conventional and unconventional indices of systolic and diastolic function, no significant relationship was found between the duration of DM and the echocardiographic parameters. The deceleration time (DT) and E’/A’ had an inverse correlation with HbA1c (p=0.042 and p=0.016, respectively). Conclusion: Patients with DM in childhood and early adolescence rarely have insight on the significance of DM,and their diet is difficult to control. An alteration of myocardial function induced by DM may begin earlier than generally thought, and these changes are accelerated when glycemic control is poor. We recommend the early institution of close observation of patients with diabetes for alterations in cardiac function, in addition to other diabetic complications.