A novel mutation in CDKN1C in sibs with Beckwith–Wiedemann syndrome and cleft palate,sensorineural hearing loss,and supernumerary flexion creases

We report on two daughters and a son of a Thai family who were affected with BWS. Their clinical findings consist of cleft palate, omphalocele, anterior ear creases, indented lesions on the posterior rim of the helix, macroglossia, posterior crossbite, and anterior open bite. The younger daughter and son had newly recognized findings of the BWS including sensorineural hearing loss and supernumerary flexion creases of the fingers. A novel mutation in CDKN1C (c.579delT; p.A193AfsX46) was found in all affected individuals and their mother. This mutation is located in the central highly polymorphic hexanucleotide repeat encoding a proline‐alanine series of repeats (PAPA‐domain). This domain is involved in MAP kinase phosphorylation. This is for the first time that sensorineural hearing loss and supernumerary flexion creases of the fingers are associated with mutation in CDKN1C. © 2012 Wiley Periodicals, Inc.     

Prenatal sonographic features of isolated hypoplastic left heart syndrome

Hypoplastic left heart syndrome (HLHS) is a spectrum of fetal conditions associated with severe hypoplasia of the left ventricle and left ventricular outflow tract. The purpose of this series was to focus on the sonographic prenatal features of isolated HLHS. Based on the 5 cases presented here, the prenatal sonographic features of HLHS include small-sized left ventricle, atretic or hypoplastic mitral valves with restricted motion and a small amount of antegrade flow or regurgitation, and hypoplastic ascending aorta. Retrograde flow in the transverse aortic arch strongly suggests inadequate systemic output from the left heart. Tricuspid regurgitation is common and increases the chance for the development of hydrops. Other findings may be helpful, including left ventricular hyperechoic endocardium and increased nuchal translucency at 11-14 weeks. With careful fetal echocardiography, HLHS may be readily observed on a 4-chamber view as either a small or even absent left ventricle.     

Epidemiologic study of Kawasaki disease and cases resistant to IVIG therapy in Thailand

The incidence of Kawasaki disease (KD) in Thailand has never been studied before. We reviewed the data from the National Registry of Thai Children who had KD between 1998-2002 to evaluate the incidence of KD and cases resistant to treatment with intravenous immunoglobulin (IVIG). Resistance to IVIG was defined as remaining febrile at least 48 hours after initial IVIG therapy. There were 710 KD patients in the registry. The incidence of KD was from 2.14 to 3.43 cases per 100,000 children aged 0-5 years. During the acute phase 15.6% of 435 patients were considered as resistant cases. Resistant cases of KD in Thai children are quite common (15.6%) even after IVIG treatment. We found that patients who had high white blood cell counts (> 16,500 cells/mm3) had a higher likelihood of being resistant.     

Echocardiographic assessment of obstructive lesions in atrioventricular septal defects.

OBJECTIVES: We sought to determine the accuracy of transthoracic echocardiography (TTE) in identifying risk factors in patients with an atrioventricular septal defect (AVSD). BACKGROUND: Atrioventricular septal defect is a common lesion, and many decisions about it are based on echocardiography alone. The identification of associated left-sided inflow and outflow obstructive lesions is important, as they are responsible for mortality and morbidity. METHODS: Between 1983 to 1998, 549 patients with AVSD underwent repair. The TTE findings were correlated with surgery, angiocardiography, autopsy or postoperative TTE. Papillary muscle measurements were made in those with either a left ventricular outflow tract (LVOT) or left ventricular inflow abnormality and compared with those measurements from control subjects. Measurements of the LVOT were made in patients with an identified LVOT abnormality. RESULTS: There were 63 missed lesions, decreasing over time. Double-orifice left atrioventricular valve (DOLAVV) and nonobstructive chordae in the LVOT were more often missed. Reoperation was performed to address a missed lesion in 2 of 68 patients. Two of 55 patients died of reasons related to a missed lesion. In 67% of patients, DOLAVV was missed. Abnormal papillary muscle angles were seen with either a LVOT abnormality or DOLAVV. High insertion of the anterolateral papillary muscle was a risk factor for death or residual LVOT obstruction. Abnormal LVOT measurements were found in patients with tunnel obstruction and those with an acquired subaortic ridge. CONCLUSIONS: Transthoracic echocardiography provides accurate preoperative information on AVSD.     

Prenatal sonographic monitoring of progressive cardiac damages caused by anti‐Ro antibodies: A case report

Maternal autoantibodies to Ro/SSA are often linked to congenital heart block and rarely associated with structural defects. We describe the case of a fetus with anti‐Ro‐mediated second‐degree block at 19 weeks, which progressed to a complete block, fibroelastosis, atrioventricular valve insufficiency, and semilunar valve stenosis/insufficiency at 20, 22, 24, and 26 weeks, respectively, although the fetus received transplacental anti‐arrhythmic drugs. The 2150‐g fetus was vaginally delivered at 35 weeks. An external pacemaker was inserted immediately after birth and replaced with permanent pacemaker at the age of 3 months. The newborn has had a good outcome with well‐controlled heart rate.     

Pregnancy outcome in Thai patients with systemic lupus erythematosus.

The outcome of 48 pregnancies from 42 patients with systemic lupus erythematosus was studied. Their mean age and the duration of the disease were 28.47 and 4.42 years, respectively. The conception occurred when the disease was inactive or quiescent in 45 and active in 3. Four pregnancies were terminated by criminal abortion. Flares occurred in 16 pregnancies. The kidney and mucocutaneous system were the 2 organs that flared most commonly. The fetal outcomes were term delivery in 18 (40.90%), prematurity in 17 (38.64%), spontaneous abortion in 6 (13.64%) and still birth in 3 (6.82%). There was no statistical difference in pregnancy loss and successful delivery between pregnant patients with and without flares. Concerning 35 successful live births, those pregnancies without flares had significantly more full term deliveries (p < 0.02), higher gestational age (p < 0.002) and more birth weight (p < 0.001) than those with flares. Small for gestational age was seen in 20%. Pregnancy with active renal disease had a poor fetal outcome. There were no cases of congenital anomalies or neonatal lupus. Maternal complications were more common in patients with flares.     

Outcomes of tricuspid atresia in the Fontan era

BACKGROUND: Whereas indications expand and results improve with increasing refinements to the Fontan procedure the overall impact on outcomes related to tricuspid atresia remains suboptimally defined. METHODS: We reviewed 225 consecutive patients presenting between 1971 and 1999. All patients had classic tricuspid atresia with absent right atrioventricular connection and with D-transposition of the great arteries in 21%, pulmonary outflow obstruction in 75%, and aortic outflow obstruction in 11%. RESULTS: Ten patients died before any intervention and 3 patients were lost to follow-up. Palliative procedures (includes 151 with systemic shunt, 27 pulmonary artery banding, 60 venous shunt) were performed in 203 patients, with 44 deaths, 8 patients awaiting Fontan, 12 patients Fontan contraindicated, and 11 patients lost-to-follow-up. A total of 137 patients had the Fontan procedure (9 patients without previous procedures) with 7 early deaths, 11 late deaths, and 3 patients progressing to heart transplantation. Total survival for the cohort was 90% at the age of 1 month, 81% at 1 year, 70% at 10 years, and 60% at 20 years with no significant change over the time period. Independent factors associated with ineligibility or death without Fontan (n = 68, 30%) included earlier birth date, lower birth weight, presence of aortic arch anomaly and greater right ventricular hypoplasia, and no palliative procedure. There were no significant changes in mortality with Fontan over the study time period with survival of 95% at 1 month, 93% at 1year, and 82% at 10 years. CONCLUSIONS: Improvements in outcomes with tricuspid atresia will require attention to management and risk factors before Fontan.     

Critical aortic stenosis in the neonate: a multi-institutional study of management, outcomes, and risk factors. Congenital Heart Surgeons Society

OBJECTIVES: We sought to determine factors that would predict whether a biventricular repair or Norwood procedure pathway would give the best survival in neonates with critical aortic stenosis. METHODS: Survival and risk factors were determined with parametric time-dependent event analysis for patients undergoing either the Norwood procedure or biventricular repair, and predicted optimal pathway and survival benefit were derived from multivariable linear regression. RESULTS: From 1994 to 2000, 320 neonates with critical left ventricular outflow obstruction were entered into a prospective multi-institutional study. Patients who died without intervention (n = 19) and those with primary cardiac transplantation (n = 6) were excluded. An initial intended biventricular repair pathway was indicated in 116 patients, with survival of 70% at 5 years. An initial Norwood procedure was performed in 179 patients, with survival of 60% at 5 years. Using predictions from separate multivariable hazard models for survival with each of the 2 pathways, we determined predicted optimal pathway and survival benefit for each patient. Significant independent factors associated with greater survival benefit for the Norwood procedure versus biventricular repair included younger age at entry, lower z-score of the aortic valve and left ventricular length, higher grade of endocardial fibroelastosis, absence of important tricuspid regurgitation, and larger ascending aorta. Predicted survival benefit favored the Norwood procedure in 50% of patients who had biventricular repair, and it favored biventricular repair in 20% of patients who had the Norwood procedure. CONCLUSIONS: Morphologic and functional factors can be used to predict optimal pathway and survival benefit in neonates with critical left ventricular outflow obstruction.