Early Detection of Isolated Severe Congenital Heart Defects Is Associated with a Lower Threshold to Terminate the Pregnancy.

INTRODUCTION: Early detection of isolated severe congenital heart defects (CHDs) allows extra time for chromosomal analysis and informed decision making, resulting in improved perinatal management and patient satisfaction. Therefore, the aim of this study was to assess the value of an additional first-trimester screening scan compared to only a second-trimester scan in fetuses diagnosed with isolated severe CHDs. Prenatal detection rate, time of prenatal diagnosis, and pregnancy outcome were evaluated in the Netherlands after implementation of a national screening program. MATERIALS AND METHODS: We performed a retrospective geographical cohort study and included 264 pre- and postnatally diagnosed isolated severe CHD cases between January 1, 2007, and December 31, 2015, in the Amsterdam region. Severe CHD was defined as potentially life threatening if intervention within the first year of life was required. Two groups were defined: those with a first- and second-trimester anomaly scan (group 1) and those with a second-trimester anomaly scan only (group 2). A first-trimester scan was defined as a scan between 11 + 0 and 13 + 6 weeks of gestation. RESULTS: Overall, the prenatal detection rate for isolated severe CHDs was 65%; 63% were detected before 24 weeks of gestation (97% of all prenatally detected CHDs). Prenatal detection rate was 70.2% in the group with a first- and second-trimester scan (group 1) and 58% in the group with a second-trimester scan only (group 2) (p < 0.05). Median gestational age at detection was 19 + 6 (interquartile range [IQR] 15 + 4 - 20 + 5) in group 1 versus 20 + 3 (IQR: 20 + 0 - 21 + 1) in group 2 (p < 0.001). In group 1, 22% were diagnosed before 18 weeks of gestation. Termination of pregnancy rate in group 1 and group 2 were 48% and 27%, respectively (p < 0.01). Median gestational age at termination did not differ between the two groups. CONCLUSION: Prenatal detection rate of isolated severe CHDs and termination of pregnancy rate was higher in the group with both a first- and second-trimester scan. We found no differences between timing of terminations. The additional time after diagnosis allows for additional genetic testing and optimal counseling of expectant parents regarding prognosis and perinatal management, so that well-informed decisions can be made.

Fever-induced life-threatening arrhythmias in children harboring an SCN5A mutation.

Cardiac channelopathies caused by SCN5A mutation are well tolerated by most patients. However, the dramatic presentation of a previously healthy 4-month-old girl with life-threatening arrhythmias and the subsequent findings in the child and her family provide evidence that loss-of-function sodium channel mutations can present very early in life. An SCN5A mutation was detected in the infant, her brother, and their father. Both the siblings manifested recurrent serious arrhythmias during febrile episodes, which followed immunization, as well as fever of nonspecific origin. Management consisted of prompt antipyretic measures, hospitalization with vigorous monitoring during immunization and febrile episodes, and prevention of tachycardia-induced conduction disturbance with ß-blockers.

Left atrial isomerism: biventricular repair.

OBJECTIVE: Biventricular repair of hearts with left atrial isomerism often necessitates complex atrial and ventricular baffle procedures. We analysed our experience with an accent on baffle techniques. METHODS: From 1997 until 2008, 12 patients (four male) with left atrial isomerism received biventricular repair. Their median age at surgery was 9 (range: 1-24) months. Four patients had dextrocardia. Nine patients presented with left superior vena cava, three with absent right superior vena cava, five with unroofed coronary sinus and nine others with inferior vena cava interruption with (hemi)azygos continuation. Anomalous pulmonary venous drainage was present in three patients. Eight had a monoatrium. Atrioventricular septal defect (AVSD) occurred in six (complete AVSD in two), One patient with complete AVSD had right pulmonary agenesia with long segment tracheal stenosis. Multiple VSDs presented in one whereas three patients had double-outlet right ventricle (DORV) (one with borderline LV hypoplasia). Two had previous pulmonary artery banding. Complex intra-atrial baffle constructions were performed in seven patients. Complete AVSDs were corrected using two patches and all other AVSDs had one patch repair. Multiple VSDs were closed directly. DORV patients had intraventricular tunnel repair. RESULTS: No early mortality occurred. Median follow-up was 54 (range: 2-134) months. One patient with complete AVSD and pulmonary agenesia died late after tracheal repair. Four patients needed five re-operations (closure of residual ASD (one), relief of left (two) or right (two) ventricular outflow obstruction, pulmonary artery branch plasty (one)). There was no atrial baffle stenosis. Four received a pacemaker. All survivors are in NYHA class I. CONCLUSIONS: Survival and functional status of left isomerism patients after biventricular repair is good. Complex repairs with atrial or ventricular baffles are frequent. Arrhythmias were common and pose a concern late after repair.