A 2.5-kg neonate with coarctation of the aorta and a small left ventricle experienced a severe pulmonary hypertensive crisis. An emergency pulmonary artery-to-systemic artery shunt was placed to break the positive feedback loop caused by pulmonary hypertension and functional mitral stenosis. This shunt provided immediate relief of suprasystemic pulmonary hypertension and the resultant low cardiac output.
Aortic Coarctation ; Arteries ; Cardiac Output, Low ; Emergencies ; Heart Ventricles ; Humans ; Hypertension, Pulmonary ; Hypoplastic Left Heart Syndrome ; Infant, Newborn ; Mitral Valve Stenosis

BACKGROUND: This study aimed to determine the effect of a multidisciplinary approach on the birth rate of fetuses with prenatally diagnosed congenital heart diseases (CHDs). METHODS: Among the fetuses of 724 gravidas who underwent fetal echocardiography in Samsung Medical Center from January 2013 to June 2017, 463 fetuses with normal cardiac structure, arrhythmia or simple left-to-right shunt were excluded, and the remaining 261 were included in the study. The subjects were subdivided into groups based on whether they were consulted multidisciplinarily, that is, consulted simultaneously by pediatric cardiologists, obstetricians and pediatric cardiac surgeons or not. They were also categorized based on the initial fetal echocardiogram results. RESULTS: Among the fetuses in the multidisciplinary group, 64.5% of the fetuses were given birth to, and the proportion was not different from that in the non-multidisciplinary group (68.6%, P = 0.48). The delivery rate in the multidisciplinary consultation group were 69.2% in the transposition of the great arteries group, 63.6% in the tetralogy of Fallot group, 68.8% in the pulmonary atresia or interrupted aortic arch group, 62.5% in the coarctation of aorta group, 60.0% in the atrioventricular septal defect group, 70.0% in the functional single ventricle group, and 55.6% in the hypoplastic left heart syndrome group; there were no significant differences between the 10 echocardiogram groups. However, when the subjects were categorized into Fontan repair group and biventricular repair group, the Fontan repair group showed a significant increase in the likelihood of delivery when a multidisciplinary approach was taken (P = 0.035). CONCLUSION: When a fetus was diagnosed with a CHD where Fontan repair should be considered, a multidisciplinary approach resulted in increased possibility of delivery.
Aorta, Thoracic ; Aortic Coarctation ; Arrhythmias, Cardiac ; Arteries ; Birth Rate ; Echocardiography ; Fetus ; Heart Defects, Congenital ; Heart Diseases ; Hypoplastic Left Heart Syndrome ; Parturition ; Prenatal Diagnosis ; Pulmonary Atresia ; Surgeons ; Tetralogy of Fallot

Prenatal intervention of severe fetal aortic valve stenosis by ultrasound-guided percutaneous balloon valvuloplasty has been performed to prevent the progression to hypoplastic left heart syndrome, and achieve biventricular circulation in neonates. Here we report a case of fetal aortic valvuloplasty prenatally diagnosed with aortic stenosis at 24 weeks of gestation and showed worsening features on a follow-up echocardiography. Prenatal aortic valvuloplasty was performed at 29 weeks of gestation, and was a technical success. However, fetal bradycardia sustained, and an emergency cesarean delivery was performed. To the best of our knowledge, this is the first reported case of fetal aortic valvuloplasty which was performed in Asia.
Aortic Valve Stenosis ; Asia* ; Balloon Valvuloplasty ; Bradycardia ; Echocardiography ; Emergencies ; Fetal Heart ; Fetal Therapies ; Follow-Up Studies ; Humans ; Hypoplastic Left Heart Syndrome ; Infant, Newborn ; Pregnancy ; Prenatal Diagnosis

Hypoplastic left heart complex (HLHC) consists of less severe underdevelopment of the left ventricle without intrinsic left valvular stenosis, i.e., a subset of hypoplastic left heart syndrome (HLHS). HLHC patients may be able to undergo biventricular repair, while HLHS requires single ventricle palliation (or transplant). However, there is no consensus regarding the likelihood of favorable outcomes in neonates with HLHC selected to undergo this surgical approach. This case report describes a neonate with HLHC, co-arctation of the aorta (CoA), and patent ductus arteriosus (PDA) who was initially palliated using bilateral pulmonary artery banding due to unstable ductus-dependent circulation. A postoperative echocardiogram showed newly appearing CoA and progressively narrowing PDA, which resulted in the need for biventricular repair 21 days following the palliation surgery. The patient was discharged on postoperative day 13 without complications and is doing clinically well seven months after surgery.
Aorta ; Consensus ; Constriction, Pathologic ; Ductus Arteriosus, Patent ; Heart Defects, Congenital ; Heart Ventricles ; Heart* ; Humans ; Hypoplastic Left Heart Syndrome ; Infant, Newborn* ; Pulmonary Artery*

We report multidetector computed tomography (MDCT) and cardiac magnetic resonance (CMR) findings of a 34-year-old female with isolated left ventricular apical hypoplasia. The MDCT and CMR scans displayed a spherical left ventricle (LV) with extensive fatty infiltration within the myocardium at the apex, interventricular septum and inferior wall, anteroapical origin of the papillary muscle, right ventricle wrapping around the deficient LV apex, and impaired systolic function. MDCT visualized morphologic and also functional findings of this unique cardiomyopathy.
Adult ; Cardiomyopathy, Dilated/*radiography ; Female ; Heart Ventricles/*radiography ; Humans ; Hypoplastic Left Heart Syndrome/*radiography ; Imaging, Three-Dimensional/*methods ; Multidetector Computed Tomography/*methods ; Myocardium/pathology

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

Humans ; Hypoplastic Left Heart Syndrome

Retroesophageal aortic arch, in which the aortic arch crosses the midline behind the esophagus to the contralateral side, is a rare form of vascular anomaly. The complete form may cause symptoms by compressing the esophagus or the trachea and need a surgical intervention. We report a rare case of a hypoplastic left heart syndrome variant with the left retroesophageal circumflex aortic arch in which the left aortic arch, retroesophageal circumflex aorta, and the right descending aorta with the aberrant right subclavian artery encircle the esophagus completely, thus causing central bronchial compression. Bilateral pulmonary artery banding and subsequent modified Norwood procedure with extensive mobilization and creation of the neo-aorta were performed. As a result of the successful translocation of the aorta, the airway compression was relieved. The patient underwent the second-stage operation and is doing well currently.
Aorta ; Aorta, Thoracic* ; Esophagus ; Heart Defects, Congenital ; Humans ; Hypoplastic Left Heart Syndrome* ; Norwood Procedures* ; Pulmonary Artery ; Subclavian Artery ; Trachea

A 2-year-old boy with hypoplastic left heart syndrome that required multiple cardiovascular surgeries and a heterozygous prothrombin G20210A mutation with resulting thrombophilia maintained on warfarin presented with acute right middle cerebral artery (MCA) infarction manifesting as a left hemiplegia. An MRI revealed a complete occlusion of the right M1 segment with an area of restricted diffusion in the right basal ganglia representing only a small area of acute infarction. Patchy areas of subacute infarction were also present in the right MCA territory. He underwent endovascular mechanical thrombectomy with a stent retriever. This is an account of a successful mechanical thrombectomy performed in the youngest patient reported in the English literature to date.
Basal Ganglia ; Catheters* ; Child, Preschool* ; Diffusion ; Hemiplegia ; Humans ; Hypoplastic Left Heart Syndrome ; Infarction ; Magnetic Resonance Imaging ; Male ; Middle Cerebral Artery ; Prothrombin ; Stents ; Thrombectomy* ; Thrombophilia ; Warfarin

OBJECTIVE: To discuss the value of fetal pulmonary venous Doppler flow patterns in hypoplastic left heart syndrome (HLHS). METHODS: Forty-six HLHS and 180 normal singleton fetuses at 24+0 to 37+6 weeks of gestation were enrolled in this study. The blood flow of pulmonary vein (PV) was detected by color Doppler ultrasound. The systolic wave of ventricle (S-wave), diastolic wave of ventricle (D-wave), atrial contraction wave (A-wave) and S/D ratio of PV were measured. The statistical difference in the above parameters between HLHS and normal fetuses was compared. The diagnosis was also confirmed by autopsy in still birth or postnatal follow-up when the baby was alive. RESULTS: The PV blood flow in HLHS fetuses had a high possibility of reversed A wave, and the velocity of S wave and S/D ratio were higher than the matched normal controls (P<0.001). There were 3 types of PV blood flow patterns among all fetuses with HLHS. Both the cases with right to left shunt through foramen ovale (FO) and the cases with restricted left to right shunt at FO showed the triphasic patterns of PV with antegrade S wave, D wave and retrograde A wave. However, the latter had a higher velocity of retrograde A wave (P<0.001), lower D wave (P<0.001), and obviously elevated S wave and S/D ratio (P<0.001). The cases with intact interatrial septum showed short and apparent pulsatile back and forth blood flow in the PV, which displayed as absence of D wave. CONCLUSION The 3 types of PV blood flow patterns in the fetuses with HLHS reflect the severity of hypertension in the left atrium, which is extremely vital for the prognosis and the perinatal treatment plan.
Diastole ; Echocardiography, Doppler ; Female ; Fetus ; Heart Atria ; Heart Ventricles ; Humans ; Hypoplastic Left Heart Syndrome ; diagnosis ; Pregnancy ; Pulmonary Veins ; Systole ; Ultrasonography, Prenatal