Fetal Left Ventricular Apical Aneurysm Progressing to Dilated Cardiomyopathy Due to Glycogen Storage Disease.

Fetal dilated cardiomyopathy is a rare anomaly characterized by ventricular dilation and dysfunction. Its causes are diverse, and its outcomes are generally dismal. We describe a rare case of prenatally diagnosed left ventricular apical aneurysm that progressed rapidly to dilated cardiomyopathy. At age 2 months, the infant underwent heart transplantation. Pathologic examination of the explanted heart revealed that the cause of the dilated cardiomyopathy was glycogen storage disease. This case highlights the crucial roles of timely diagnosis, frequent close monitoring, and multidisciplinary care in achieving a successful postnatal outcome.

Optimizing evaluation in pediatric and young adult patients with Marfan syndrome: Novel longitudinal metrics to track growth of aortic structures.

OBJECTIVE: Surveillance metrics in pediatric and young adult Marfan syndrome (pMFS) are challenging. We evaluated the utility of aortic root cross-sectional area/height index (CSA/Ht) on echocardiogram among pMFS patients as a risk stratification and surgical triage metric. METHODS: Genotype or phenotype positive pMFS patients aged 25 years or younger seen at our center from 2001 to 2020 were identified. Time-related transition to surgery was modeled using parametric methods. Predictive utility of CSA/Ht compared with aortic root diameter (ARd) and root Z score (ARz) were modeled using nonlinear multivariable parametric and nonparametric longitudinal regression models. RESULTS: Seventy-nine patients (43% female) presented at median age of 5.8 years (15th-85th percentile, 0.75-17 years) with median follow-up of 4.4 years (range, 0-18.5 years). Baseline echocardiography data were: CSA/Ht, 3.9 ± 1.4 cm2/m; ARd, 2.4 ± 0.89 cm; and ARz, 2.4 ± 1.7. CSA/Ht tracked ARd better compared with ARz (r = 0.91 vs 0.24). Eighteen patients underwent surgery. Surgical procedures included at least 2 components in 17 (aortic, mitral, tricuspid, aortic root, and arch procedures) and isolated mitral valve procedures in 1 patient. Time-related transition to surgery showed a prominent early phase to 1 year post presentation, followed by a slowly increasing late phase. CSA/Ht had a more linear correlation versus ARz during periods of rapid somatic growth in surgical patients. Surgical repair occurred at CSA/Ht between 5 and 7 cm2/m. CONCLUSIONS: CSA/Ht tracked ARd well over time. CSA/Ht between 5 and 7 cm2/m might be a promising metric for surgical triage in pMFS patients. CSA/Ht surgical threshold values in pMFS patients occurred at lower than current accepted "surgical" threshold values for CSA/Ht in adult Marfan syndrome patients.

Life saved and a lesson learned-anomalous origin of the left coronary artery from pulmonary artery in pregnancy.

Anomalous origin of the left coronary artery from pulmonary artery constitutes 0.5% of all CHD (Boutsikou M, Shore D, Li W, et al, Int J Cardiol 261: 49-53, 2018). Fifteen percent survive into adulthood undiagnosed and 90% present with sudden death (Yau JM, Singh R, Halpern EJ, Fischman D, Clin Cardiol 34: 204-210, 2011; Alexi-Meskishvili V, Berger F, Weng Y, Lange PE, Hetzer R, J Card Surg 10: 309-315, 1995). We describe an enigmatic case of a 29-year-old female who presented after an aborted cardiac arrest and was diagnosed with anomalous origin of the left coronary artery from pulmonary artery.

Prenatal Delineation of Coronary Anatomy in Dextro-Transposition of Great Arteries.

BACKGROUND: Dextro-transposition of the great arteries (D-TGA) is the second-most common cyanotic congenital heart disease with variable coronary artery anatomy. The arterial switch procedure has revolutionized outcomes for this defect, with coronary anatomy being a key determinant of both short- and long-term outcomes following surgical repair. The assessment of coronary anatomy is usually undertaken in the postnatal period by transthoracic echocardiography, with assessment prenatally not being well studied. We sought to assess the feasibility of delineating the coronary arteries on fetal echocardiograms in a small cohort of patients followed prenatally. METHODS: This was a retrospective review of fetuses with D-TGA from 2008 to 2018. Patients with prenatal diagnosis of D-TGA were reviewed for the assessment of coronary artery anatomy. Details of coronary artery anatomy diagnosed prenatally were compared with postnatal transthoracic echocardiograms and intraoperative findings. RESULTS: Thirty-four fetuses with findings of D-TGA on prenatal echocardiograms were reviewed. 14/34 fetuses had attempted delineation of coronary artery anatomy, with average gestational age of 28 weeks (range 23-31 weeks) at the time of diagnosis. Two-dimensional and color Doppler imaging of the coronary arteries on both short and long axis images were performed, with complete delineation being possible in ~ 86% of fetuses. These findings were confirmed postnatally. CONCLUSIONS: Fetuses with D-TGA can have variable coronary artery anatomy which drives postnatal outcomes. Our study describes a cohort of patients with D-TGA wherein coronary artery anatomy was assessed. We demonstrate that coronary artery evaluation is feasible prenatally with optimal imaging techniques, being more successful after 25 weeks' gestation. The potential knowledge of dangerous variants can help with referral to centers of excellence for appropriate postnatal management and facilitate prenatal care accordingly.

Left Atrial Strain and Function in Pediatric Hypertrophic Cardiomyopathy.

BACKGROUND: Left atrial (LA) strain and dysfunction are early markers of diastolic dysfunction, associated with poor exercise capacity in adults with hypertrophic cardiomyopathy (HCM). Literature on assessment of LA mechanics in pediatric HCM is lacking. The aim of this study was to assess LA strain and LA function in pediatric patients who have HCM with (phenotype positive [P+]) and without (genotype positive, phenotype negative [G+P-]) ventricular hypertrophy and evaluate their correlation with exercise stress test parameters. METHODS: Seventy-eight children (3-25 years of age) with HCM (P+, n = 46; G+P-, n = 32) and 20 healthy control subjects were retrospectively studied. LA conduit function, reservoir function, and pump function were computed using phasic LA volumetric analysis. LA reservoir strain (LASr) and LA contractile strain were measured using speckle-tracking echocardiography. Exercise test findings within 12 months of echocardiography were recorded. RESULTS: LA conduit function (36% vs 48%, P < .001) and LA reservoir function (137% vs 180%, P < .001) were lower in P+ than in G+P- patients. LA contractile function did not differ between the groups (31% vs 32%, P = .87). Compared with patients with G+P- HCM, those with P+HCM had lower four-chamber LASr (29% vs 41%, P < .001), two-chamber LASr (30% vs 41%, P < .001), average LASr (29% vs 42%, P < .001), and LA contractile strain (9% vs 12%, P = .016). In the cohort of patients with HCM who underwent stress testing (n = 35), LA conduit function weakly correlated with aerobic capacity (r = 0.42, P = .019). CONCLUSIONS: Children with P+HCM have reduced LA function, measurable by both volumetric and strain analysis. Altered LA mechanics are associated with poor exercise capacity. This study lays the foundation for the evaluation of novel LA parameters in pediatric HCM and warrants larger longitudinal studies to assess its clinical significance.

Unusual coronary artery arrangement in D-transposition of the great arteries with ventricular septal defect.

A term female with prenatally diagnosed D-Transposition of the great arteries, large membranous ventricular septal defect with inlet extension, moderate secundum atrial septal defect, and large patent ductus arteriosus (Fig 1) was born by scheduled caesarean section. Transthoracic echocardiogram confirmed the anatomy with both coronary arteries arising from a single sinus with separate ostia. The right coronary artery arose from right posterior facing sinus (Fig 2). The left coronary artery arose anomalously from the same sinus adjacent to the right coronary artery ostium, coursing posterior to the aorta, with brief intramural and interarterial course before bifurcating into the left anterior descending and left circumflex coronary arteries (Figs 3 and 4). As a result of this unique coronary pattern, she underwent unroofing of the intramural left coronary artery noted on opening the aortic root to the coronary ostium. Both coronary buttons were harvested and this large button was then divided into two buttons. The left coronary artery button was implanted with a trapdoor technique, right coronary artery button was implanted, and the remainder of the arterial switch procedure along with LeCompte maneuver was completed uneventfully, with closure of the atrial and ventricular septal defects. The post-operative course was uneventful and the patient was discharged on the seventh post-operative day. At discharge, the patient had normal biventricular systolic function, no residual intracardiac shunt, and robust antegrade flow in the reimplanted coronary arteries. The patient was growing well at the fourth month post-operative visit with normal biventricular function, patent coronaries, and outflow tracts.

Selective Coronary Artery Angiography in Hypoplastic Left Heart Syndrome.

Coronary artery disease in palliated hypoplastic left heart syndrome is uncommon. Myocardial infarction from a coronary thrombus, serving as a substrate for ventricular arrhythmia in Fontan physiology, is under-reported despite known hypercoagulopathic state. Traditional risk factors for coronary artery occlusion include intracardiac thrombi, hyperlipidemia, and hypertension. Baffle leaks and abnormal ventriculocoronary fistulae found in these patients are contributing factors. We sought to assess and describe coronary artery involvement in this complex patient population. Our research highlights both the need to assess distal coronary vasculature and to thoroughly evaluate hemodynamics and biventricular function with new-onset troponin leak or ventricular arrhythmias.

Risk Factors for Mortality and Circulatory Outcome Among Neonates Prenatally Diagnosed With Ebstein Anomaly or Tricuspid Valve Dysplasia: A Multicenter Study.

Background In a recent multicenter study of perinatal outcome in fetuses with Ebstein anomaly or tricuspid valve dysplasia, we found that one third of live-born patients died before hospital discharge. We sought to further describe postnatal management strategies and to define risk factors for neonatal mortality and circulatory outcome at discharge. Methods and Results This 23-center, retrospective study from 2005 to 2011 included 243 fetuses with Ebstein anomaly or tricuspid valve dysplasia. Among live-born patients, clinical and echocardiographic factors were evaluated for association with neonatal mortality and palliated versus biventricular circulation at discharge. Of 176 live-born patients, 7 received comfort care, 11 died <24 hours after birth, and 4 had insufficient data. Among 154 remaining patients, 38 (25%) did not survive to discharge. Nearly half (46%) underwent intervention. Mortality differed by procedure; no deaths occurred in patients who underwent right ventricular exclusion. At discharge, 56% of the cohort had a biventricular circulation (13% following intervention) and 19% were palliated. Lower tricuspid regurgitation jet velocity (odds ratio [OR], 2.3 [1.1-5.0], 95% CI, per m/s; P=0.025) and lack of antegrade flow across the pulmonary valve (OR, 4.5 [1.3-14.2]; P=0.015) were associated with neonatal mortality by multivariable logistic regression. These variables, along with smaller pulmonary valve dimension, were also associated with a palliated outcome. Conclusions Among neonates with Ebstein anomaly or tricuspid valve dysplasia diagnosed in utero, a variety of management strategies were used across centers, with poor outcomes overall. High-risk patients with low tricuspid regurgitation jet velocity and no antegrade pulmonary blood flow should be considered for right ventricular exclusion to optimize their chance of survival.

Outcomes of truncus arteriosus repair and predictors of mortality.

OBJECTIVE: The objective of this study was to identify patient and hospitalization characteristics associated with in-hospital mortality in infants with truncus arteriosus. METHODS: We conducted a retrospective analysis of a large administrative database, the National Inpatient Sample data set of the Healthcare Cost and Utilization Project for the years 2002 to 2017. We also sought to evaluate the resource utilization in the subgroup of subjects with truncus arteriosus and 22q11.2 deletion syndrome. Neonates with truncus arteriosus were identified by ICD-9 and ICD-10 codes. Hospital and patient factors associated with inpatient mortality were analyzed. RESULTS: Overall, 3009 neonates met inclusion criteria; a total of 326 patients died during the hospitalization (10.8%). Extracorporeal membrane oxygenation utilization was 7.1%. Univariate and multivariate logistic regression analyses were used to identify risk factors for in-hospital mortality. Significant risk factors for mortality were prematurity (adjusted odds ratio [aOR] = 2.43; 95% confidence interval [CI]: 1.40-4.22; P = .002), diagnosis of stroke (aOR = 26.2; 95% CI: 10.1-68.1; P < .001), necrotizing enterocolitis (aOR = 3.10; 95% CI: 1.24-7.74; P = .015) and presence of venous thrombosis (aOR = 13.5; 95% CI: 6.7-27.2; P < .001). Patients who received extracorporeal membrane oxygenation support or had cardiac catheterization procedure during the hospitalization had increased odds of mortality (aOR = 82.0; 95% CI: 44.5-151.4; P < .001, and aOR = 1.65; 95% CI: 0.98-2.77; P = .060, respectively). CONCLUSION: 22q11.2 deletion syndrome was associated with an inverse risk of death despite having more noncardiac comorbidities; this patient subpopulation also had a higher length of stay and increased cost of hospitalization.

Failure of Cellularization of Ventriculotomy Patch Leading to Right Ventricular Pseudoaneurysm.

Enlargement of the bulboventricular foramen (BVF) in double-inlet left ventricle or the ventricular septal defect (VSD) in tricuspid atresia with transposition of the great arteries is one approach for prevention or treatment of systemic ventricular outflow obstruction. Most often, BVF/VSD restriction is bypassed preemptively or addressed directly at the time of Glenn/Fontan procedures as part of staged univentricular palliation. We describe a patient who underwent enlargement of a restrictive VSD during Fontan completion and subsequently presented with an asymptomatic pseudoaneurysm of the right ventricle at the ventriculotomy site.

Short-term results in infants with multiple left heart obstructive lesions.

OBJECTIVE: Deciding on a surgical pathway for neonates with ≥2 left heart obstructive lesions is complex. Predictors of the successful biventricular (2V) repair in these patients are poorly defined. The goal of our study was to identify patients who underwent the 2V repair and assess anatomic and echocardiographic predictors of success. DESIGN: Infants born between July 2015 and August 2017 with ≥2 left heart obstructive lesions with no prior interventions were identified (n = 19). Patients with aortic or mitral valve (MV) atresia and critical aortic stenosis were excluded. Initial echocardiograms were reviewed for aortic, MV, tricuspid valve annulus size, and left (LV) and right (RV) ventricle diastolic longitudinal dimensions. The valve morphology and presence of a ventricular septal defect (VSD) and coarctation were assessed. Clinical outcomes included successful 2V repair, complications, and repeat interventions or surgeries. Failed 2V repair was defined as a takedown to single ventricle (1V) physiology, cardiac transplantation, or death. RESULTS: For 2V repair, 14/19 patients were selected and for 1V, 5/19 patients were selected. Initial surgical procedures of the 2V group were simple coarctation repair (5), complex coarctation/arch reconstruction +/- septal defect closure (6), hybrid stage 1 (2), and none (1). Three of the 2V patients required reintervention in the first 90 days. The LV to RV diastolic longitudinal ratio >0.75 and mitral/tricuspid ratio of <0.8 were observed in 13/14 of the 2V patients. The LV:RV ratio and the aortic valve z score were significantly larger in the 2V group compared to the 1V group. All patients in the 1V group had a nonapex forming LV. There was no mortality with follow-up to three years of age. CONCLUSIONS: This study showed excellent short-term and midterm surgical results in the 2V population. The LV:RV diastolic longitudinal ratio may be a useful tool in the risk stratification of a successful 2V repair even in cases with a small MV.

Incidental finding of type A aortic dissection in a paediatric heart transplant recipient.

Aortic dissection causes significant morbidity and mortality in adults and treatment guidelines are based on well-documented risk factors. Conversely, dissection after orthotopic heart transplantation is very rare, especially in the absence of infection, hypertension, or donor-recipient aortic size mismatch. Several forms of CHD are associated with aortic dilatation, but the incidence of aortic dissection and aneurysm in children is also low, which makes use of adult guidelines in children challenging. We present a 17-year-old Amish female with a homozygous gene mutation in the MYBPC3 gene known to cause lethal, infantile hypertrophic cardiomyopathy. She underwent orthotopic heart transplantation and then developed an asymptomatic aortic dissection despite no known risk factors.

Ruptured Sinus of Valsalva Aneurysm Mimicking Infective Endocarditis in DiGeorge Syndrome.

Sinus of Valsalva aneurysm (SOVA) is rare and can occur in diseases with progressive aortic dilation. We report an adolescent male with DiGeorge syndrome who presented with fever and wide pulse pressure mimicking endocarditis. A timely diagnosis of ruptured SOVA using echocardiography enabled optimal treatment. Our case highlights the need to assess for this rare condition in this high-risk population.

Cor triatriatum dexter with right ventricular hypoplasia: Role of multimodality imaging in decision making.

Cor Triatriatum Dexter (CTD) is a rare congenital anomaly involving the systemic venous valves. Failure of regression of the right-sided sinus venosus valve leads to abnormal septation of the right atrium and a variety of right atrial and tricuspid valve obstructive lesions. The presentation can be varied ranging from asymptomatic to persistent neonatal cyanosis. We describe a late diagnosis of CTD in a 10-month-old male with persistent hypoxia despite balloon valvuloplasty for mild pulmonic valve stenosis with a large secundum atrial septal defect and a mildly hypoplastic right ventricle.

Assessment of Progressive Pathophysiology After Early Prenatal Diagnosis of the Ebstein Anomaly or Tricuspid Valve Dysplasia.

In fetuses with Ebstein anomaly or tricuspid valve dysplasia (EA/TVD), poor hemodynamic status is associated with worse neonatal outcome. It is not known whether EA/TVD fetuses with more favorable physiology earlier in gestation progress to more severe disease in the third trimester. We evaluated if echocardiographic indexes in EA/TVD fetuses presenting <24 weeks of gestation are reliable indicators of physiologic status later in pregnancy. This multicenter, retrospective study included 51 fetuses presenting at <24 weeks of gestation with EA/TVD and serial fetal echocardiograms ≥4 weeks apart. We designated the following as markers of poor outcome: absence of anterograde flow across the pulmonary valve, pulmonary valve regurgitation, cardiothoracic area ratio >0.48, left ventricular (LV) dysfunction, or tricuspid valve (TV) annulus Z-score >5.6. Median gestational age at diagnosis was 21 weeks (range, 18 to 24). Eighteen fetuses (35%) had no markers for poor hemodynamic status initially, whereas only 7 of these continued to have no markers of poor outcome in the third trimester. Nine of 27 fetuses (33%) with anterograde pulmonary blood flow on the first echocardiogram developed pulmonary atresia; 7 of 39 (18%) developed new pulmonary valve regurgitation. LV dysfunction was present in 2 (4%) patients at <24 weeks but in 14 (37%) later (p <0.001). The TV annulus Z-score and cardiothoracic area both increased from diagnosis to follow-up. In conclusion, progressive hemodynamic compromise was common in this cohort. Our study highlights that care must be taken in counseling before 24 weeks, as the absence of factors associated with poor outcome early in pregnancy may be falsely reassuring.

Pentalogy of Cantrell: A View From Fetus to Operation With Multimodality Imaging.

Pentalogy of Cantrell and its surgical management have been previously described in the literature. To our knowledge, our case report is the first that is able to demonstrate the full use of multimodality imaging to describe it. Viewing this rare defect chronologically from fetal echocardiography, postnatal ultrasonography, and magnetic resonance imaging, as well as intraoperatively aided in the management of this patient.

Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current Era: A Multicenter Study.

BACKGROUND: Ebstein anomaly and tricuspid valve dysplasia are rare congenital tricuspid valve malformations associated with high perinatal mortality. The literature consists of small, single-center case series spanning several decades. We performed a multicenter study to assess the outcomes and factors associated with mortality after fetal diagnosis in the current era. METHODS AND RESULTS: Fetuses diagnosed with Ebstein anomaly and tricuspid valve dysplasia from 2005 to 2011 were included from 23 centers. The primary outcome was perinatal mortality, defined as fetal demise or death before neonatal discharge. Of 243 fetuses diagnosed at a mean gestational age of 27±6 weeks, there were 11 lost to follow-up (5%), 15 terminations (6%), and 41 demises (17%). In the live-born cohort of 176 live-born patients, 56 (32%) died before discharge, yielding an overall perinatal mortality of 45%. Independent predictors of mortality at the time of diagnosis were gestational age <32 weeks (odds ratio, 8.6; 95% confidence interval, 3.5-21.0; P<0.001), tricuspid valve annulus diameter z-score (odds ratio, 1.3; 95% confidence interval, 1.1-1.5; P<0.001), pulmonary regurgitation (odds ratio, 2.9; 95% confidence interval, 1.4-6.2; P<0.001), and a pericardial effusion (odds ratio, 2.5; 95% confidence interval, 1.1-6.0; P=0.04). Nonsurvivors were more likely to have pulmonary regurgitation at any gestational age (61% versus 34%; P<0.001), and lower gestational age and weight at birth (35 versus 37 weeks; 2.5 versus 3.0 kg; both P<0.001). CONCLUSION: In this large, contemporary series of fetuses with Ebstein anomaly and tricuspid valve dysplasia, perinatal mortality remained high. Fetuses with pulmonary regurgitation, indicating circular shunt physiology, are a high-risk cohort and may benefit from more innovative therapeutic approaches to improve survival.