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Background. Antiretroviral (ARV) regimens during pregnancy are highly effective in preventing mother-to-child transmission of human immunodeficiency virus (HIV). Congenital heart defects (CHDs) and anomalies in cardiac function have been reported in zidovudine (ZDV)–exposed uninfected children. We explored these associations in a large observational cohort and a randomized clinical trial. Methods. Since 1986, the French Perinatal Cohort prospectively enrolled all HIV-infected women in 90 centers and collected follow-up on their children through 2 years of age. All CHDs were reviewed by a specialist blinded to exposures. Additionally, in a randomized trial (PRIMEVA ANRS 135) of 2 ARV regimens during pregnancy, 1 of which was without nucleoside reverse transcriptase inhibitors, infants had a specific follow-up including echocardiography at 1 month and 12 months. Results. Among 12 888 children included, ZDV exposure in the first trimester was significantly associated with CHD (1.5% vs 0.7%; adjusted odds ratio, 2.2 [95% confidence interval, 1.3–3.7]; P < .001). This association was significant for ventricular septal defects (1.1% vs 0.6%; P = .001) and other CHDs (0.31% vs 0.11%; P = .02). In the randomized trial, among 50 infants, girls (but not boys) exposed in utero to ZDV/lamivudine/ritonavir-boosted lopinavir (LPV/r) had a higher left ventricular shortening fraction at 1 month (40% vs 36%; P = .008), and an increased posterior wall thickness at 1 year (5.4 mm vs 4.4 mm; P = .01) than the LPV/r group. Conclusions. This study confirms a specific association between in utero exposure to ZDV and CHDs, and a longlasting postnatal myocardial remodeling in girls. A potential common mechanism, including the involvement of mitochondrial dysfunction, must be explored, and long-term consequences on cardiac function warrant specific attention. Clinical Trials Registration. NCT00424814.

Ventricular septal defects account for up to 40% of all congenital cardiac malformations. The diagnosis encompasses a broad range of anomalies, including isolated defects and those associated with other congenital cardiac malformations. Presentation, symptoms, natural history, and management of ventricular septal defects depend on size and anatomical associations of the anomaly, patient's age, and local diagnostic and interventional expertise. In this Seminar, we describe the anatomical range of ventricular septal defects and discuss present management of these malformations. Genetic determinants, diagnostic techniques, physiological considerations, and management challenges are examined in detail. Unfortunately, in many circumstances, evidence on which to guide optimum management is scarce. We present some longer term considerations of ventricular septal defects in adolescents and adults, with particular emphasis on patients with raised pulmonary vascular resistance and Eisenmenger's syndrome.

The ideal follow-up of neonates who have a secundum atrial septal defect (ASD), muscular ventricular septal defect (VSD), or patent ductus arteriosus (PDA) remains uncertain. Newborns with findings limited to a secundum ASD, muscular VSD, and/or PDA on their neonatal hospitalization discharge echocardiogram and at least one outpatient follow-up echocardiogram performed between 9-1-17 and 9-1-21 were evaluated and patient follow-up assessed through 9-1-23. 95 infants met inclusion criteria. 43 infants had a secundum ASD, 41 had a muscular VSD, and 54 had a PDA at newborn hospital discharge. 39/95 had more than one intracardiac shunt. 56 were discharged from care, 26 were still in follow-up and 13 were lost to recommended follow-up. No patients received intervention during the follow-up period of 2 to 6 years. Of the 43 infants with a secundum ASD, 16 (37.2%) had demonstrated closure of the ASD, and 13 (30.2%) were discharged from care with an ASD < 3.5 mm in diameter. 3/43 infants with secundum ASD had a defect with a diameter of more than 5 mm at their last echocardiogram. No infant discharged from their neonatal hospitalization with a secundum ASD, muscular VSD, or PDA needed any intervention from 2 to 6 years of follow-up. Ongoing follow-up with echocardiography of those infants with a secundum ASD is of greater value than of those with muscular VSD or PDA.

Floating-Harbor syndrome (FHS) is a rare autosomal dominant genetic disorder characterized by proportionately short stature, lack of expressive language, and distinctive facial features, including a large nose, long eyelashes, deeply set eyes, and a triangular face. We present a case of an 11-year-old Korean girl who was initially suspected of having Noonan-like syndrome but was later diagnosed with FHS. The patient exhibited short stature, developmental language delay, dysmorphic facial features, and early puberty. Targeted exome sequencing revealed a heterozygous mutation, c.7303C>T (p.Arg2435Ter), in the gene, confirming a diagnosis of FHS. She responded well to human recombinant growth hormone and gonadotropin-releasing hormone agonist, effectively suppressing bone maturation and improving her height standard deviation score from -4.6 to -2.4.

Background Ventricular septal defect is the most prevalent form of congenital heart disease, occurring as isolated lesion in approximately 20% of cases and as part of more complex malformations in up to 40%. Multiple ventricular septal defects are usually associated with “Swiss Cheese” variant characterized by multiple perforations throughout the muscular septum, often involving the apical, mid-muscular, and anterior regions, which creates a complex network of left-to-right shunts that are technically difficult to identify and close individually. Presence of severe tricuspid regurgitation contributes to risks related to poor prognosis. An infant with congestive heart failure, severe tricuspid regurgitation, large left-to-right shunting and elevated right ventricular pressure requires a critical decision-making process for surgical management due to higher risks and poor outcome. Case presentation We are presenting herewith a six-month-old infant with Holt-Oram syndrome, who presented with classic signs of congestive heart failure, tachypnoea, poor weight gain and hepatomegaly, all indicative of systemic and pulmonary venous congestion. Chest x-ray and echocardiography confirmed the diagnosis. Despite aggressive medical management the patient’s condition continued to deteriorate and required surgical intervention. The traditional management paradigm for such infants involves a choice between palliative pulmonary artery banding or surgical closure. In this case, both options presented significant risks and were deemed suboptimal. Therefore, to avoid risks, we opted a minimal invasive perventricular device closure of the defects with success. Conclusions Children with severe tricuspid regurgitation, right ventricular failure, Swiss cheese morphology, multiple ventricular septal defects, genetic disorders and low weight may be considered for minimal invasive approaches including perventricular device closure of the ventricular septal defects whenever feasible to avoid operative risks and offer better outcomes.

To evaluate perinatal outcomes and congenital heart defect (CHD) prognosis in a non-selected population. The population-based surveillance data used in this assessment of CHDs were based on birth defect surveillance data collected from 2010-2012 in Liuyang City, China. Infants living with CHDs were followed up for 5 years to determine their prognosis. Prevalence, prenatal diagnosis, perinatal outcomes, and total and type-specific prognosis data were assessed using SPSS 18.0. In total, 190 CHD cases were identified among the 53313 included perinatal infants (PIs), indicating a CHD prevalence of 35.64 per 10000 PIs in this non-selected population. The five most frequently identified types of CHDs were ventricular septal defects (VSDs, 38.95%), atrial septal defects (ASDs, 15.79%), cardiomegaly (7.89%), tetralogy of Fallot (TOF, 5.79%), and atrioventricular septal defects (AVSDs, 5.26%). Of the 190 CHD cases, 110 (57.89%) were diagnosed prenatally, 30 (15.79%) were diagnosed with associated malformations, and 69 (36.32%) resulted in termination of pregnancy (TOP). Moreover, 15 (7.89%) PIs died within 7 days after delivery, and 42 (22.10%) died within 1 year. In contrast, 79 (41.58%) were still alive after 5 years. When TOP cases were included, the 5-year survival rate of PIs with prenatally detected CHDs was lower than that of PIs with postnatally detected CHDs (25.45% vs. 63.75%). The CHD subtype associated with the highest rate of infant (less than 1 year old) mortality was transposition of the great arteries (100%). The subtypes associated with higher 5-year survival rates were patent ductus arteriosus (80%), ASD (63.33%), VSD (52.70%) and AVSD (50%). The rates of prenatal CHD detection and TOP were high in this study population, and the 5-year survival rate of PIs with CHDs was low. The government should strengthen efforts to educate pediatricians regarding this issue and provide financial assistance to improve the prognosis of infants living with CHDs, especially during the first year of life.

Transcatheter device closure of a large perimembranous ventricular septal defect with left-to-right shunt was attempted with an antegrade transvenous approach and a conventional arteriovenous loop facilitated, both of which were unsuccessful. We succeeded with an indigenous technique of advancing the delivery sheath towards the left ventricular apex from the venous side with the help of a cut pigtail, keeping the arteriovenous loop.

Abstract Sternal cleft is a rare congenital malformation of anterior chest wall resulting from the failure of mesodermal migration to the midline during early embryological development. It may occur as an isolated anomaly or in connection with other congenital defects, most commonly of the cardiovascular system. The authors report the case of a 6-month-old girl with an upper sternal cleft combined with ventricular and atrial septal defects, who underwent single-stage surgical correction. The cosmetic and functional outcomes of the reconstruction were very good, with a stable anterior chest wall. The child is thriving, without cardiac limitations. Sternal clefts (SC) are rare birth defects occurring in approximately 1 in 100 000 newborns and accounting for less than 0.15% of all anterior chest wall deformities.

Ventricular septal defect (VSD) is a common congenital heart disease. However, consensus on the utility of echocardiography in predicting spontaneous closure (SC) of VSD remains lacking. This study aimed to identify and validate significant predictors of SC through a predictive scoring system. This retrospective study included medical records of 712 echocardiography instances performed on 304 patients diagnosed with VSD from 2016 to 2020 in their first year of life. A novel scoring system for predicting the SC of VSD was developed and validated using another dataset from different hospitals. Of the 304 patients, 215 (70.7%) had perimembranous (PM) VSDs and 89 had muscular (29.3%) VSDs. The median follow-up periods were 36.2 (interquartile range [IQR], 13–59) months and 13.7 9 (IQR, 5–37.4) days for PM and muscular VSDs, respectively. The overall SC rate during follow-up was 29.3%. Pulmonary hypertension (HTN), concomitant left ventricle (LV)–right atrium (RA) shunt, VSD size to aortic valve (AV) annulus size ratio, and left ventricular end-diastolic dimension (LVEDD) z -score were significant risk factors affecting SC of VSD. The “P-VSD” score, a new scoring system, demonstrated an area under the curve for predictability of 0.769. Pulmonary HTN, concomitant LV–RA shunt, LVEDD z -score, and VSD size-to-AV annulus size ratio at diagnosis were significantly associated with non-SC VSD after infancy. The P-VSD score can predict the SC of VSD in clinical settings and simplify the identification and appropriate management of high-risk patients.

Introduction In the era of modern techniques for the early diagnosis and revascularization of myocardial infarction, post-myocardial infarction ventricular septal defect is rarely seen. However, this potentially fatal complication of ischemic cardiac events cannot always be detected and diagnosed in a straightforward pattern of practice. This study presents an initially delayed-presented post-infarction ventricular septal defect. Case presentation The patient was a 58-year-old white man who presented to the cardiology clinic complaining of moderate exertional dyspnea initiated two months ago and exacerbated by the time. His medical history includes an admission three years prior, where he was diagnosed with COVID-19 pneumonia and a myocardial infarction that was complicated by a ventricular septal defect (VSD) and hemodynamic instability. This condition was managed through urgent surgical revascularization and closure of the defect. Due to his current symptoms, further cardiac investigations were planned. A transthoracic echocardiogram was recommended after detecting a grade 3/6 systolic murmur during the physical examination. The initial assessment using an apical four-chamber TTE appeared normal. However, when performing a modified view with a posterior tilt, a bulging septum was observed, leaning toward the right ventricle. This bulging contained a defect with a left-to-right shunt, identified as a residual defect in the area of the repaired patch, along with a myocardial aneurysm. Due to the inconsequential findings from the echocardiogram study, the patient was scheduled for a follow-up echocardiogram, which showed no changes after six months. Additionally, the patient underwent therapeutic management addressing chronic obstructive pulmonary disease. Conclusion Although post-infarction ventricular septal defects are rarely seen in the revascularization era, the COVID-19 era was associated with an increase in the prevalence of this complication. It is important to be vigilant for patients who experienced an index event during that time. This potentially fatal complication can present with new issues following the initial event, such as residual defects. Comprehensive imaging studies are necessary to detect the underlying pathology. Key clinical message Diagnosing post-infarction ventricular septal defect requires the hypervigilance and precision of the cardiologist, who examines the patient and performs the cardiac imaging. Therefore, comprehensive investigations are crucial in patients with a suspicious history of ischemic cardiac events.