The Spectrum of Cardiac Anomalies Associated with Heterotaxy: A Single-Center Study of a Large Series Based on Computed Tomography.

The aim of the study was to identify and correlate the anatomical variants of cardiac structures among patients with heterotaxy. In this retrospective cross-sectional analysis of 13 years duration, 302 patients of congenital heart diseases associated with heterotaxy were studied. All these patients had undergone a meticulous clinical evaluation, echocardiography, and cardiac computed tomography. The mean age of the cohort was 38.4 months, with 180 males and 122 females. The cohort had 184 patients of right isomerism and 118 of left isomerism. More than half of the cohort had abnormal pulmonary veins. Over 75% of the cohort had low pulmonary blood flow. Abnormal relationship of great arteries was seen in nearly 69% of the cohort. Atrio-venticular canal defect was the commonest anatomical variant. Overall, 43% of the cohort had single ventricle physiology, predominantly associated with right isomerism. Heterotaxy forms a difficult anatomical subset to comprehend due to the plethora of possible abnormalities. However, unless the cardiac and visceral anatomy is delineated well, the surgical plan becomes suboptimal and often elusive, leaving tough choices for cardiac surgeon. It is essential to obtain all the possible anatomical information using additional imaging modalities to devise a basis for a comprehensive plan for medical and surgical management. A better understanding of the genetic and molecular factors in the etiology, coupled with the application of state-of-the-art imaging techniques, is likely to add to our knowledge of heterotaxy to bring about improved surgical outcomes and a better quality of life for patients suffering from this complex entity.

Surgical outcomes of common arterial trunk repair beyond infancy.

Background: The aim of this study is to analyze the clinical outcomes of common arterial trunk repair beyond infancy in terms of both early- and long-term outcomes. Methods: Between January 2003 and December 2019, 56 patients underwent repair for common arterial trunk beyond infancy at our institute. Median age was 34.5 months, 51.8% were females, and 48.2% were males. Results: 48.2% were type 1, 46.4% were type 2, and 5.4% were type 3. 17.9% patients underwent direct connection technique for right ventricular outflow tract reconstruction; remaining received a conduit. The most common type of truncal valve anatomy was tricuspid (82.1%). Early mortality was 7%. Univariable analysis identified age (p = 0.003), weight (p = 0.04), duration of ventilation (p = 0.036), and pulmonary hypertensive crisis (p ≤ 0.001) as factors affecting early mortality. In our overall cohort of beyond infancy repair for common arterial trunk, at 10 years, the survival, freedom from reintervention for right ventricular outflow tract reconstruction, freedom from ≥ moderate conduit obstruction, freedom from impaired right ventricle function, and freedom from ≥ moderate truncal valve regurgitation were 76.7%, 89.7%, 74%, 88.6%, and 66.3%, respectively. Conclusion: Repair for common arterial trunk in patients presenting beyond 1 year of age is challenging; however, it can be done with satisfactory early and late outcomes in terms of mortality and reintervention.

Surgical Management of Aortopulmonary Window and its Associated Cardiac Lesions.

Background: The aim of this study was to review our institutional experience with patients who underwent surgical repair of aortopulmonary window, either as an isolated lesion or in association with other cardiac anomalies. Methods: Between January 2006 and December 2020, 183 patients underwent surgical repair of aortopulmonary window at our institute. Sixty-three patients had associated lesions (Group 1); 120 patients had isolated aortopulmonary window (Group 2). Median age was 7 months. Results: The early mortality in Group 1 was significantly higher (12.7%) compared to Group 2 (0.8%) (P = .001). The most common associated anomaly was ventricular septal defect (29 patients). On univariable analysis, cardiopulmonary bypass time (P < .001), aortic cross-clamp time (P < .001), delayed chest closure (P = .02), sepsis (P = .006), tracheostomy (P = .002), extracorporeal membrane oxygenation (P < .001), associated lesions (P = .001), pulmonary artery hypertensive crisis (P < .001) were predictors for early mortality. On multivariable analysis only pulmonary artery hypertensive crisis was identified as predictor for early mortality (P = .03; odds ratio = 24). Survival at both 5 years and 8 years was 77% ± 6.5 in Group 1 and 98.8% ± 1.2 in Group 2 (P≤.001). Freedom from reintervention at both 5 years and 8 years was 92.4% ± 5.2 in Group 1 and 100% in Group 2 (P = .055). Conclusion: Early outcomes of aortopulmonary window repair are excellent among patients in which this is an isolated lesion, as compared to those with associated lesions. Long-term outcomes in terms of freedom from reoperation are excellent in both the groups.

Spectrum of paediatric cardiac diseases: a study of 15,066 children undergoing cardiac intervention at a tertiary care centre in India with special emphasis on gender.

OBJECTIVES: To analyse the relative frequency and gender ratios in the procedures (both surgical and catheter-based interventions) performed for cardiac diseases in Indian children. BACKGROUND: Not many studies are available in the developing countries with regard to the prevalence, relative frequency, or gender distribution of cardiac diseases in children. As universal newborn screening is not carried out for congenital cardiac diseases, the statistics are difficult to ascertain. Do female and male children with cardiac disease get equal parental preference in terms of surgical correction and catheter interventions in India? This question is also unanswered. METHODS: Analysis of 15,066 consecutive Indian children aged <18 years who were operated upon or had catheter intervention at a single tertiary care centre. Relative frequency and male/female ratios of cardiac lesions in these children were determined and compared with the studies in literature. RESULTS: Overall male/female ratio in the study was 1.4:1. Ventricular septal defect was the most common lesion (24.2%) with male/female ratio of 1.5:1, followed by tetralogy of Fallot (18.7%, 1.6:1), atrial septal defect (14.4%, 0.9:1) and so on. Male children dominated the total number of procedures performed. CONCLUSION: In most of the individual cardiac lesions, the relative frequency was different from that of international studies. The gender ratio for the majority of the individual type of cardiac problems was different from that of international references. These findings may suggest a preference for the male child in the treatment of cardiac diseases in India, which could possibly be related to social causes.

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.

Marfan syndrome and related disorders are a group of heritable connective tissue disorders and share many clinical features that involve cardiovascular, skeletal, craniofacial, ocular, and cutaneous abnormalities. The majority of affected individuals have aortopathies associated with early mortality and morbidity. Implementation of targeted gene panel next-generation sequencing in these individuals is a powerful tool to obtain a genetic diagnosis. Here, we report on clinical and genetic spectrum of 53 families from India with a total of 83 patients who had a clinical diagnosis suggestive of Marfan syndrome or related disorders. We obtained a molecular diagnosis in 45/53 (85%) index patients, in which 36/53 (68%) had rare variants in FBN1 (Marfan syndrome; 63 patients in total), seven (13.3%) in TGFBR1/TGFBR2 (Loeys-Dietz syndrome; nine patients in total) and two patients (3.7%) in SKI (Shprintzen-Goldberg syndrome). 21 of 41 rare variants (51.2%) were novel. We did not detect a disease-associated variant in 8 (15%) index patients, and none of them met the Ghent Marfan diagnostic criteria. We found the homozygous FBN1 variant p.(Arg954His) in a boy with typical features of Marfan syndrome. Our study is the first reporting on the spectrum of variants in FBN1, TGFBR1, TGFBR2, and SKI in Indian individuals.

Prediction of left ventricular dysfunction after device closure of patent ductus arteriosus: proposal for a new functional classification.

AIMS: The aims of this study were to determine the incidence and correlates of left ventricular (LV) dysfunction amongst percutaneous patent ductus arteriosus (PDA) device closure patients, and to propose an indexed parameter for predicting LV dysfunction. METHODS AND RESULTS: In a retrospective cross-sectional analysis of 30 months duration, 447 patients who underwent PDA device closure were studied. The diameter of the PDA at the pulmonary artery end was measured in the angiograms in all patients and was indexed for their body surface area. The indexed PDA size was categorised into group A (1-2.9 mm/m², 35/447), B (3-5.9 mm/m², 254/447), C (6-8.9 mm/m², 66/447) and D (>9 mm/m², 35/447). Systolic LV function was evaluated using echocardiography at frequent intervals. Overall, 62.63% of the patients were female (280/447). At baseline, all 447 patients had normal LV function. LV dysfunction was seen in 102/447 (22.8%) patients with 2.8% in category A (1/35), 10.6% in category B (27/254), 34.1% in category C (42/123) and 91.4% in category D (32/35) after PDA device closure. Correlation of indexed PDA size and LV dysfunction was statistically significant (p<0.05). CONCLUSIONS: Accurate prediction of LV dysfunction is important in risk stratification, ICU management and counselling in PDA device closures. Indexed PDA size correlates well with post-procedural LV dysfunction. The authors propose a new classification of PDA utilising this accurate, reproducible and easy to perform parameter, which does not involve any extra cost, for risk stratification and early management in device closure of PDA.

PHACE/S syndrome: a syndromic infantile segmental hemangioma.

PHACES syndrome is a neurocutaneous disorder characterized by posterior fossa brain malformations, hemangiomas, cardiac anomalies and coarctation of aorta, eye anomalies ± sternal clefts. All reported cases are sporadic and notably common in females. The underlying cause is unknown. Here is described, one of the twin baby with characteristic features of PHACE syndrome. The presence of large segmental hemangioma, especially on face should prompt the primary care provider to act early, to prevent complications related to facial hemangiomas and other associated anomalies.

Lessons learned from a series of patients with missed aortopulmonary windows.

OBJECTIVES: To identify factors contributing to missed diagnosis of aortopulmonary windows on initial echocardiographic examination; and to analyze lesions associated with these malformations. DESIGN: Retrospective study where echocardiographic findings and per-operative findings of patients were correlated by reviewing records. SETTING: Tertiary-care paediatric cardiac centre. PATIENTS: From May 2002 to September 2007, we diagnosed 50 patients with aortopulmonary windows. The group included 31 boys and 19 girls. Mean age at intervention was 1.7 years, with a range from 3 months to 17 years. RESULTS: The diagnosis of aortopulmonary window was made correctly by echocardiography during initial evaluation in 46 of 50 patients (92%). The remaining 4 patients were diagnosed either during repeat echocardiographic evaluation, cardiac catheterization, or per-operatively. We describe the details of these patients. Of the 50 patients, 23 had associated malformations, including ventricular septal defects in 10 patients, patent arterial ducts in 9, atrial septal defects or patent oval foramens in 5, 3 of whom also had patent arterial ducts, interruption of the aortic arch at the isthmus in 4, or between the left subclavian and common carotid arteries in 2, tetralogy of Fallot in 2, double-outlet right ventricle in 2, discordant ventriculo-arterial connections in 2, 1 of whom also had anomalous origin of the left coronary artery from the pulmonary trunk, and superior-inferior ventricles in 1 patient. CONCLUSIONS: Even meticulous echocardiography may result in a false negative diagnosis of an aortopulmonary window. A high index of suspicion for this lesion is warranted in cases of unexplained severe pulmonary arterial hypertension, and/or unexplained cardiac dilation.