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.

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.

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.