Background: Living well is as important as living longer. The objective of this study is to assess quality of life (QoL) in congenital heart disease (CHD) according to current AHA/ACC anatomical and physiological classifi- ... | Find, read and cite all the research you need on Tech Science Press

Left main coronary compression syndrome (LMCS) may complicate pulmonary artery aneurysms (PAA), usually developed in the context of pulmonary arterial hypertension (PAH). We report the case of a 51-year-old female patient with an atrial septal defect (unsuitable for device closure) complicated by a PAA generating a 90% left main stenosis. The significant PAH held us back from immediate surgery. After specific dual PAH-targeted therapy (sildenafil and bosentan), the atrial septal defect could be closed with a unidirectional valved patch; the PAA-induced LMCS was treated by reductive arterioplasty. The postoperative course was uneventful. Follow-up showed clinical improvement, but PAH treatment was still needed. After three months, coronary angiography showed only an insignificant residual left main stenosis, proving that reductive pulmonary arterioplasty was effective in treating LMCS. Any PAA requires further evaluation for LMCS, a dangerous but treatable complication. The “treat-repair-treat” strategy and shunt-closure with a unidirectional valved patch can both improve surgical prospects of LMCS with shunt-related PAH.

Background: Ventricular crypts are quite a common finding during cardiac imaging, but their etiology is unclear. A possible final result of a spontaneous ventricular septal defect closure has been supposed but never investigated in earlier studies. Method: From January 1997 to December 2020, all newborns diagnosed to have a ventricular septal defect were prospectively entered in our database and those with an isolated defect were included in the study. Ventricular septal defects were classified into four types: perimembranous, trabecular muscular, inlet and outlet. A long-term follow up was performed in order to visualize the possible residual formation of a septal myocardial crypt. Results: A total of 376 isolated ventricular septal defects (314 muscular and 54 perimembranous, 4 inlet, 4 outlet) were detected. Follow up ranged from 1 to 23 years and showed that, among muscular type, a spontaneous closure occurred in 284 (91%), 26 did not close (8,28%), 2 required surgical intervention (0,63%), 3 were lost at follow up (0,95%). During this period, after spontaneous defect closure closure, 20 crypts were found (6,4%). Conclusion: This study shows that a muscular ventricular septal defect may evolve in the 6.4% of cases in a residual septal crypt. Although septal crypts occur more frequently in patients affected by hypertrophic and hypertensive cardiomyopathy, they may also represent the evolution of a spontaneous closure of a muscular interventricular defect.

Background: Pulmonary atresia (PA) is a group of heterogeneous complex congenital heart disease. Only one study modality might not get a correct diagnosis. This study aims to investigate the diagnostic power of dual-source computed tomography (DSCT) for all intracardiac and extracardiac deformities in patients with PA compared with transthoracic echocardiography (TTE). Materials and Methods: This retrospective study enrolled 79 patients and divided them into three groups according to their main diagnosis. All associated malformations and clinical information, including treatments, were recorded and compared among the three groups. The diagnostic power of DSCT and TTE on all associated malformations were compared. The surgical index (McGoon ratio, pulmonary arterials index (PAI), and total neopulmonary arterial index) and radiation dose were calculated on the basis of DSCT. Results: Of the patients, 32, 30, and 17 were divided into the groups of PA with ventricular septal defect (VSD), PA with VSD and major aortopulmonary collateral arteries, and PA with other major malformations, respectively. Consequently, 182, 162, and 13 intracardiac, extracardiac, and other major malformations were diagnosed, respectively. Moreover, DSCT showed a better diagnostic performance in extracardiac deformities (154 vs. 117, p < 0.001), whereas TTE could diagnose intracardiac deformities better (159 vs. 139, p = 0.001). The McGoon ratio, PAI, and treatment methods were significantly different among the three groups (p = 0.014, p = 0.008, and p = 0.018, respectively). Conclusion: More than one imaging modality should be used to make a correct diagnosis when clinically suspecting PA. DSCT is superior to TTE in diagnosing extracardiac deformities and could be used to roughly calculate surgical indices to optimize treatment strategy.

Background: Atrial septal defect (ASD) is one of the common congenital heart diseases. The MYH6 gene has a critical role in cardiac development but the role of MYH6 promoter variants in patients with ASD has not been explored. Methods: In 613 subjects including 320 ASD patients, we investigated the MYH6 gene promoter variants and verified the effect on gene expression by using cellular functional experiments and bioinformatics analysis. Results: Eleven variants were identified in the MYH6 gene promoter, of which four variants were found only in ASD patients, and two variants (g.3434G>C and g.4524C>T) were identified for the first time. Cellular functional experiments indicated that all four variants reduced the transcriptional activity of the MYH6 gene promoter (p < 0.05). Subsequent analysis through the JASPAR (A database of transcription factor binding profiles) suggests that these variants may alter transcription factor binding sites, which may in turn lead to changes in myocardin subunit expression and ASD formation. Conclusions: Our study for the first time focuses on variants in the promoter region of the MYH6 gene in Chinese patients with ASD and the discovered variants have functional significance. The study provides new insights in the role of the MYH6 gene promoter region to better understand the genetic basis of ASD formation and facilitates clinical diagnosis.

Aims: Evidence is emerging that, in the setting of isomerism, the atrial and bronchial arrangement are not always concordant, nor are these patterns always harmonious with the arrangement of the abdominal organs. We aimed to evaluate the concordance between these features in a cohort of patients with cardiac malformations in the setting of known isomerism, seeking to determine whether it was feasible to assess complexity on this basis, in this regard taking note of the potential value of bronchial as opposed to appendage morphology. Methods and Results: We studied 78 patients known to have isomerism of the bronchuses, 43 with right and 35 with left isomerism. Appendage anatomy could be determined in 49 cases (63%), all but one of these being concordant with bronchial anatomy. When assessing abdominal features, in only 59 cases (76%) was splenic morphology in keeping with the thoracic findings. As expected, right isomerism was associated with greater complexity of cardiac malformations, with an odds ratio of 6.53, with confidence intervals from 2.2–19.3 (p < 0.001). The odds were slightly decreased with thoraco-abdominal disharmony, when lesions shown to carry higher risk were then found in the setting of left isomerism. Conclusion: Harmony is excellent between bronchial and appendage isomerism, but less so with the arrangement of the abdominal organs. Right isomerism in our cohort, was indicative of a six-fold increase in intracardiac complexity. When discordance was found between the systems, however, the cardiac anomalies were less typical of the anticipated findings for right vs. left isomerism of the appendages.

We report a three-year-old male child who presented with congenital valvular defects, right ventricular malformation, and initial developmental delay. Genome sequencing showed rare deleterious biallelic missense variants in <i>PLD1</i>. In his parents’ second pregnancy, echocardiogram at 13 weeks gestation revealed right-sided cardiac malformations resembling the clinical presentation of the family’s first child. Targeted DNA analysis showed that the fetus carried the same biallelic <i>PLD1</i> variants as their older sibling. This case helps to further delineate the clinical spectrum of <i>PLD1</i>-related defects and highlights the value of both genome sequencing in congenital heart disease and early fetal echocardiography to establish phenotype.