[ ABSTRACT] AIM:To investigate the genetic cause of 2 Chinese families with Marfan syndrome .METHODS:The clinical and laboratory investigations were performed in the 2 unrelated Chinese families .Family 1 had 1 patient with cardiac problem.Family 2 had 2 patients:one died, and the other with respiratory and cardiac problems .Next generation sequencing and Sanger sequencing in the Marfan syndrome causal gene FBN1 were performed in the patient , his unaffected sister and the parents of family 1.Sanger sequencing covering all the exons and intron-exon boundaries were performed in the patient and the parents in family 2.Bioinformatic analysis was engaged in the variations unravelled .Fifty healthy indi-viduals were also investigated in the same manner .RESULTS:Both patients were diagnosed with Marfan syndrome .A no-vel mutation c.4685G>A (p.Cys1562Tyr) was detected in the patient of family 1 but was absent in his parents and the unaffected sister .This is a previously unreported novel mutation .In the mutation a conserved Cys was substituted by a Tyr in amino acid 1562 affecting a TGF-βbinding domain and the secondary structure in the encoded protein .We also detected the mutation c.3706T>C (p.Cys1236Arg) in the patient of family 2.It was absent in the unaffected parents , and there-fore was a de novo mutation too.This mutation has been previously reported and known to be associated with neonatal Marfan syndrome .Both mutations were absent in the 50 healthy controls .We also compared the genotype and phenotypes of the 2 families.CONCLUSION:We report 2 de novo mutations in 2 Chinese families with Marfan syndrome .One of the 2 mutations is novel.The phenotype of the mutation c.4685G>A(p.Cys1562Tyr) in family 1 is associated with classical Marfan syndrome, while that of c.3706T>C (p.Cys1236Arg) in family 2 is with neonatal type of Marfan syndrome .De novo mutations may be a cause for a proportion of mutations underlying the disease .The novel mutation also expends the mutational spectrum of the FBN1 gene.

Child ; Humans ; Vascular Calcification ; diagnosis

Objective:To summarize the prenatal diagnosis features, classification and pregnancy outcome of anomalous origin of one pulmonary artery branch from the aorta (AOPA).Methods:This study involved 14 cases who were prenatally diagnosed with AOPA in Guangzhou Women and Children's Medical Center between June 2016 and August 2022. Prenatal and postnatal echocardiographic features, postpartum diagnosis, surgical treatment and pregnancy outcome in these cases were summarized and analyzed by descriptive analysis.Results:Out of the 14 fetuses, there were seven fetuses with proximal-type AOPA (including three isolated AOPA, three Berry syndrome and one with interruption of the aortic arch, aorticopulmonary septal defect and ventricular septal defect) and another seven with isolated distal-type of AOPA. Among the seven cases of proximal-type AOPA, two were terminated and five were born alive. The postpartum diagnosis was consistent with the prenatal diagnosis in the five babies who later underwent surgical treatment with good outcomes. Among the seven cases of distal-type AOPA, one was terminated; two were initially diagnosed as AOPA in the neonatal period but then as unilateral absence of pulmonary artery (UAPA) due to tapering or closure of the ductus arteriosus during follow-up; the other four were confirmed with UAPA after delivery. All of the six neonates underwent surgical treatment with good outcomes.Conclusions:Prenatal diagnosis and classification of AOPA should be as accurate as possible. It is recommended that the distal-type of AOPA could be diagnosed as UAPA after delivery and treated according to UAPA. Both kinds of patients should be treated with surgery timely after delivery to ensure a good prognosis.

Objective: To summarize the clinical characteristics of pediatric hypertrophic cardiomyopathy and analyze its etiology for providing guidance for early identification, diagnosis and prognosis. Methods: Fifty-two cases of pediatric hypertrophic cardiomyopathy admitted to Guangzhou Women and Children′s Medical Center from January 2012 to June 2018 were retrospectively analyzed and summarized from the aspects of age, gender, family history, clinical features, auxiliary examination, etiology, drug efficacy and disease outcome. Results: (1) There were 52 cases in this group including 36 males and 16 females.The ages of patients ranged from 15 days to 14 years (with mean age of 27.7 months, median 6.5 months). A total of 34 patients (65.4%) were followed up for 1-78 months (mean 30.6 months). Echocardiography showed 52 cases of left ventricular wall thickening (100%), 21 cases of double ventricular hypertrophy (40.4%), 18 cases of left ventricular outflow tract obstruction (34.6%), and 18 cases of hepatic enzyme elevation (34.6%). The etiology of 11 cases was clear (21.2%), including 7 cases of type Ⅱ glycogen accumulation, 3 cases of Noonan syndrome and 1 case of primary carnation deficiency.No routine heart transplantation was performed at the end of follow-up, and 12 patients (35.3%) died, 7 cases of whom died in infancy. Conclusions Children with hypertrophic cardiomyopathy have a relatively young age, so it is necessary to search for the etiology actively, carry out disease risk assessment, and conduct personalized management and treatment.

Objective To explore the diagnostic value of transthoracic echocardiography (TTE) for anomalous origin of right pulmonary artery (AORPA).Methods Echocardiographic data of 26 patients with AORPA proved by surgical operation were analyzed retrospectively.Results TTE showed that the pulmonary trunk and the left pulmonary artery were displayed normally,and the right pulmonary artery originated from the ascending aorta.AORPA in all 26 patients were diagnosed,and the coincidence rate was 100％.Among 26 patients,9 associated with Berry's syndrome,1 combined with coarctation of aorta,22 combined with patent ductus arteriosus,23 combined with atrial septal defect or patent foramen ovale,25 were found with severe pulmonary artery hypertension,and the diagnostic accuracy rate of TTE was 100％ (26/26),100％ (26/26),96.15％ (25/26),92.31％ (24/26) and 100％ (26/26),respectively.Conclusion TTE can early and accurately diagnose AORPA,also has high accuracy in diagnosis of other concomitant malformations.Multi-section scan can reduce misdiagnosis.TTE can be taken as the preferred inspection method for diagnosing AORPA.

Objective To assess the application value of juxtaposition of the great vessels in diagnosis of right atrial isom-erism( RAI) by echocardiography.Methods We retrospectively analyzed 73 patients with right atrial isomerism in Guangzhou Women and Children's Medical Center from 2010-2017.All these patients were performed by echocardiography and compu-ted tomography(CT).We used the results of CT as the golden standard.Results 73 cases of RAI were diagnosed by CT.60 cases of RAI were diagnosed by echocardiography.Juxtaposition of the descending aorta(DAO) and inferior vena(IVC) was demonstrated in all these 60 patients.29 of 60 were on the left side of the spine(39.73％).31 of 60 were on the right side of spine(42.47％).In the other 13 patients of echocardiography missed diagnosis, the arrangement of the great vessels was nor-mal in 10 cases, and inverse in 3 cases.Conclusion Juxtaposition of the great vessels is one of the most important findings in patients with RAI.It is quick and simple and has a higher application value in diagnosis of RAI.