ABSTRACT
OBJECTIVE@#To explore the clinical and genetic characteristics of a patient with hypertrophic cardiomyopathy as the initial manifestation of Mucopolysaccharidosis type Ⅲ A (MPS Ⅲ A).@*METHODS@#A female patient with MPS Ⅲ A who was admitted to the Affiliated Hospital of Jining Medical University in January 2022 and her family members (seven individuals from three generations) were selected as the study subjects. Clinical data of the proband were collected. Peripheral blood samples of the proband was collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing. Heparan-N-sulfatase activity was determined for the disease associated with the variant site.@*RESULTS@#The proband was a 49-year-old woman, for whom cardiac MRI has revealed significant thickening (up to 20 mm) of left ventricular wall and delayed gadolinium enhancement at the apical myocardium. Genetic testing revealed that she has harbored compound heterozygous variants in exon 17 of the SGSH gene, namely c.545G>A (p.Arg182His) and c.703G>A (p.Asp235Asn). Based on guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be pathogenic (PM2_Supporting +PM3+PP1Strong+PP3+PP4; PS3+PM1+PM2_Supporting +PM3+PP3+PP4). Sanger sequencing confirmed that her mother was heterozygous for the c.545G>A (p.Arg182His) variant, whilst her father, sisters and her son were heterozygous for the c.703G>A (p.Asp235Asn) variant. Determination of blood leukocyte heparan-N-sulfatase activity suggested that the patient had a low level of 1.6 nmol/(g·h), whilst that of her father, elder and younger sisters and son were all in the normal range.@*CONCLUSION@#The compound heterozygous variants of the SGSH gene probably underlay the MPS ⅢA in this patient, for which hypertrophic cardiomyopathy is an associated phenotype.
Subject(s)
Female , Humans , Male , Middle Aged , Cardiomyopathy, Hypertrophic , Contrast Media , East Asian People , Gadolinium , Mucopolysaccharidosis III , Mutation , PedigreeABSTRACT
Objective@#To explore the effects of exercise rehabilitation on the depression and anxiety state and quality of life in patients with chronic heart failure.@*Methods@#400 cases of chronic heart failure patients were selected as the research objects.They were randomly divided into control group(n=200)and exercise rehabilitation group(n=200) by random number table.Two groups were given symptomatic treatment and routine care on a regular basis, and exercise rehabilitation group again on this foundation to give rehabilitation therapy for 3 weeks.Self-rating anxiety scale(SAS) and Self-rating depression scale(SDS)were used to score the anxiety and depression of the two groups before and after rehabilitation.The SF-36 was used to assess the quality of life of patients.Rehabilitation satisfaction questionnaire was used to investigate the satisfaction degree of rehabilitation.@*Results@#There was no significant difference in SAS and SDS scores between the two groups before intervention (P>0.05). After intervention, the SAS and SDS scores of the two groups were significantly lower than those before intervention (P<0.05). SAS and SDS scores in exercise rehabilitation group ((27.47±4.82)vs(45.63±5.61))were significantly lower than those in control group ((43.17±4.81) vs (59.61±4.18))(P<0.05). Before intervention, there was no significant difference in the scores of SF-36 scale between the two groups (P>0.05). After intervention, the scores of SF-36 scale were significantly increased in the two groups, and the difference was statistically significant compared with that before intervention (P<0.05). All the factors of SF-36 in exercise rehabilitation group were significantly higher than those in control group (mental health: (72.06±7.48)vs(64.34±7.01), emotional function: (81.06±7.01)vs(76.05±6.92), social function: (81.14±7.83)vs(71.26±7.65), overall health: (70.14±8.05)vs(61.26±7.95), energy: (74.56±7.81)vs(69.46±7.40), the body pain: (68.51±7.36)vs(60.26±7.51), physical limitations: (64.99±7.31)vs(59.62±7.53 ), physiological function: (69.71±7.63)vs(63.84±7.04), all P<0.05). The satisfaction of the exercise rehabilitation group (92.5%)was significantly higher than that of the control group(75.0%) (P<0.05).@*Conclusion@#Exercise rehabilitation training can not only improve the anxiety and depression of patients with chronic heart failure, but also effectively improve the quality of life of patients.Exercise rehabilitation training has a high degree of recognition, and is worthy of extensive application in clinical practice.