ACTA2 mutation is responsible for multisystemic smooth muscle dysfunction syndrome with seizures:A case report and review of literature

BACKGROUND ACTA2 gene is a specific gene that encodes actinα2.Multisystem smooth muscle dysfunction syndrome(MSMDS)is a multisystem disease characterized by aortic and cerebrovascular lesions caused by ACTA2 gene mutations.There have been many reports of cardiac,pulmonary and cerebrovascular lesions caused by MSMDS;however,few studies have focused on seizures caused by MSMDS.CASE SUMMARY Our patient was a girl aged 7 years and 8 mo with recurrent cough,asthma and seizures for 7 years.She was diagnosed with severe pneumonia,congenital heart disease,cardiac insufficiency,and malnutrition in the local hospital.Cardiac ultrasonography revealed congenital heart disease,patent ductus arteriosus(with a diameter of 0.68 cm),left coronary arteriectasis,patent oval foramen(0.12 cm),tricuspid and pulmonary regurgitation,and pulmonary hypertension.Cerebral magnetic resonance imaging and magnetic resonance angiography indicated stiffness in the brain vessels,together with multiple aberrant signaling shadows in bilateral paraventricular regions.A heterozygous mutation(c.536G>A)was identified in the ACTA2 gene,resulting in generation of p.R179H.Finally,the girl was diagnosed with MSMDS combined with epilepsy.The patient had 4 episodes of seizures before treatment,and no onset of seizure was reported after oral administration of sodium valproate for 1 year.CONCLUSION MSMDS has a variety of clinical manifestations and unique cranial imaging features.Cerebrovascular injury and white matter injury may lead to seizures.Gene detection can confirm the diagnosis and prevent missed diagnosis or misdiagnosis.

Multisystem smooth muscle dysfunction syndrome in a Chinese girl:A case report and review of the literature

BACKGROUND Multisystemic smooth muscle dysfunction syndrome(MSMDS) is a rare genetic disease worldwide. The main mutation is the actin alpha 2(ACTA2) gene p.R179 H. In this paper, we report a Chinese MSMDS patient and systematically review the previous literature.CASE SUMMARY Here, we report a 9.6-month-old Chinese girl who was diagnosed with MSMDS based on her history and symptoms, such as recurrent cough, wheezing, and complications with congenital fixed dilated pupils. Chest high-resolution computed tomography revealed inhomogeneous lung transparency, obvious exudative lesions, and some lung fissures that were markedly thickened. Cranial magnetic resonance imaging excluded bleeding and infarction but showed abnormal signals in the centrum ovale majus and bilateral periventricular regions. Echocardiography only showed patent foramen ovale, and no patent ductus arteriosus, pulmonary artery dilatation, or pulmonary hypertension was found. Bronchoscopy indicated moderate bronchial malacia. These examinations in conjunction with the typical eye abnormality suggested a diagnosis of MSMDS, and sequencing of exon 6 of the ACTA2 gene demonstrated the heterozygous mutation c.536 G>A, p.R179 H. However, her parents' gene analyses were normal.CONCLUSION MSMDS is a rare genetic disease mainly caused by the mutation of the ACTA2 gene p.R179 H. Early genetic diagnosis should be performed for children presenting with congenital fixed dilated pupils and patent ductus arteriosus.During the process of diagnosis and treatment, clinicians should be on high alert for cerebrovascular, cardiovascular, and pulmonary complications.

Vasospastic angina in women: Clinical backgrounds and prognoses of patients younger than and older than 60 years

BACKGROUND We frequently encounter cases of women with vasospastic angina(VSA).Additionally,some women with VSA are younger than 60 years old.However,it is unknown whether the characteristics of VSA in women aged<60 years are different from those in women aged≥60 years.AIM To investigate and compare the clinical characteristics and prognosis of VSA in women aged<60 years from those in women aged≥60 years.METHODS We enrolled 94 women with VSA who were diagnosed using the spasm provocation test.According to the age at diagnosis,the patients were divided into two groups:Group Y(age<60 years,n=17)and Group O(age≥60 years,n=77).Flow-mediated dilation(FMD)and nitroglycerin(NTG)-induced dilation(NID)of the brachial artery were performed and assessed using brachial ultrasonography.Moreover,conventional coronary risk factors,such as atherosclerotic lesions(stenosis>20%)detected using coronary angiography and focal spasms(coronary spasm within one segment of one coronary artery),and major cardiovascular adverse events(MACE)were assessed in both groups.RESULTS Smoking was more prevalent in Group Y than in Group O(P=0.04).FMD was similar in both groups(Group O:4.3%±3.2%,Group Y:4.5%±3.3%;P=0.75),whereas NID was higher in Group Y(20.5%±8.6%)than in Group O(13.6%±5.3%,P<0.01).Atherosclerosis was not detected in Group Y but was detected in Group O(61%,P<0.01).Focal spasms were less frequent in Group Y(12%)than in Group O(38%,P=0.04).The incidence of major adverse cardiac events did not differ between the two groups(P=0.40).CONCLUSIONWomen aged < 60 years with VSA have less atherosclerotic lesions and focal spasms. These characteristicsmay be affected by smoking habits and vascular smooth muscle dysfunction.