[A case of dilated cardiomyopathy caused by FHL2 gene variant and a literature review].

OBJECTIVE: To explore the clinical phenotype and genetic features of a child with dilated cardiomyopathy (DCM). METHODS: Clinical data of the child who had presented at the Zhengzhou Children's Hospital on April 28, 2020 was collected. Trio-whole exome sequencing (trio-WES) was carried out for the child and her parents, and candidate variants were validated by Sanger sequencing. "FHL2" was taken as the key word to retrieve related literature from January 1, 1997 to October 31, 2021 in the PubMed database and was also searched in the ClinVar database as a supplement to analyze the correlation between genetic variants and clinical features. RESULTS: The patient was a 5-month-old female infant presented with left ventricular enlargement and reduced systolic function. A heterozygous missense variant c.391C>T (p.Arg131Cys) in FHL2 gene was identified through trio-WES. The same variant was not detected in either of her parents. A total of 10 patients with FHL2 gene variants have been reported in the literature, 6 of them had presented with DCM, 2 with hypertrophic cardiomyopathy (HCM), and 2 with sudden unexplained death (SUD). Phenotypic analysis revealed that patients with variants in the LIM 3 domain presented hypertrophic cardiomyopathy and those with variants of the LIM 0~2 and LIM 4 domains had mainly presented DCM. The c.391C>T (p.Arg131Cys) has been identified in a child with DCM, though it has not been validated among the patient's family members. Based on the guidelines of the American College of Medical Genetics and Genomics, the c.391C>T(p.Arg131Cys) variant was re-classified as likely pathogenic (PS2+PM2_Supporting+PP3+PP5). CONCLUSION: The heterozygous missense variant of c.391C>T (p.Arg131Cys) in the FHL2 gene probably predisposed to the DCM in this child, which has highlighted the importance of WES in the clinical diagnosis and genetic counseling.

Protective Effect of Nalbuphine Combined With Dexmedetomidine on the Lungs of Children With Atelectasis and Foreign Body in the Bronchus During the Perioperative Period.

Objective: The present study aims to explore the protective effect of nalbuphine combined with dexmedetomidine on the lungs of children with atelectasis who have a foreign body in a bronchus during the perioperative period. Methods: A total of 180 patients whose computed tomography scan showed atelectasis and a foreign body in a bronchus were randomly divided into three groups: group C (conventional anesthesia group), group D (dexmedetomidine group), and group N + D (nalbuphine combined with the dexmedetomidine group). The following indicators were recorded: 1) heart rate (HR) and mean arterial pressure (MAP) prior to induction (T0), at bronchoscope placement (T1), at intubation after surgery (T2), at tube removal (T3), 10 min after tube removal (T4), 20 min after tube removal (T5), and at awaking (T6); 2) monocyte toll-like receptors (TLRs) TLR⁃2, TLR⁃4, tumor necrosis factor α, interleukin 6, oxygenation index, and the B-line sum at T0, T3, 2 h (T7), and 24 h (T8) after tube removal; and 3) hospital stay after surgery. Results: Compared with group C, in group D and group N + D, 1) the HR and MAP at T1∼T6 were lower; 2) the inflammatory factor indicator and B-line sum were lower, and the oxygenation index was higher at T7 and T8; 3) the agitation and cough scores were decreased during tube removal; and 4) the Ramsay sedation score was higher, and ventilator weaning time was shortened at T4∼T6 (p < 0.05). Compared with group D, in group N + D, 1) the inflammatory factor indicator and B-line sum were lower at T8; 2) the oxygenation index was higher (p < 0.05). Compared with groups C and D, in group N + D, the length of hospital stay was decreased (p < 0.05). Conclusion: In patients with atelectasis and a foreign body in a bronchus during the perioperative period, nalbuphine combined with dexmedetomidine may be capable of reducing the oxidative stress response, improving the oxygenation index, decreasing the pulmonary fluid content, protecting the lung, and facilitating postoperative recovery.