BACKGROUND Endocardial fibroelastosis(EFE)is a diffuse endocardial collagen and elastin hyperplasia disease of unknown etiology,which may be accompanied by myocardial degenerative changes leading to acute or chronic h...BACKGROUND Endocardial fibroelastosis(EFE)is a diffuse endocardial collagen and elastin hyperplasia disease of unknown etiology,which may be accompanied by myocardial degenerative changes leading to acute or chronic heart failure.However,acute heart failure(AHF)without obvious associated triggers is rare.Prior to the report of endomyocardial biopsy,the diagnosis and treatment of EFE are highly susceptible to being confounded with other primary cardiomyopathies.Here,we report a case of pediatric AHF caused by EFE mimicking dilated cardiomyopathy(DCM),with the aim of providing a valuable reference for clinicians to early identify and diagnose EFE-induced AHF.CASE SUMMARY A 13-mo-old female child was admitted to hospital with retching.Chest X-ray demonstrated enhanced texture in both lungs and an enlarged heart shadow.Color doppler echocardiography showed an enlarged left heart with ventricular wall hypokinesis and decreased left heart function.Abdominal color ultrasonography revealed a markedly enlarged liver.Pending the result of the endomyocardial biopsy report,the child was treated with a variety of resuscitative measures including nasal cannula for oxygen,intramuscular sedation with chlorpromazine and promethazine,cedilanid for cardiac contractility enhancement,and diuretic treatment with furosemide.Subsequently,the child’s endomyocardial biopsy report result was confirmed as EFE.After the above early interventions,the child’s condition gradually stabilized and improved.One week later,the child was discharged.During a 9-mo follow-up period,the child took intermittent low-dose oral digoxin with no signs of recurrence or exacerbation of the heart failure.CONCLUSION Our report suggests that EFE-induced pediatric AHF may present in children over 1 year of age without any apparent precipitants,and that the associated clinical presentations are grossly similar to that of pediatric DCM.Nonetheless,it is still possible to be diagnosed effectively on the basis of the comprehensive analysis of auxiliary inspection findings before the result of the endomyocardial biopsy is reported.展开更多
Pediatric cardiomyopathy has an early onset and poor prognosis.Previously,it was referred to as idiopathic cardiomyopathy due to unknown etiology.However,recent advances in molecular genetics and molecular biology hav...Pediatric cardiomyopathy has an early onset and poor prognosis.Previously,it was referred to as idiopathic cardiomyopathy due to unknown etiology.However,recent advances in molecular genetics and molecular biology have demonstrated that most pediatric cardiomyopathy cases are related to genetic factors,mainly involving single gene and single nucleotide mutations[1,2].Although the pathogenicity of some gene mutations in patients has not been fully elucidated,genetic factors are still considered the main cause of pediatric cardiomyopathy.展开更多
This paper reported a 25-year-old hospitalized woman complained of recurrent chest tightness and dyspnea for 3 months.The electrocardiogram showed pre-excitation and the echocardiogram showed left ventricular wall con...This paper reported a 25-year-old hospitalized woman complained of recurrent chest tightness and dyspnea for 3 months.The electrocardiogram showed pre-excitation and the echocardiogram showed left ventricular wall contraction reduced diffusely and moved asynchronously.In the systolic period,the regional septum basal segment moved to the right ventricle like an aneurysm.In cardiac magnetic resonance imaging examination,there was no significant myocardial fibrosis.The patient further had an endomyocardial biopsy and pathological examination showed nonspecific changes,only with mild interstitial edema.After an electrophysiological study,the patient was finally diagnosed with pre-excitation cardiomyopathy with a right anteroseptal para-hisian manifest accessory pathway.Radiofrequency catheter ablation was then performed to block the advanced pathway.6 months after ablation,the left ventricular systolic function and synchrony improved significantly,and the symptoms were alleviated.展开更多
Background： Restrictive cardiomyopathy （RCM） is the least common cardiomyopathy in which the walls are rigid and the heart is restricted from stretching and filling properly. Cardiac troponin I （cTnI） mutation-ca...Background： Restrictive cardiomyopathy （RCM） is the least common cardiomyopathy in which the walls are rigid and the heart is restricted from stretching and filling properly. Cardiac troponin I （cTnI） mutation-caused myofibril Ca2＋ hypersensitivity has been shown to be associated with impaired diastolic function. This study aimed to investigate the linkage between the genotype and clinical therapy of RCM. Methods： Five sporadic pediatric RCM patients confirmed by echocardiography were enrolled in this study.Whole-exome sequencing （WES） was performed for the cohort to find out candidate causative gene variants. Sanger sequencing confirmed the WES-identified variants. Results： TNNI3 variants were found in all of the five patients. R192H mutation was shared in four patients while R204H mutation was found only in one patient. Structure investigation showed that the C terminus of TNNI3 was flexible and mutation on the C terminus was possible to cause the RCM. Catechins were prescribed for the five patients once genotype was confirmed. Ventricular diastolic function was improved in three patients during the follow-up. Conclusions： Our data demonstrated that TNNI3 mutation-induced RCM1 is the most common type of pediatric RCM in this study. In addition, WES is a reliable approach to identify likely pathogenic genes of RCM and might be useful for the guidance of clinical treatment scheme.展开更多
Objective Restrictive cardiomyopathy(RCM) is rare in children,and little is known about the molecular basis of RCM.The aim of this study was to investigate the clinical and myopathological characteristics and to
Objective: Acute heart failure due to heart muscle disease is potentially fatal in pediatric patients. Heart transplantation (Tx) is utilized to improve survival. However, spontaneous recovery may occur. The outcome o...Objective: Acute heart failure due to heart muscle disease is potentially fatal in pediatric patients. Heart transplantation (Tx) is utilized to improve survival. However, spontaneous recovery may occur. The outcome of patients treated in centers with no Tx option was studied. Patients and Methods: A retrospective review of infants and children (≤16 years) who presented with heart muscle disease (left ventricular shortening fraction, LVSF ≤ 25%) between 1992 and2007, intwo medical centers in Jerusalem, was performed.Results: There were 62 patients, mean age 2.5 years, mean LVSF 16.3%. The 5-year survival was 73%. Lower LVSF at presentation (p = 0.006) was independently associated with mortality. Recovery (normalization of LVSF) occurred in 56% of survivors. Of the 38 patients who were eligible for Tx at their presentation, according to the AHA guidelines, 22 (58%) survived and 13 (34%) recovered.Conclusions: This study shows the long term outcome of pediatric patients with acute heart muscle disease treated with no Tx option. These findings may reflect the impact of improved medical management of these patients in recent years.展开更多
文摘BACKGROUND Endocardial fibroelastosis(EFE)is a diffuse endocardial collagen and elastin hyperplasia disease of unknown etiology,which may be accompanied by myocardial degenerative changes leading to acute or chronic heart failure.However,acute heart failure(AHF)without obvious associated triggers is rare.Prior to the report of endomyocardial biopsy,the diagnosis and treatment of EFE are highly susceptible to being confounded with other primary cardiomyopathies.Here,we report a case of pediatric AHF caused by EFE mimicking dilated cardiomyopathy(DCM),with the aim of providing a valuable reference for clinicians to early identify and diagnose EFE-induced AHF.CASE SUMMARY A 13-mo-old female child was admitted to hospital with retching.Chest X-ray demonstrated enhanced texture in both lungs and an enlarged heart shadow.Color doppler echocardiography showed an enlarged left heart with ventricular wall hypokinesis and decreased left heart function.Abdominal color ultrasonography revealed a markedly enlarged liver.Pending the result of the endomyocardial biopsy report,the child was treated with a variety of resuscitative measures including nasal cannula for oxygen,intramuscular sedation with chlorpromazine and promethazine,cedilanid for cardiac contractility enhancement,and diuretic treatment with furosemide.Subsequently,the child’s endomyocardial biopsy report result was confirmed as EFE.After the above early interventions,the child’s condition gradually stabilized and improved.One week later,the child was discharged.During a 9-mo follow-up period,the child took intermittent low-dose oral digoxin with no signs of recurrence or exacerbation of the heart failure.CONCLUSION Our report suggests that EFE-induced pediatric AHF may present in children over 1 year of age without any apparent precipitants,and that the associated clinical presentations are grossly similar to that of pediatric DCM.Nonetheless,it is still possible to be diagnosed effectively on the basis of the comprehensive analysis of auxiliary inspection findings before the result of the endomyocardial biopsy is reported.
文摘Pediatric cardiomyopathy has an early onset and poor prognosis.Previously,it was referred to as idiopathic cardiomyopathy due to unknown etiology.However,recent advances in molecular genetics and molecular biology have demonstrated that most pediatric cardiomyopathy cases are related to genetic factors,mainly involving single gene and single nucleotide mutations[1,2].Although the pathogenicity of some gene mutations in patients has not been fully elucidated,genetic factors are still considered the main cause of pediatric cardiomyopathy.
文摘This paper reported a 25-year-old hospitalized woman complained of recurrent chest tightness and dyspnea for 3 months.The electrocardiogram showed pre-excitation and the echocardiogram showed left ventricular wall contraction reduced diffusely and moved asynchronously.In the systolic period,the regional septum basal segment moved to the right ventricle like an aneurysm.In cardiac magnetic resonance imaging examination,there was no significant myocardial fibrosis.The patient further had an endomyocardial biopsy and pathological examination showed nonspecific changes,only with mild interstitial edema.After an electrophysiological study,the patient was finally diagnosed with pre-excitation cardiomyopathy with a right anteroseptal para-hisian manifest accessory pathway.Radiofrequency catheter ablation was then performed to block the advanced pathway.6 months after ablation,the left ventricular systolic function and synchrony improved significantly,and the symptoms were alleviated.
文摘Background： Restrictive cardiomyopathy （RCM） is the least common cardiomyopathy in which the walls are rigid and the heart is restricted from stretching and filling properly. Cardiac troponin I （cTnI） mutation-caused myofibril Ca2＋ hypersensitivity has been shown to be associated with impaired diastolic function. This study aimed to investigate the linkage between the genotype and clinical therapy of RCM. Methods： Five sporadic pediatric RCM patients confirmed by echocardiography were enrolled in this study.Whole-exome sequencing （WES） was performed for the cohort to find out candidate causative gene variants. Sanger sequencing confirmed the WES-identified variants. Results： TNNI3 variants were found in all of the five patients. R192H mutation was shared in four patients while R204H mutation was found only in one patient. Structure investigation showed that the C terminus of TNNI3 was flexible and mutation on the C terminus was possible to cause the RCM. Catechins were prescribed for the five patients once genotype was confirmed. Ventricular diastolic function was improved in three patients during the follow-up. Conclusions： Our data demonstrated that TNNI3 mutation-induced RCM1 is the most common type of pediatric RCM in this study. In addition, WES is a reliable approach to identify likely pathogenic genes of RCM and might be useful for the guidance of clinical treatment scheme.
文摘Objective Restrictive cardiomyopathy(RCM) is rare in children,and little is known about the molecular basis of RCM.The aim of this study was to investigate the clinical and myopathological characteristics and to
文摘Objective: Acute heart failure due to heart muscle disease is potentially fatal in pediatric patients. Heart transplantation (Tx) is utilized to improve survival. However, spontaneous recovery may occur. The outcome of patients treated in centers with no Tx option was studied. Patients and Methods: A retrospective review of infants and children (≤16 years) who presented with heart muscle disease (left ventricular shortening fraction, LVSF ≤ 25%) between 1992 and2007, intwo medical centers in Jerusalem, was performed.Results: There were 62 patients, mean age 2.5 years, mean LVSF 16.3%. The 5-year survival was 73%. Lower LVSF at presentation (p = 0.006) was independently associated with mortality. Recovery (normalization of LVSF) occurred in 56% of survivors. Of the 38 patients who were eligible for Tx at their presentation, according to the AHA guidelines, 22 (58%) survived and 13 (34%) recovered.Conclusions: This study shows the long term outcome of pediatric patients with acute heart muscle disease treated with no Tx option. These findings may reflect the impact of improved medical management of these patients in recent years.
