Primary endocardial fibroelastosis: an underappreciated cause of cardiomyopathy in children

Seki, Atsushi; Patel, Sumit; Ashraf, Sana M.; Perens, Gregory; Fishbein, Michael C.

doi:10.1016/j.carpath.2013.02.003

Cited by 45 publications

(53 citation statements)

References 25 publications

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“…Endocardial fibrosis has been described in NS 8 and it has also been demonstrated in patients with endomyocardial fibrosis, M A N U S C R I P T A C C E P T E D ACCEPTED MANUSCRIPT 10 Loeffler syndrome, and endocardial fibroelastosis -all diagnoses that exhitbit restrictive physiology. [20][21][22][23][24][25] We speculate that the persistent left atrial dilation noted in NS patients postmyectomy may be a reflection of residual restrictive physiology. Histopathologic examination of such specimens may yield important clues as to the differences in the pathobiology between NS and HC.…”

Section: Discussionmentioning

confidence: 99%

Surgical Ventricular Septal Myectomy for Patients With Noonan Syndrome and Symptomatic Left Ventricular Outflow Tract Obstruction

Poterucha

Johnson

O’Leary

et al. 2015

The American Journal of Cardiology

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Section: Discussionmentioning

confidence: 99%

Surgical Ventricular Septal Myectomy for Patients With Noonan Syndrome and Symptomatic Left Ventricular Outflow Tract Obstruction

Poterucha

Johnson

O’Leary

et al. 2015

The American Journal of Cardiology

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“…[1,6] Endocardial fibroelastosis (EFE), with characteristics like hyperplasia of endocardial elastic fibers and diffuse thickening of endocardium is an important differential diagnosis as it could arise as a result of ALCAPA and they always have similar clinical features in early stage. [7] Here we reported 3 misdiagnosed cases as EFE in infancy, aiming to improve the recognition of ALCAPA and intending to provide some differential key points for the identification of ALCAPA and EFE.…”

Section: Introductionmentioning

confidence: 99%

Misdiagnosed anomalous left coronary artery from the pulmonary artery as endocardial fibroelastosis in infancy

et al. 2017

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Introduction:Anomalous left coronary artery from the pulmonary artery (ALCAPA) is a rare but severe congenital cardiac malformation. The prognosis mainly depends on the early and accurate diagnosis and treatment. However, without a typical and specific clinical manifestation in early stage, ALCAPA has a higher rate of false initial diagnosis.Diagnostic and therapeutic procedure:Three infants with impaired left ventricle (LV) function, LV enlargement, mitral valve regurgitation (MR), and LV endocardium thickness were initially diagnosed as endocardial fibroelastosis (EFE). Due to the treatment effectiveness with prednisone acetate and digoxin, abnormal Q waves with T inversion, and dilated right coronary artery (RCA), the diagnosis of ALCAPA was suspected. Lastly, cardiac angiography confirmed the diagnosis. All of them were transferred to the cardiac surgery department and received a successful surgical repair. The follow-up results showed that abnormal Q waves with T waves inversion on electrocardiogram gradually regressed and disappeared, LV ejection fraction and LV dilation returned to a normal range after surgery, with alleviation of MR. Besides, endocardial thickness secondary to ischemia also returned to normal.Conclusion:ALCAPA should be suspected when confronted with patients with left heart enlargement, impaired left ventricular function, and signs of myocardial ischemia, particularly in infancy. EFE is an important differential diagnosis and may also arise as a result of ALCAPA. Abnormal Q waves with T waves inversion, particularly in avL, dilated RCA and increased ratio of RCA/AO are important differential key points for the identification of ALCAPA and EFE. Awareness of this condition is essential for prompt recognition and referral to a tertiary cardiac center to enable early surgical intervention and improved prognosis for these children.

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“…A typical pediatric cardiomyopathy, quite similar to our finding, had been already described in autopsy since the 1950s, and it was called primary endocardial fibroelastosis (EFE) ( 19 , 20 ). Such entity was presumed to lead to a DCM ( 21 ). Thus, although primary EFE had been previously labeled as a separate form of cardiomyopathy, in 2006 the new classification of the American Heart Association does not consider it anymore as an isolate disease and includes it in the spectrum of DCM ( 22 ).…”

Section: Discussionmentioning

confidence: 99%

Results of Late Gadolinium Enhancement in Children Affected by Dilated Cardiomyopathy

et al. 2017

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BackgroundLittle is known about the clinical value of late gadolinium enhancement (LGE), in children affected by dilated cardiomyopathy (DCM).Materials and methodsWe retrospectively evaluated 15 patients (8 ± 6 years, 6 males) with diagnosis of DCM who underwent cardiac magnetic resonance since 2014. All scans were performed with a 1.5 T system (Aera, Siemens). Study protocol included cine steady-state free precession sequences, followed by administration of 0.2 mmol/kg of gadolinium-based contrast agent. Inversion recovery Turbo Flash sequences, in the same position of cine images, were acquired 10–15 min after the injection of contrast agent, in order to assess the presence of LGE. The latter was considered positive with a signal intensity >6 SD from normal myocardial tissue. Indexed end-diastolic volume (EDVi) and end-systolic volume (ESVi), and left ventricle (LV) ejection fraction (EF) were calculated by using dedicated software on off-line workstation. Global longitudinal strain and diastolic function were evaluated by echocardiography. Clinical follow-up, including death, transplant, and listing for heart transplant [major adverse cardiac events (MACE)], were evaluated. Patients were divided into two different subgroups: negative (Group A) and positive (Group B) for presence of LGE. Statistical analysis was performed by using Mann–Whitney U test (p < 0.05 considered as statistically significant).ResultsSeven patients (47%) showed LGE. A global diffuse subendocardial pattern was evident in all patients presenting LGE (7/7, 100%). The following main LV indexes were observed in the two subgroups. Group A: EDVi = 96 ± 33 ml, ESVi = 56 ± 29 ml, LV EF = 45 ± 10%, global longitudinal strain = −16 ± 5%, E/e′ ratio = 10 ± 3, MACE = 1. Group B: EDVi = 130 ± 60 ml, ESVi = 89 ± 43 ml, LV EF = 31 ± 6%, global longitudinal strain = −13 ± 4%, E/e′ ratio = 9 ± 3, MACE = 3. There was no statistically significant difference between the two groups, in terms of EDVi (p: 0.2), ESVi (p: 0.2), and E/e′ ratio (0.9), whereas a significant difference of LV EF, presence of significative mitral regurgitation, and global longitudinal strain were observed (respectively, p: 0.03, p: 0.009, and p: 0.03).ConclusionIn our population of children with DCM, LGE shows a global diffuse subendocardial pattern. Presence of LGE seems to play a role in these patients determining a worst global systolic function.

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Primary endocardial fibroelastosis: an underappreciated cause of cardiomyopathy in children

Cited by 45 publications

References 25 publications

Surgical Ventricular Septal Myectomy for Patients With Noonan Syndrome and Symptomatic Left Ventricular Outflow Tract Obstruction

Surgical Ventricular Septal Myectomy for Patients With Noonan Syndrome and Symptomatic Left Ventricular Outflow Tract Obstruction

Misdiagnosed anomalous left coronary artery from the pulmonary artery as endocardial fibroelastosis in infancy

Results of Late Gadolinium Enhancement in Children Affected by Dilated Cardiomyopathy

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