Contracted form of endocardial fibroelastosis in two siblings

Akiba, Tomoharu; Nakasato, Mitsuru; Suzuki, Hiroshi; Sato, Satoshi; Sato, Tetsuo

doi:10.1046/j.1442-200x.1999.01080.x

Cited by 4 publications

(5 citation statements)

References 10 publications

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“…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 ). Primary EFE in the original description is characterized by the presence of ventricular dilatation, diffuse fibrous endocardial thickening, upward displacement of the papillary muscles, and valve leaflets thickening ( 20 , 23 , 24 ). In terms of “outcome,” EFE is characterized by a very poor prognosis in pediatric patients ( 25 , 26 ).…”

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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Section: Discussionmentioning

confidence: 99%

Results of Late Gadolinium Enhancement in Children Affected by Dilated Cardiomyopathy

et al. 2017

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“…Familial contracted EFE has also been reported to affect girls. 3 EFE can be associated with structural heart disease such as severe neonatal aortic stenosis and hypoplastic left heart syndrome as well as intrauterine mumps infection. Ursell and co-workers described three unrelated children with contracted EFE who died within 3 days of birth, and for whom onset of the disease must also have been intrauterine.…”

Section: Discussionmentioning

confidence: 99%

“…The inheritance has been reported as X-linked, 2 or as suggestive of an autosomal-recessive status. 3 We describe a case of contracted EFE where the family history indicates an X-linked form of inheritance. …”

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confidence: 99%

X-linked Cardiomyopathy Presenting as Contracted Endocardial Fibroelastosis

Sjöberg

Chow

Cooper

et al. 2007

The Journal of Heart and Lung Transplantation

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“…A FEE primária pode se apresentar na forma dilatada, mais comum, ou na forma restritiva. Na forma dilatada, a cavidade ventricular esquerda apresenta-se aumentada; já na forma restritiva, está normal ou diminuída (1,5,6) .…”

Section: Introductionunclassified

“…Já foram relatados casos de transmissão hereditária com padrões de transmissão autossômico recessivo e recessivo ligado ao X (1,12,15,17) .…”

Section: Introductionunclassified