Seen one, Seek both: Complicated Pediatric Biventricular Endomyocardial Fibrosis from a non-endemic area

Presenting Author(s)

• 

  Manphool Singhal, MD, FSCMR

  PROFESSOR
  POSTGRADUATE INSTITUTE OF MEDICAL EDUCATION AND RESEARCH, CHANDIGARH, INDIA
  Chandigarh, Chandigarh, India

Primary Author(s)

• 

  Manphool Singhal, MD, FSCMR

  PROFESSOR
  POSTGRADUATE INSTITUTE OF MEDICAL EDUCATION AND RESEARCH, CHANDIGARH, INDIA
  Chandigarh, Chandigarh, India

Co-Author(s)

• GS

  Gopika Sri

  Junior Resident
  PGIMER Chandigarh
  Chandigarh, Chandigarh, India
• AS

  Arun Sharma, MD

  DR
  POSTGRADUATE INSTITUTE OF MEDICAL EDUCATION AND RESEARCH, CHANDIGARH, INDIA, India
• AB

  Ajay Bahl, MD

  Professor
  Postgraduate Institute of Medical Education and Research, Chandigarh, India, Chandigarh, India

Description of Clinical Presentation: A 9-year-old boy with stunted growth presented with complaints of progressive excessive fatigue and dyspnoea. There was no significant past medical history.

Diagnostic Techniques and Their Most Important Findings: 2D Echocardiography (EHCO) showed severely reduced LV ejection fraction (LVEF~ 25-30%) with bi-atrial enlargement, RV dysfunction with mitral and tricuspid regurgitation, pointing towards restrictive cardiomyopathy. Cardiac MRI (CMR) revealed global biventricular hypokinesia (LVEF-45%; RVEF-33%) with apical obliteration of both ventricles with a typical triangular ventricle morphology. Bilateral atria were dilated with free mitral and tricuspid regurgitation. Linear, non-territorial, subendocardial late gadolinium enhancement (LGE) was seen along the biventricular apices with a thrombus at the RV apex (Sandwich sign). A right atrial thrombus measuring ~ 2.3 x 2.1 cm was also seen.

Laboratory investigations (complete blood counts, C-reactive proteins, troponins, electrolytes, and renal function tests) were not forthcoming. The patient was managed with diuretics and anti-coagulants. Patients remained fine for a few weeks and expired after 7 months.

Learning Points from this Case:

• Endomyocardial fibrosis (EMF) is an endemic restrictive cardiomyopathy of unknown etiology that affects mainly children and young adults in some regions of Africa, South Asia, and South America. The most common age of presentation is 10-19 years, and rarely seen below the age of 10 years. CMR physicians should be aware of this entity, especially from non-endemic regions.


• EMF commonly affects a single ventricle; however, biventricular involvement may be seen.


• Cardiac MRI is the way forward for evaluation of EMF, and a scrupulous assessment of all cardiac chambers is mandatory, with identification of complications


• The hallmark features of EMF on CMR are apical ventricular obliteration (SSFP sequences), ipsilateral atrial enlargement with valvular regurgitation due to papillary muscle fibrosis (SSFP cine sequences), triangular, reduced ventricle cavity size with restrictive physiology (in chronic phase), ventricular hypokinesia with reduced mean indexed ventricular volumes with subendocardial, non-territorial, apical predominant late gadolinium enhancement (LGE sequences). Thrombus (jet black on EGE and absent perfusion at dynamic first-pass perfusion imaging) is frequently seen in the sub-endocardium or in the dilated atria. Triple-layered appearance of thrombus, enhancing sub-endocardium, with overlying normal myocardium from inside out (Carneiro double V’ or ‘Sandwich sign’) is characteristic. This appearance is typical of EMF and obviates the need for endomyocardial biopsy.


• CMR not only provides a diagnosis but also the extent of disease and complications. This is useful for prognostication and initiation of appropriate heart failure and anticoagulation therapy/ surgical treatment. This prevents untimely mortality and thrombo-embolic complications

Figure 1: SSFP (Steady-State- Free- Precession) Horizontal Long Axis (HLA) (a &b) and Vertical Long Axis (VLA) (c) images show triangular and shrunken calibre of bilateral ventricles (marked as triangular shapes in colour in a & c). Note dilated atria (RA>LA) with a hypointense filling defect in RA (b).
Figure 2: Early Gadolinium Enhancement (EGE) in Horizontal Long Axis (HLA) images at two different levels (a &b) show a jet black non-enhancing thrombus along the free wall of the RV (thin arrows) and RA (thick arrow).
Figure 3: Late Gadolinium Enhancement (LGE) images in Horizontal Long Axis (a) and mid-cavity short axis (SA) show a typical “V” shaped sub-endocardial enhancement at RV and LV apices (thin arrow in a & b), characteristic “sandwich sign” (linear thrombus-subendocardial enhancement- normal myocardium) along the free wall of RV (interrupted arrows in a), and non-territorial sub-endomyocardial enhancement in LV (arrowheads in b). Note a thrombus in the RV (thick arrow in b).