Thread by @HFpEF

Case: 63-year-old woman with long-standing rheumatoid arthritis presents with dyspnea, LE edema, fatigue. Exam JVP 12 cm, 3/6 holosystolic murmur at LSB, 1+ LE edema. LVEF 60%. TR gradient 40 mmHg, RA pressure 15 mmHg. PASP 55 mmHg.

Mitral inflow: E velocity 62 cm/s, A 35 cm/s, E/A ratio 2.1.

Septal TDI: Septal e’ 5 cm/s

Lateral TDI: Lateral e’ 7 cm/s

Besides diuresis, what would you do next? How would you grade diastolic function? What type of pulmonary hypertension does the patient have?

Correction: E/A 1.8

This was her ECG at the time of presentation to my clinic:

1/ This was one of the first patients I saw in the @NMCardioVasc HFpEF Clinic when I started it in 2007 at @NorthwesternMed . This was before speckle-tracking echo was widely available and before bone scintigraphy for ATTR-CM.

2/ Diastolic function was reported as “normal”, so her PCP worked her up for PAH. However, 1 look at the A4c echo and it looks like restrictive cardiomyopathy. Small ventricles, big atria. Normative values are not always helpful.

3/ Here the atria are clearly big compared to the ventricles. Biventricular hypertrophy is also present, and the motion of the LV myocardium is consistent with restrictive cardiomyopathy.

4/ Diastolic function is clearly abnormal w/reduced e’ velocities. E/A ratio is almost 2 in a patient with clear HF. At her age, E/A should be closer to 1. So that alone tells us the diastolic fxn is abnormal (grade 2) and this is pulmonary venous HTN.

5/ I ordered a cardiac MRI and it showed LVEF 66%, concentric LVH (1.5 cm), RVH. Atypical patchy mild LGE in mid-anterolateral and apical inferior segments.

6/ RHC showed: RA, PA 65/24 (mean 38), PCWP 22, CO 3 L/min with evidence of restrictive physiology with dip-and-pleateau in the RV and LV tracings, which were concordant.

7/ I went to PubMed and searched “rheumatoid arthritis AND restrictive cardiomyopathy”. Case reports of hydroxychloroquine cardiomyopathy came up, so I proceeded with endomyocardial biopsy. H&E showed evidence of intense vacuolization of the cardiomyocytes:

8/ Electron microscopy showed myelin figures characteristic of hydroxychloroquine cardiomyopathy (she had been on hydroxychloroquine for 20+ years for her RA).

9/ I stopped the hydroxychloroquine (HCQ) and treated her HF w/diuretics. She went on to develop near-complete blindness from HCQ maculopathy, and HCQ skeletal myopathy. But she went on to live 11 more years despite her significant restrictive cardiomyopathy.

10/ A good example that diastology guidelines are not perfect. Use the clinical info and 2D echo to help guide assessment of diastology. And don't be afraid to perform endomyocardial biopsy in HFpEF patients!

Additional notes: AL amyloid work-up was negative. AA amyloid unlikely because cardiac involvement is very rare though possible, another indication for endomyocardial biopsy in this patient.