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60 year old woman with concentric LV hypertrophy and weight loss

A 60-year old woman with well controlled arterial hypertension and a 3-year history of treated rheumatoid arthritis with recent episode of heart failure preceded by acute bronchitis was referred to our department for systolic dysfunction of the left ventricle (LV).
The patient suffered from anorexia and she lost 15 kg of weight within last six months.
Pericardial Disease


Upon admission to our institution the patient was haemodynamically stable, with blood pressure of 180/100mmHg and heart rate of 73 beats/min. Apart from cachexia no other abnormality was revealed by the physical examination. Her family history was not suggestive of familiar form of cardiomyopathy. ECG showed sinus rhythm with normal PQ and QT intervals, normal QRS width and voltage criteria of LV hypertrophy.

Echocardiographic examination demonstrated non-dilated (end-diastolic diameter 45mm) LV with diffuse hypokinesis with moderate systolic dysfunction (ejection fraction 43%) and restrictive pattern of LV filling. Concentric LV hypertrophy was present (interventricular septum and posterior wall 15 and 16 mm, respectively) ( Figure 1) . Both atria were dilated. The right ventricle was non-dilated but hypertrophic (free wall thickness 7mm). Severe pulmonary hypertension was suspected based on tricuspid regurgitation peak gradient. There were no significant valvular abnormalities. Small pericardial effusion was found.

Echocardiography showed concentric hypertrophy and mildly reduced contractility of the left ventricle.



Figure 1. Echocardiography showed concentric hypertrophy and mildly reduced contractility of the left ventricle.






Cardiac MRI examination confirmed the presence of concentric hypertrophy of the LV and moderate systolic dysfunction due to diffuse hypokinesis. T2- weighted imaging did not reveal signs of myocardial oedema. Late gadolinium enhancement (LGE) was present in subepicardial to midmyocardial part of the inferior wall (Figure 2).


Cardiac MRI demonstrated late gadolinium enhancement (LGE) in subepicardial to midmyocardial part of the inferior wall


Figure 2. Cardiac MRI demonstrated late gadolinium enhancement (LGE) in subepicardial to midmyocardial part of the inferior wall












Coronary angiography excluded any coronary artery pathology and right heart catheterization detected postcapillary pulmonary hypertension (pulmonary artery mean pressure 35 mmHg, wedge pressure 20 mmHg).
Chest X-ray revealed no significant pathology and ultrasound of the abdomen and pelvis detected only mild hepatomegaly. Laboratory examinations showed elevated erythrocyte sedimentation rate (FW 52 mm/h).CRP and blood count were within normal ranges. Minerals, glucose, urea, creatinine, liver enzymes and thyroid hormones were normal. There was no abnormality regarding the urine examination. Tumor markers were not elevated.



Questions:

1) Can we make the final diagnosis based on the above cited results?
2) If not, which examination would you recommend to perform further?

Conclusion:

1) Can we make the final diagnosis based on the above cited results?
According to patient’s history and results of ECG, echo, MRI and cardiac catheterization, our patient suffers from hypertrophic cardiomyopathy with moderate systolic dysfunction and severe diastolic dysfunction (restrictive filling pattern). Moreover, history of weight loss of unknown origin is present. Based on this information we assumed that this lady with the history of rheumatoid arthritis might have an infiltrative cardiomyopathy such as cardiac amyloidosis.

2) If not, which examination would you recommend to perform further?
In order to elucidate the cause of weight loss and to clarify the underlying myocardial process we decided to perform upper and lower gastrointestinal tract (GIT) endoscopies and take multiple biopsies. The patient underwent colonoscopy with rectal biopsy and no pathology was revealed. The upper GIT endoscopy found signs of gastritis and edema of the D2 part of duodenum. Biopsy taken from the stomach detected only mild form of chronic gastritis but in the biopsy obtained from the duodenum amyloid was described. The intestinal sample with amyloid was analyzed by immunohistochemistry and the diagnosis of AA amyloidosis was confirmed. Based on the detection of AA amyloidosis we suppose our patient is having hypertrophic cardiomyopathy with restrictive physiology due to AA type of cardiac amyloidosis.

Discussion
Amyloidosis is a disorder caused by extracellular deposition of insoluble abnormal fibrils, derived from aggregation of misfolded normally soluble protein. Cardiac amyloidosis represents heart involvement caused by interstitial amyloid deposition (1). Heart impairment is usually associated with AL amyloidosis or transthyretin forms of amyloidosis (2). AA amyloidosis (secondary amyloidosis) represents a rather rare cause of cardiac amyloidosis and heart involvement is present in less than 10% of patients (3). AA amyloidosis results from the accumulation of amyloid A fibrils formed from an acute phase reactant, serum amyloid A protein. This type of amyloidosis is usually associated with rheumatoid arthritis, Mediterranean fever, inflammatory bowel disease and chronic infections of different origins. Kidneys and GIT are frequently involved and renal impairment usually dominates. Heart involvement is typically clinically insignificant (4,5). In order to make the definite diagnosis of AA amyloidosis biopsy is needed. Apart from endomyocardial biopsy less invasive tissue sampling methods like GIT biopsy may be performed. To our knowledge the exact benefit of GIT biopsies for detection of cardiac AA amyloidosis remains uncertain. On the other hand GIT biopsies are very useful for patients with chronic kidney disease and suspicion on renal involvement caused by AA amyloidosis. In such patients duodenal biopsy seems to be more relevant than e.g. rectal or gingival biopsy (6). In AA amyloidosis the treatment of underlying process is essential.

References



  1. Selvanayagam JB, Hawkins PN, Paul B et al: Evaluation and Management of the Cardiac Amyloidosis. J Am Coll Cardiol 2007;50:2101–2110.

  2. Falk RH. Cardiac Amyloidosis A Treatable Disease, Often Overlooked. Circulation 2011;124:1079-1085.

  3. Shah KB, Inoue Y, Mehra MR. Amyloidosis and the Heart. Arch Intern Med 2006;166:1805-1813.

  4. Dubrey SW, Cha K, Simms RW, et al. Electrocardiography and Doppler echocardiography in secondary (AA) amyloidosis. Am J Cardiol 1996;77:313-315.

  5. Gertz MA, Kyle RA. Secondary systemic amyloidosis: response and survival in 64 patients.
    Medicine (Baltimore) 1991;70:246-256.

  6. Yilmaz M, Unsal A, Sokmen M, et al. Duodenal biopsy for diagnosis of renal involvement in amyloidosis. Clin Nephrol. 2012 Feb;77(2):114-8. doi: 10.5414/CN107139

Notes to editor


Presented by: Petr Kuchynka M.D., Ph.D., Tomas Palecek, M.D., Ph.D., and Ales Linhart, M.D.,Ph.D.
2nd Department of Internal Medicine - Clinical Department of Cardiology and Angiology, First Faculty of Medicine and General University Hospital, Charles University, Prague, Czech Republic

The content of this article reflects the personal opinion of the author/s and is not necessarily the official position of the European Society of Cardiology.