|Year : 2015 | Volume
| Issue : 1 | Page : 19-24
A case of cardiomyopathy: Systemic congestion with minimum clinical features
Sandeep Seth, Abhinit Gupta
Department of Cardiology, All India Institute of Medical Sciences, New Delhi, India
|Date of Web Publication||22-May-2015|
Dr. Sandeep Seth
Department of Cardiology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi - 110 029
Source of Support: None, Conflict of Interest: None
A patient with systemic congestion, jaundice and pedal edema is presented and the clinical approached is discussed. The clinical findings, along with the ECG, Chest xray and Echocardiogram are used to arrive at a diagnosis. A brief description of some of the conditions including restrictive cardiomyopathy, constrictive pericarditis, amyloid etc are discussed. The differential diagnosis at each stage of presentation i.e. history and examination are presented and discussed.
Keywords: Bedside medicine, Case discussion, Restrictive cardiomyopathy
|How to cite this article:|
Seth S, Gupta A. A case of cardiomyopathy: Systemic congestion with minimum clinical features. J Pract Cardiovasc Sci 2015;1:19-24
|How to cite this URL:|
Seth S, Gupta A. A case of cardiomyopathy: Systemic congestion with minimum clinical features. J Pract Cardiovasc Sci [serial online] 2015 [cited 2020 Aug 11];1:19-24. Available from: http://www.j-pcs.org/text.asp?2015/1/1/19/157557
| The Case|| |
MK a 24-year-old boy presented with shortness of breath, swelling of feet and jaundice for 9 years.
The symptoms started 9 years ago when the child had developed acute onset mild breathlessness, yellowness of eyes and passing of deep yellow urine, along with swelling over the abdomen and feet. For this, he went to a local hospital and then was referred to a tertiary care hospital. Here he was admitted for more than a month and during this period he underwent a procedure from the right thigh. He also had a procedure from the left buttock. Details of either procedure are not available from the history. At discharge, he was put on medications including anti-tubercular therapy (ATT). He did not complete the ATT and stopped all his medications at 5 months. He was subsequently very mildly symptomatic, without medications and could continue with his schooling.
Five years ago, the boy again became symptomatic with slight increase in shortness of breath which was treated at a local hospital with drugs which the patient remembers as digoxin and a diuretic and he improved and then he again stopped the drugs after a few months of treatment.
His current illness dates back to 1-year. He again developed yellowing of the sclera of the eye, increase in the shortness of breath and passage of dark yellow urine. There was also mild swelling over the legs. He again came to the tertiary care hospital care for treatment. where he underwent detailed investigations.
On questioning, it was found out that he was actually never really totally asymptomatic and had actually adjusted to a mild degree of symptoms by adjusting his lifestyle and reducing his activity level. The shortness of breath never progressed to the extent of interfering with his daily activities, and he never had orthopnea or paroxysmal nocturnal dyspnea.
During these 9 years, he did not have any procedure during which fluid was removed using a needle from either the chest or the abdomen. He was not being prescribed any injections on a monthly basis. There is no history of frequent respiratory infections in childhood. There is no history of any addictions or drug abuse. There is no history of any trauma to the chest. He was never noticed to be cyanosed as a child. There is no history of fever. There is no history of joint pain or swelling. No history of skin rashes. He had lived his entire life in Northern India, and there was no history of having spent any major portion of his life in Southern India.
| Examiners|| |
"At this Point, Summarize the History and Discuss the Differential Diagnosis"
MK, a 24-year-old boy, presented with a history of mild shortness of breath, jaundice and systemic congestion. The symptoms started 9 years ago, he was treated, had some improvement, and has again worsened for 1-year. He received an incomplete course of ATT therapy 9 years ago.
- Note 1: When you are asked to summarize the history, the summary has to be brief as shown above and to the point. It should in 3-4 sentences highlight the main point of the history or the findings.
| Discussion|| |
The history briefly is of shortness of breath with jaundice and systemic congestion which has been there for 9 years, was treated initially improved and now recurred. There is no history of any recurrent respiratory infections in early childhood to suggest a shunt lesion, and he has been prescribed ATT from a tertiary hospital at the beginning of this illness.
In analysis of this history
I have mainly considered lesions which would cause right-sided failure but not left-sided failure. I have excluded left-sided lesions currently at least in the history mainly because the dyspnea has not progressed beyond Class II and usually left-sided lesions cause Class III-IV dyspnea before they cause right-sided failure.
| Examiners|| |
Would you like to think of a left to right shunt or rheumatic heart disease?
I excluded a left to right shunt because there is no history of recurrent infection as a child. Occasionally such children can present with pulmonary hypertension and systemic congestion with a childhood history of illness but I would have expected such a child to present with more symptoms and also not have a waxing waning nonprogressive course lasting almost a decade. With regards to rheumatic heart disease, there are no additional symptoms like palpitations, angina, or orthopnea to point to left-sided valvular lesions, no history suggestive of rheumatic fever nor a history of being prescribed penicillin prophylaxis after treatment at a tertiary care hospital. I would therefore not consider a strong possibility on the history alone.
| Examination|| |
On examination, he was afebrile. There was mild jaundice. There was no pallor, and the saturation was 100% in both upper and lower limbs (For all cardiac patients, make it a point to check the saturation and look for cyanosis in all four limbs). There was currently no pedal or sacral edema. Hepatojugular reflux was negative.
The jugular venous pressure (JVP) was raised to above 10 cm above the sternal angle in the sitting position. Both "a" and "v" waves were present. The "y" descent was more prominent than the "x" descent. The respiratory variation was normal.
The pulse rate was 82/min; the rhythm was sinus. The pulse was of normal character and volume and all peripheral pulses were palpable. The blood pressure was 110/70 in the right upper limb and 120/70 in the right lower limb.
The precordium was symmetrical with no deformity or bulges. The apex was visible in the 5 th intercostal space about 2 cm outside the midclavicular line. On palpation the apex was diffuse, the impulse was ill sustained, and the point of maximum impulse was in the 5 th intercostal space 2 cm outside the midclavicular line. It appeared to be a left ventricular (LV) form of apex.
| Examiner's interjection|| |
"Probably you should re-examine the patient and see the kind of apex…"
I think it is a right ventricular (RV) apex after reevaluation. The impulse is continuous with the impulse which is seen near the parasternal area; it is diffuse and the enlargement with lateral displacement in the 5 intercostal space. Hence, the apex is displaced up and to the side suggestive of a RV apex (this highlights a point that if a finding does not match the rest of the clinical findings and the history you should go back and re-examine)
This is a good reference  available on the internet to read about the cardiac impulse: Rosman HS. Precordial Impulses. In: Walker HK, Hall WD, Hurst JW, editors. Clinical Methods: The History, Physical, and Laboratory Examinations. 3 rd edition. Boston: Butterworths; 1990. Chapter 21. Available from: http://www.ncbi.nlm.nih.gov/books/NBK322/).
There was no parasternal heave. On auscultation, the first and second sounds were normal. There was a RV third heart sound over the apex. There was no fourth sound, any ejection clicks or snaps or knocks. There was no murmur heard.
The abdomen was soft. The liver was 1 cm below the costal margin. It was not tender. The liver dullness was in the fourth right intercostal space, and the liver span was 14 cm. There was no free fluid in the abdomen.
Can you highlight what are the salient positive and negative features in the examination which will aid you in your diagnosis.
Let us look at the investigations
Electrocardiogram [Figure 1]
Normal sinus rhythm, Axis 70° (note: Please always be as precise as possible when you present axis). PR interval is prolonged (0.20).
Evidence of biatrial enlargement with bifid P waves and deep negative deflections of lead V1.
Furthermore, the evidence of biventricular enlargement (right bundle branch block with large left sided forces in left-sided precordial leads, could also be due to thin chest wall).
Chest X-ray y [Figure 2]
Situs solitus; bony cage is normal. No evidence of pulmonary venous or arterial hypertension. There is cardiomegaly. The type of enlargement with upturning of the apex suggests a RV type of apex.
| Examiners|| |
This type of cardiac enlargement can be seen in many conditions. List them with some salient features.
This is almost like what we would call a "water bottle heart." The causes are multivalvular heart disease (would have pulmonary venous hypertension, pulmonary arterial hypertension [PAH] and evidence of left atrial, right atrial [RA] enlargement), Ebstein (a narrow pedicle) and pericardial effusion.
Echo [Figure 3]
|Figure 3: Echocardiogram showing subcostal image, 4 chamber image, color doppler at the tricuspid valve and M Mode echo.|
Click here to view
The inferior vena cava is dilated.
The right atrium is grossly dilated; the right ventricle is dilated but there is no apex obliteration, and the systolic function is significantly reduced. There is moderate very low-pressure tricuspid regurgitation (TR). There is no PR. The LV function is mildly reduced. The interventricular septum is moving with the right ventricle.
The Doppler studies reveal normal waves and normal respiratory variation.
The Final Diagnosis is shown below:
| Discussion|| |
Approach to a patient with predominant right heart failure
The first dictum for right heart failure is to rule out all causes of left heart failure.
Therefore history of rheumatic heart disease, congenital heart disease lesions like left to right shunts, symptoms pertaining to stenotic lesion of the left side of the heart should be asked for including angina, orthopnea, paroxysmal nocturnal dyspnea. Palpitations would point to a volume overload condition of the left side. We also need to rule out pulmonary hypertension due to a respiratory cause, so a history of recurrent bronchitis, cough and expectoration has to be taken. Examination similarily has to focus on first ruling out a left sided lesion. The next focus of examination is to see the evidence of significant pulmonary artery (PA) hypertension. These would include a history of significant dyspnea or grade II or III parasternal heave and a loud P2.
The lungs also need to be examined carefully to rule out evidence of chronic bronchitis or cor pulmonale.
If we have PA hypertension, but the lungs are normal, there are no left-sided lesions, we are likely dealing with some form of primary pulmonary hypertension. In this case, we look for causes: Auscultate the lungs feel for murmurs which would point to peripheral PA stenosis, look for any evidence of deep vein thrombosis or a hypercoagulable state which points to pulmonary embolism.
The other possibility is an Eisenmenger state. In our case we have no evidence of pulmonary hypertension, so we now need to look at the approach to right heart failure with normal PA pressure.
If the evidence points to normal PA pressure the causes to consider include RV outflow tract (RVOT) obstruction at any level (commonly pulmonic stenosis, but sub pulmonic and supravalvular stenosis also must be considered, diseases involving the tricuspid valve including TR (infective endocarditis), Ebstein's anomaly. Restrictive cardiomyopathy predominantly of the right ventricle are some of the conditions to consider [Table 1]. Constrictive pericarditis is another condition to be considered. Each of these conditions has certain features which help in the diagnosis. In RVOT obstruction, there is a parasternal heave, but no evidence of pulmonary hypertension like loud P2. There will also be an ejection systolic murmur which will be late peaking. Tricuspid valve involvement will cause TR, which will be a low-frequency murmur if there is no PAH and a high-frequency murmur in the presence of PAH. Ebstein's anomaly may have the presence of cyanosis also.
In restrictive cardiomyopathy, the main feature is that there is systemic congestion, but there are very few findings and at the most a soft TR murmur and may be U waves in the JVP. Constrictive pericarditis is discussed below but again systemic congestion, a basal JVP, a "M" pattern in the JVP and a silent heart is classical.
This is in some aspects, a typical case of a restrictive cardiomyopathy: They present most often with features of right-sided heart failure and on examination there are very few findings: Mainly evidence of normal ventricular systolic function but presence of diastolic dysfunction with systemic congestion or dyspnea. Constrictive pericarditis is usually the differential in this and the way to finally distinguish is often to image the pericardium by a high resolution computed tomography scan. In this case, the ATT was confusing. ATT was given empirically because he had mediastinal lymph nodes. His clinical records revealed that he actually had what looked like a RV mass 9 years ago and at that time a biopsy had revealed only fibrosis. Possibly that was an acute phase of the cardiomyopathy with a RV mass which could have been a thrombus which gradually resolved and later evolved into a right sided restrictive cardiomyopathy
There is a complete list of restrictive cardiomyopathy which one needs to be aware of but practically the ones that are seen commonly are endomyocardial fibrosis (EMF), idiopathic restrictive cardiomyopathy (IRCMP), hemochromatosis, sarcoidosis and cardiac amyloid and each of them have certain distinguishing [Table 1].
Constrictive pericarditis is always a differential whenever restrictive cardiomyopathy is diagnosed
Constrictive pericarditis results from fibrosis and calcification of the pericardium and leads to inhibition of diastolic filling of the heart. The etiology was tubercular in older days but now chest radiation and open heart surgical procedures are also important causes (these are causes where the pericardial thickness may be normal). The pathophysiology is well-described, and the thickened pericardium, and the high atrial pressure leads to sudden restriction of the diastolic filling leading to the familiar "dip and plateau" curve on ventricular pressure traces. Dynamic changes also occur with respiration, and this is reflected as an inspiratory decrease in the initial E velocity on the mitral inflow Doppler traces. A septal bounce is seen due to the interaction of LV and RV diastolic pressures. This article gives good material to read: (Nishimura RA. Heart 2001  ). The main objective of echocardiography in chronic constrictive pericarditis (CCP) is to rule out other causes. Evidence of biatrial enlargement with thickness of ventricular walls with near normal ventricular size and function with abnormal texture of walls goes more in favor of restrictive cardiomyopathy. The rest of the differences are tabulated in this article. In this patient, there is the history of ATT but no other evidence to point to CCP in the history or anywhere in the examination, so a diagnosis of CCP can safely be ruled out.
Some of the differentiating features are highlighted in [Table 2].
Endomyocardial fibrosis is another strong possibility
Endomyocardial fibrosis is a disorder of the tropical and subtropical regions of the world. It was common in the southern coastal areas of India especially Kerala though it is becoming less common now.
In EMF, the underlying pathological process produces patchy fibrosis of the endocardial surface of the heart, leading to reduced compliance and ultimately, restrictive physiology. Endocardial fibrosis principally involves the apices of the right and left ventricles and may affect the atrioventricular valves mainly by tethering the papillary muscles, leading to tricuspid and mitral regurgitation (MR).
Olsen described 3 phases of EMF. The first phase involves eosinophilic infiltration of the myocardium with necrosis of the subendocardium and a pathologic picture consistent with acute myocarditis. This is reportedly present in the first 5 weeks of the illness. The second stage, typically observed after 10 months, is associated with thrombus formation over the initial lesions, with a decrement in the amount of inflammatory activity present. It is possible that we initially saw our patient in this stage of the disease. Ultimately, after several years of disease activity, the fibrotic phase is reached, when the endocardium is replaced by a collagenous fibrosis. This course is not observed uniformly in all patients.
Etiologies suggested include infectious, inflammatory, and nutritional processes. EMF is frequently associated with parasitic infections (e.g., helminths) and eosinophilia, although the role of parasitic infections remains speculative. The development of EMF as a sequela to toxoplasma-related myocarditis has also been described, as has a relationship of malarial infection. EMF is most frequently observed in the socially disadvantaged and in regions of sub-Saharan Africa where the disease is most prevalent; the typical diet is high in a tuber called cassava, which contains relatively high concentrations of cerium (Ce). The combination of high Ce levels and hypomagnesemia has been shown to produce EMF-like lesions in laboratory animals.
Clinical findings vary. In our adult series of 30 patients with EMF,  2 patients had isolated RV involvement and rest had a biventricular involvement with RV involvement more than LV involvement. In other series from southern India, , RV (60%) and biventricular (20%) involvement were common. In African series the distribution has been different (LV 40%, RV 10%, BV 50%). Overall the incidence of EMF is decreasing worldwide and in most countries with development, the incidence has come down and is also occurring in relatively older populations.
Echocardiography: Findings include wall thickening, apical apical obliteration, thrombi adherent to the endocardial surface, MR, and TR, a pericardial effusion is frequently present, dilated RVOT Partially obliterated RV cavity/inflow tract fibrosis and hugely dilated RA.
Delayed-enhancement magnetic resonance imaging (MRI) of left ventricle radial view demonstrates subendocardial hyperenhancement of the apex of the left ventricle, suggesting fibrosis.
Biopsy findings may be nondiagnostic when the disease is patchy and sampling sites do not correlate with areas of disease.
- Angiocardiography: Features of RV EMF - (1) Aneurysmal dilatation of RA (2) small and fibrosed inflow tract of RV (3) dilated, hyperdynamic outflow region (4) normally placed tricuspid valve
- Angiocardiography: Features of LV EMF - (1) Irregular outline of endocardium (2) filling defects (3) MR (4) reduced ejection fraction
- Angiocardiography: RV EMF - Grading Grade 1: Minimal involvement of RV chamber in the form of alterations in the trabecular pattern at the apex and along the septal border with irregular filling defects. Grade 2: Obliteration of the apex and adjacent border of the RV chamber, but not extending up to the tricuspid annulus. Grade 3: Obliteration of the RV chamber including the area near the tricuspid annulus, but sparing the RV outflow. Grade 4: Involvement of the RV body as well as narrowing of the outflow tract
- Angiocardiography: LV EMF - Grading - Grade 1: Generalized smoothening of the LV wall with small irregular filling defects at the apex. Grade 2: Obliteration of the apical area of the LV chamber in addition to a smooth border and irregular filling defects. Grade 3: Obliteration of roughly half or more of the LV cavity.
Cardiac amyloidosis  is a clinical disorder caused by extracellular deposition of amyloid which is a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light. Amyloid involvement of the heart varies with the type of amyloid. Secondary amyloidosis quite often does not involve the heart in any significant manner while senile systemic amyloidosis and some forms of transthyretin amyloidosis invariably affect the heart. In AL amyloidosis (amyloidosis derived from a light-chain precursor) cardiac involvement can vary from none to severe. AL amyloid is occasionally associated with multiple myeloma. Systemic features of amyloid may give a clue such as macroglosia, carpal tunnel syndrome, voice change, etc. Clues include atrial arrhythmias, postural hypotension, low voltage electrocardiogram (ECG), granular sparkling on echocardiogram, a restrictive pattern on Doppler; hypertrophy of ventricular walls with a normal systolic function with low voltages on ECG is very suggestive of amyloid. Cardiac MRI shows global subendocardial late gadolinium enhancement. Diagnosis requires a tissue diagnosis which either comes from a fat pad biopsy or a rectal biopsy and supportive cardiac findings or if needed an endomyocardial biopsy. Once a cardiac diagnosis is secure, we need to search for a plasma cell dyscrasia which requires serum and urine immunofixation studies rather that electrophoresis. Serum free-light-chain assays, if available are even more sensitive. A bone marrow biopsy is also mandatory to pick up plasma cells. Once the diagnosis is made, treatment is treatment of congestive heart failure and also chemotherapy which is treatment similar to myeloma therapy which is a combination of melphalan and steroids. Some of the other types of amyloid can also involve the heart but less commonly, and include ATTR (familial), Amyloid A(AA) type of amyloidosis rarely and senile amyloid. The clinical course and the subsequent findings in this patient do not suggest the possibility of amyloidosis.
This completes our approach to a case of restrictive cardiomyopathy. In summary, a patient with excess of congestive features but few findings where a careful look at various clues helped us arrive arrive at the correct diagnosis.
| References|| |
Rosman HS. Precordial impulses. In: Walker HK, Hall WD, Hurst JW, editors. Clinical Methods: The History, Physical, and Laboratory Examinations. 3 rd
ed., Ch. 21. Boston: Butterworths; 1990. Available from: http://www.ncbi.nlm.nih.gov/books/NBK322/
. [Last accessed on 2015 Mar 25].
Nishimura RA. Constrictive pericarditis in the modern era: A diagnostic dilemma. Heart 2001;86:619-23.
Seth S, Thatai D, Sharma S, Chopra P, Talwar KK. Clinico-pathological evaluation of restrictive cardiomyopathy (endomyocardial fibrosis and idiopathic restrictive cardiomyopathy) in India. Eur J Heart Fail 2004;6:723-9.
Tharakan J, Bohora S. Current perspective on endomyocardial fibrosis. Curr Sci 2009;97:405-10.
Valiathan MS. Endomyocardial fibrosis. Natl Med J India 1993;6:212-6.
Falk RH. Diagnosis and management of the cardiac amyloidoses. Circulation 2005;112:2047-60.
[Figure 1], [Figure 2], [Figure 3]
[Table 1], [Table 2]