Online Clinical Case Study (October 2017)

Clinical Cardiology Series

The content of the October Cardiology Series is provided by:
Dr. LI Ying Wah, Andrew
MBBS (HK), FHKAM (Med), Specialist in Cardiology
Dr. LO Ka Yip, David
MBChB (CUHK), FHKAM (Med), Specialist in Cardiology

Heart failure in disguise

A 69-year-old gentleman presented to our cardiology out-patient clinic for gradual onset exertional dyspnoea and bilateral ankle edema. He also complained of systemic symptoms including generalised malaise and weight lost. He was a retired construction site worker and a non-smoker. He enjoyed good past health without history of hypertension. Chest XR showed cardiomegaly. An ECG was performed (Figure 1).

Transthoracic echocardiography showed moderate concentric LV hypertrophy, satisfactory LV ejection fraction and a restrictive LV filling pattern.

Serum protein electrophoresis showed a very faint trace of suspected Lambda band in beta region by immunofixation study only. 24-hour urine showed insignificant amount of proteinuria and there was no Bence Jones Protein detected.

Figure 1. ECG

Figure 2. Concentric left ventricular hypertrophy shown in parasternal long axis view of echocardiography


What is shown in ECG?
A. Low QRS voltage in limb leads
B. First degree AV block
C. Left axis deviation
D. All of the above

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What is the most probable diagnosis?
A. Hypertrophic cardiomyopathy
B. Amyloidosis
C. Fabry's disease
D. Hypertensive heart

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Which ONE is the best investigation in the next step?
A. Endomyocardial biopsy
B. Serum free light chain assay
C. Cardiac MRI
D. Genetic test

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  1. D
2. B
3. C

For the progress of the patient, serum free light chain assay showed significant free Lamda band. Cardiac MRI (figure 2) showed an abnormal temporal sequence of nulling in inversion-time scout. There was no inducible ischaemia. The CMR finding was suggestive of amyloid heart disease rather than hypertrophic cardiomyopathy. Rectal biopsy showed colonic tissues which were positive for Congo red and exhibited apple green birefringence on polarized light. Bone marrow examination was suggestive of plasma cell myeloma. The patient was referred to the hematologist for chemotherapy.

Cardiac amyloidosis can present with restrictive cardiomyopathy. As in our case it mimics congestive heart failure but with incongruent echocardiographic finding of preserved LV systolic function. Rarely, it can present as conduction abnormality such as heart block or sick sinus syndrome.

Clinical cardiac manifestation as part of multisystem disease is reported in up to 50% of AL amyloidosis. As in our case, amyloidosis with isolated cardiac presentation can happen in 4% of AL amyloidosis, whereas clinical cardiomyopathy is very rare in AA amyloidosis. This poses a diagnostic challenge as in our patient. Although tissue biopsy is the standard of diagnosis, rectal or nerve biopsy may not be the ideal first line test in the absence of neurological or gastrointestinal symptoms. On the other hand, endomyocardial biopsy (EMBx) may be limited by its invasiveness even if isolated cardiac amyloidosis is suspected.

Previous studies have compared diagnostic accuracy of various non-invasive tests for cardiac amyloid with EMBx as reference (table 1). The classical combination of low-voltage ECG criteria and the presence of restrictive physiology in echocardiography are sensitive but not specific for diagnosis. Cardiac MRI showed good performance in both positive and negative predictive value (88% and 90% respectively) [1]. Inversion-time scout is a time efficient sequence. Its temporal pattern of myocardial signal nulling distinguish amyloidosis from other differentials such as concentric type of hypertrophic cardiomyopathy [2], which otherwise may not be possible on echocardiography. Novel MRI sequence such as T1 mapping has high diagnostic accuracy even without use of contrast media, and is applicable to patients with renal impairment [3].

Left ventricular hypertrophy in echocardiography in the absence of hypertension is an important clue to underlying infiltrative disease, of which amyloidosis is the most common in Asian population. Cardiac MRI is a practical non-invasive surrogate to myocardial biopsy in the diagnosis of cardiomyopathy.

Table 1. Diagnostic accuracy of various noninvasive criteria in patients with suspected cardiac amyloid that underwent EMBx. DHE: delayed hyperenhancement (adapted from ref. 1)

Figure 2. Concentric left ventricular hypertrophy shown in parasternal long axis view of echocardiography

Figure 3. Cardiac MRI images showing myocardial nulling difficult to achieve on delayed enhancement after contrast administration. Temporal sequence of nulling was also abnormal (not shown here).


  1. Austin BA, Tang WH, Rodriguez ER, et al. Delayed Hyper-Enhancement Magnetic Resonance Imaging Provides Incremental Diagnostic and Prognostic Utility in Suspected Cardiac Amyloidosis. JACC Cardiovasc Imaging 2009; 12: 1369-1377
  2. Pandey T, Jambhekar K, Shaikh R, et al. Utility of inversion scout sequence (TI scout) in diagnosing myocardial amyloid infiltration. Int J Cardiovasc Imaging 2013; 29: 103-112
  3. Karamitsos TD, Piechnik SK, Banypersad SM, et al. Noncontrast T1 mapping for diagnosis of cardiac amyloidosis. JACC Cardiovasc Imaging 2013; 6: 488-497
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Dermatology Series 皮膚科病例研究

Dermatology Series for October 2017 is provided by:
Dr. LEUNG Wai Yiu, Dr. TANG Yuk Ming, William, Dr. CHAN Hau Ngai, Kingsley, Dr. KWAN Chi Keung and Dr. CHANG Mee, Mimi
Specialists in Dermatology & Venereology

A gentleman with a buttock nodule on for a year

A gentleman aged 30 has a growing nodule on his buttock for a year. This concerned him as a similar nodule was found on his groin three weeks ago which caused pain but fell off spontaneously. He has not contracted any venereal disease and the general physical examination was normal. Local examination revealed a 1cm pedunculated polyp on his buttock.


1. What is the clinical diagnosis?
a. Skin tag
b. Genital wart
c. Seborrhoeic keratosis
d. Molluscum
The clinical diagnosis is skin tag, also known as fibroepithelial polyps or acrochordons. The exact cause of skin tag has yet to be determined but frequent rubbing in obese, hormone imbalances during pregnancy, insulin resistance, skin aging and human papilloma virus are thought to be causative factors.

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2. What other parts of the body will you examine?
a. Neck
b. Armpit
c. Groin
d. Breast skin fold
e. All of the above
Besides the skinfolds of the buttocks, skin tags are commonly found on the neck, armpits, groin or the breasts skinfold, and less often around the eyelids.

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3. Who are commonly affected by this skin condition?
a. Pregnant woman
b. Elderly
c. Obese patient
d. Diabetic patient
e. All of the above
Both men and women can develop skin tags but it is more common in elderly, pregnant women and those who are obese or have diabetes.

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4. What are the treatment options?
a. No treatment required if no complications arise
b. Cryosurgery
c. Simple excision
d. All of the above
No treatment is required for fibroepithelial polyps other than cosmetically disfiguring cases, or in cases where it causes pain or discomfort due to strangulation of blood vessel or infection at the lesion site. Treatment options include cryotherapy and simple excision.

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