Online Clinical Case Study (June 2016)

Clinical Cardiology Series
臨床心臟科個案研究

The content of the June Cardiology Series is provided by:
Dr. WONG Chi Yuen
MBBS (HK), MRCP (UK), FHKCP, FHKAM (Medicine), Specialist in Cardiology
Dr. CHENG Yuet Wong
MBBS (HK), MRCP(UK), FHKCP, FHKAM(Medicine), Specialist in Cardiology
六月臨床心臟科個案研究之內容承蒙黃志遠醫生鄭月旺醫生提供。

A Young Man with Chest Pain

A 30-year-old man with a syndromal disorder presented with sudden onset of sharp retrosternal chest pain. He also complained of progressive shortness of breath on exertion and decreased exercise tolerance over few months. Physical examination revealed blood pressure of 170/45 mmHg, pulse 80/min which was regular. Cardiac examination showed displaced apex, and early holodiastolic murmur best heard at right upper sternal border. Electrocardiogram was unremarkable. Chest X-ray showed cardiomegaly, widened mediastinum and prominent pulmonary vasculature.

Figures 1 and 2 shows additional findings of general examination.


Figure 1


Figure 2

Figure 3 shows the parasternal long axis image of Echocardiogram (upper) with color flow Doppler imaging (lower). The left ventricle (LV) was dilated with reduced LV ejection fraction of 35%.


Figure 3

1. What is the mode of inheritance of this syndromal disorder?
A. Autosomal dominant
B. Autosomal recessive
C. X-linked dominant
D. X-linked recessive
   
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2.

Which of the following is NOT associated with this syndromal disorder?
A. Pectus (chest wall) deformity
B. Dislocated lens (ectopia lentis)
C. Increase arm span/height ratio
D. Hyperopia (far-sightedness)
E. Spontaneous pneumothorax

   
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3.

What is the diagnosis(es) of this patient's cardiac problem(s)?
A. Aortic aneurysm
B. Aortic dissection
C. Aortic regurgitation
D. A and B only
E. All of the above

   
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4. What is another most common cardiac problem associated with this syndromal disorder?
A. Aortic stenosis
B. Atrial fibrillation
C. Mitral valve prolapse
D. Patent foramen ovale
E. Ventricular tachycardia
   
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Answers
1. A
2. D
3. E
4. C

This gentleman has Marfan syndrome, which is a connective tissue disorder inherited in autosomal dominant manner with reported incidence of 1 in 3000 to 5000 individuals. Various mutations of Fibrillin 1 gene (FBN1) located in chromosome 15 are identified in 90 percent of patients with Marfan syndrome. Fibrillin-1 is the main constituent protein of extracellular microfibrils that contribute to formation and maintenance of elastic fibers.

There is wide range of clinical manifestations of Marfan syndrome. Skeletal features include arachnodactyly with positive thumb sign (the entire distal phalanx protrudes beyond the ulnar border of clenched fist) or wrist sign (the top of thumb covers entire nail of little finger when wrapped around the contralateral wrist), pectus deformity (crainatum more specific than excavatum), hindfoot valgus, abnormal arm span to height ratio, scoliosis or kyphosis. Ocular features include ectopia lentis (usually upward and temporal displacement), severe myopia (short-sightedness). These patients have increase tendency of developing lung emphysema and bullae which predispose to spontaneous pneumothorax.

Aortic disease is one of the cardinal features and major diagnostic criteria of Marfan syndrome (the other one is ectopia lentis according to the 2010 Revised Ghent nosology). Aortic aneurysm, aortic regurgitation and dissection are the main causes of morbidity and mortality of these patients. Most of the cases involve aortic root and ascending aorta. It is recommended that echocardiography should be performed at the time of diagnosis and six months later to determine the aortic root and ascending aorta diameter and rate of enlargement. CT and MRI may also be considered as initial workup for correlation and detection of coexisting diseases. Thereafter yearly imaging is recommended if aortic diameter is less than 45 mm, whereas more frequent monitoring is needed if the aortic diameter shows rapid change (>0.5 cm/year). Mitral valve prolapse is also commonly found in Marfan syndrome patients (up to 40-54 percent), but it is a non-specific feature. Majority of these patients have less than mild mitral regurgitation, and one fourth of them show progression over time. Thus cardiology referral is necessary in patients with Marfan syndrome for regular imaging and clinical monitoring.

References

  1. Hilhorst-Hofstee Y, Rijlaarsdam ME, Scholte AJ, et al. The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family. Hum Mutat 2010; 31:E1915.
  2. Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010; 47:476.
  3. Adams JN, Trent RJ. Aortic complications of Marfan's syndrome. Lancet 1998; 352:1722.
  4. Hiratzka LF, Bakris GL, Beckman JA, et al. 2010. ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation 2010; 121:e266.
  5. Rybczynski M, Mir TS, Sheikhzadeh S, et al. Frequency and age-related course of mitral valve dysfunction in the Marfan syndrome. Am J Cardiol 2010; 106:1048.
   
   

Dermatology Series 皮膚科病例研究

Dermatology Series for June 2016 is provided by:
Dr. CHAN Hau Ngai, Kingsley, Dr. TANG Yuk Ming, William, Dr. KWAN Chi Keung, Dr. LEUNG Wai Yiu and Dr. CHANG Mee, Mimi
Specialists in Dermatology & Venereology
六月皮膚科個案研究之內容承蒙陳厚毅醫生、鄧旭明醫生、關志強醫生、梁偉耀醫生張苗醫生提供。

A painful finger swelling

A 28-year-old lady with good past health complained of sudden painful right third finger swelling for one day which was worsening in nature. Physical examination showed tender periungual swelling over her right third finger associated with pustular discharge.

 

Answers

1. What is the diagnosis?
The diagnosis is acute paronychia. It is an acute inflammation of the nail and the nail fold usually due to bacterial infection for example staphylococcus aureus infection. Occasionally, it can also be caused by viral infection, like herpes simplex infection.
 

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2. What are the risk factors of this skin disease?
The risk factors of the acute paronychia include:
1. Frequent manicure
2. Application of artificial fingernail like gel nail
3. Habit of bitten the nail or picking the nailfold
4. Ingrowing finger nail
5. Medication including BRAF inhibitors (vemurafenib, dabrafenib)
 

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3. How do you diagnose this skin disease?
Acute paronychia can be diagnosed clinically. Swab over the nail fold for bacterial or viral culture can test what is the cause.
 

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4. What are the treatments?
It is important to educate the patient to avoid the possible aggravating factor and wear more moisturizer. Topical antibiotic cream and oral antibiotics are commonly used to treat acute paronychia. Oral and topical antiviral medications may be needed if the cause of acute paronychia is by herpes virus infection. If an abscess has developed, incision and drainage may be needed. Also surgical debridement may be required if fulminant infection is present.
 

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