1. CASE PRESENTATION
(CARDIOCUTANEOUS SYNDROME)
Presenter:
Dr. Md. Mamunuzzaman
(MD 3rd Part Student)
Moderator:
Dr. A K M Monwarul Islam
Assistant Professor
NICVD

2. PARTICULARS OF THE PATIENT
 Name: Amullanath Talukdar
 Age : 64 years.
 Address : Block-G, Lalmatia, Dhaka.
 D/O Admission : 10/1/2013
 D/O Examination : 20/9/2012

3. CHIEF COMPLAINTS
 Gradual swelling of left upper limb and left
upper part of chest for 15 days.
 H/O PPM implantation for 2 months in left
upper chest.

4. H/O PRESENT ILLNESS
According to the statement of patient’s, he was
reasonably well 7 months back. Then he developed non
verigo,………….., painless thickening of skin of palm of
the hands and sole of the feet.With this promlems he was
admitted to NICVD, and then diagnosed as a case of
sick sinus syndrome and treated by permanent pace
maker implantation. Afte proper post invasive
care, patient was discharged with advice.But since
Initially it was mild but this increased in severity
progressively to such a level that for last two years he
felt difficulty during writing, walking or taking food.

5. H/O PRESENT ILLNESS(CONTD.)
 For last two years, he also developed difficulty in
breathing following exertion. Initially, it occurred only
following severe exertion but gradually increased in
severity and now he becomes breathless after mild to
moderate exertion and he left school for last 6 months
due to exertional breathlessness.
 Breathlessness was associated with occasional
nonproductive cough, but not associated with repeated
chest infection. There was no seasonal variation and
breathlessness was absent in lying posture.

6. H/O PRESENT ILLNESS(CONTD.)
 There was no antecedent h/o fever, joint swelling, joint
pain.
 With these complaints, he consulted with Skin specialists
and Paediatric consultants locally and in tertiary care
hospitals several times and received different forms of
treatments without significant improvement.

7.  H/O Past Illness : Nothing significant.
 Treatment History : Patient used different types of ointment
and also had laser therapy for treatment of skin thickening.
 Family History : There is history of consanguinity between his
parents. He has two brothers and one sister. All his family
members are healthy and alive.
 Socioeconomic history : Patient belongs to a poor family. They
live in tin-shed home and drink tap water.

8. GENERAL EXAMINATION
 Patient was ill looking, anxious.
 Body built : average.
 Nutrition : bellow average.
 Decubitus : on choice
 Pulse : 88/min, regular.
 Resp. rate : 24breaths/min
 Anaemia, jaundice, cyanosis, clubbing, edema : absent
 JVP : not raised
 Wooly, sparse scalp hair
 Dry, rough, fissured, thickened skin over palm of the hand and
sole of the foot.

9. CVS EXAMINATION
 Pulse : 88/min (reg), normal in volume and character, no
radiofemoral or radioradial delay.
 JVP : not raised.
 Precordial Examination :
Apex beat – located in left 6th ICS lateral to
midclavicular line. Normal in character.
Parasternal heave and Palpable P2 – absent.
1st heart sound was soft and 2nd heart sound was
normal. There was pansystolic murmur over mitral area of
grade 2/6 with radiation towards axilla.

10. OTHER SYSTEM EXAMINATION
Examination of other systems including
respiratory system revealed no abnormality.

11. INVESTIGATION
 CBC :
Hb – 10.8 gm/dl.
ESR – 18 mm in 1st hour.
TC – 4500/cu.mm
DC – N – 60%
L – 30%

12. INVESTIGATION
 CXR

13. INVESTIGATION (ECG)

14. INVESTIGATION (ECG)

15. INVESTIGATION
 Echocardiogram( 19/9/12) :
Dilated cardiomyopathy
Severe LV systolic dysfunction(EF – 30%)
Restrictive LV diastolic dysfunction
Mildly impaired RV systolic function

21. INVESTIGATION
 Skin Biopsy from palm of right hand(27/9/12) :
Section show skin tissue composed of
mostly thick hyperkeratotic layer and mild
elongation of rete ridges. Dermis shows
perivascular infiltration of chronic inflammatory
cells.
Features compatible with keratoderma.

26. PROVISIONAL DIAGNOSIS
Cardiocutaneous Syndrome most likely
Carvajal Syndrome.
D/D : Naxos Syndrome.
Arsenicosis.

27.  Points in favour of Carvajal Syndrome :
Wooly hair.
Palmoplanter keratoderma.
Dilated cardiomyopathy with predominant
involvement of left ventricle.

28.  Points in favour of Naxos Syndrome :
Wooly hair.
Palmoplanter Keratoderma.
 Point against Naxos Syndrome :
Dilated cardiomyopathy with
predominant involvement of left ventricle.

29.  Points in favour of Arsenicosis :
Palmoplanter keratoderma.
Dilated cardiomyopathy.
 Point against Arsenicosis :
Wooly hair.
Absence of hyperpigmentation.
Use of tap water .

30. CARVAJAL SYNDROME
 This is a Familial Cardiocutaneous syndrome.
 Autosomal Recessive inheritance.
 Typical features are Wooly hair, Palmoplanter keratoderma
and dilated cardiomyopathy mainly involving left ventricle.
 First described by Dr. Luis Carvajal.
 This is caused by missense mutation of Desmoplakin gene
which is an intracellular protein that links desmosomal adhesion
molecules to intermediate filaments of cytoskeleton.
 Altered protein- protein interactions at intercalated disks cause
both contractile and electrical cardiac dysfunction.

33. CARVAJAL SYNDROME
 Patient may present with syncope, congestive cardiac
failure or sudden death.
 Left ventricle is involved in 90% of patients in the second
decade of life and 57% of patients develop heart failure
and most die during adolescence.
 Microscopically, extensive myocardial loss, fibrosis in left
ventricle and diffuse scarring of free walls of left and
right ventricle is seen, but fatty infiltration of right or left
ventricular wall is not detected in contrast to ARVC.

34. CARVAJAL SYNDROME
 In Immunohistochemical analysis, Desmoplakin is
undetectable at intercellular junction.
 Abnormalities in the cell to cell junctions seem to disrupt
tissue integrity and cause keratoderma in
skin, replacement of fibro fatty tissue in myocardium and
cause clinically apparent electrical dysfunction as
arrhythmias and contractile dysfunction as heart failure.

35. THANK YOU