CASE PRESENTATION (CARDIOCUTANEOUS SYNDROME)

Presenter:

Dr. Md. Mamunuzzaman

(MD 3rd Part Student)

Moderator: Dr. A K M Monwarul Islam

Assistant Professor

NICVD

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

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.

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.

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.

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.

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.

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.

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.

OTHER SYSTEM EXAMINATION

Examination of other systems including respiratory system revealed no abnormality.

INVESTIGATION

CBC :

Hb – 10.8 gm/dl.

ESR – 18 mm in 1st hour.

TC – 4500/cu.mm

DC – N – 60%

L – 30%

INVESTIGATION CXR

INVESTIGATION (ECG)

INVESTIGATION (ECG)

INVESTIGATION

Echocardiogram( 19/9/12) :

Dilated cardiomyopathy

Severe LV systolic dysfunction(EF – 30%)

Restrictive LV diastolic dysfunction

Mildly impaired RV systolic function

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.

PROVISIONAL DIAGNOSIS

Cardiocutaneous Syndrome most likely

Carvajal Syndrome.

D/D : Naxos Syndrome.

Arsenicosis.

Points in favour of Carvajal Syndrome :

Wooly hair.

Palmoplanter keratoderma.

Dilated cardiomyopathy with

predominant involvement of left

ventricle.

Points in favour of Naxos Syndrome :

Wooly hair. Palmoplanter Keratoderma.

Point against Naxos Syndrome :

Dilated cardiomyopathy with predominant involvement of left ventricle.

Points in favour of Arsenicosis :

Palmoplanter keratoderma.

Dilated cardiomyopathy.

Point against Arsenicosis :

Wooly hair.

Absence of hyperpigmentation.

Use of tap water .

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.

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.

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.

THANK YOU