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| CASE REPORT |
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| Year : 2013 | Volume
: 1
| Issue : 1 | Page : 48-49 |
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Carvajal syndrome: A variant of Naxos disease in two Saudi siblings
Yusuf Parvez1, Abdul Aziz Al-Hassan2
1 Al-Jahra Hospital, Kuwait
2 Domat-Al Jandal Hospital, Al-Jouf, Kingdom of Saudi Arabia
| Date of Web Publication | 30-Dec-2013 |
Correspondence Address:
Yusuf Parvez
Dubai Hospital, P.O. Box 7272, Dubai, UAE
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/2348-0149.123964
Naxos disease is a recessively inherited condition characterized by woolly hair, palmoplantar keratosis and arrhythmogenic right ventricular cardiomyopathy. A variant of this predominantly involving left ventricle has been termed as Carvajal Syndrome. We report two cases in a Saudi family admitted in our Pediatric Intensive Care Unit. Keywords: Cardiomyopathy, carvajal syndrome, naxos disease
How to cite this article:
Parvez Y, Al-Hassan AA. Carvajal syndrome: A variant of Naxos disease in two Saudi siblings. Niger J Exp Clin Biosci 2013;1:48-9 |
| Introduction | |  |
Carvajal syndrome also known as "striate" palmoplantar keratoderma with woolly hair and cardiomyopathy is a cutaneous condition inherited in an autosomal recessive pattern due to a defect in desmoplakin (DSP) gene. The skin disease presents as a striate palmoplantar keratoderma particularly at sites of pressure. Patient is at risk of sudden cardiac death due to dilated cardiomyopathy associated with this entity. We report two cases in a Saudi family admitted in our Pediatric Intensive Care Unit (PICU) to highlight the importance of this syndrome.
| Case Reports | | |
Case 1
A 10-year-old Saudi girl presented with cough, breathlessness and easy fatigueability of 3 days duration. On general examination, she had fine, britlle, lustreless scalp hair; pallor; stomatitis, keratotic skin over palm, sole and lower half of both lower limbs [Figure 1] and [Figure 2]. She had tachycardia with heart rate of 142/min; respiratory rate of 40/min; blood pressure-80/60 mmHg, SpO 2 72% in room air; systemic examination revealed diastolic murmur grade 3/6 over mitral, tricuspid area; raised jugular venous pressure with bilateral basal crepitations. There was tender hepatomegaly (5 cm) with liver span-10.8 cm, with positive hepatojugular reflex. Central nervous system was apparently normal. X-ray chest showed-cardiomegaly with pulmonary plethora. Blood investigation revealed-creatine kinase-1122 u/l; creatine kinase muscle brain-45.9 u/l; lactate dehydrogenase-319 u/l. Arterial blood gas showed hypoxemia with metabolic acidosis. Electrocardiogram findings were suggestive of biventricular hypertrophy. Two-dimensional echocardiogram showed-dilated left ventricular (51 mm), dilated right ventricular + right atrial; mild mitral as well as tricuspid regurgitation; pulmonary hypertension (55 mmHg); ejection fraction-39%. Patient was admitted in our PICU and was managed as a case of heart failure and was investigated for the association of her dermatologic manifestations with cardiomyopathy. The genetic study by deoxyribonucleic acid polymerase chain reaction revealed missense mutation in DSPs gene. Skin biopsy of the lesion couldn't be done as the parents didn't give consent for further investigations. The child stayed for 5 days in PICU and succumbed to death despite adequate measures for heart failure.
Case 2
The elder brother (12 year age) of the index case was admitted 1 month later with similar manifestations of skin and presented as a case of heart failure. He expired within 2 days of admission in our PICU. His genetic study showed the similar result of missense mutation in DSP gene.
| Discussion | | |
Naxos disease was first described by Protonotarios and Tsatsopoulou in families originating from the Greek island of Naxos. [1] It is caused by a recessive mutation in DSP, which maps to 17q21 gene, an intracellular protein that links desmosomal adhesion molecules to intermediate filaments of the cytoskeleton. Patient usually presents with Woolly hair since birth; palmoplantar keratosis develops during the first year of life and cardiomyopathy (right ventricular) in adolescence. [1],[2],[3],[4] A particular mutation that truncates the intermediate filament-binding site of DSP results in a variant of Naxos disease with predominantly left ventricular involvement, early morbidity and clinical overlapping with dilated cardiomyopathy has been described by Kaplan et al. from Ecuador as Carvajal Sydrome. [5] It is a progressive heart disease and may cause sudden death in a child with early age. Whenever a child presents with such a dermatological manifestation, the pediatric cardiologist's consultation must be done at earliest possible. The primary goal of the management is to prevent sudden cardiac death. Implantation of automatic cardioverter defibrillator, antiarrhythmic drugs and management of heart failure are the recommended treatment modalities. [6] The population at risk should be genetically screened.
| References | | |
| 1. | Protonotarios N, Tsatsopoulou A. Naxos disease and Carvajal syndrome: Cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Pathol 2004;13:185-94. 
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| 2. | Peirone A, Bruno E, Rossi N, Alday LE. Woolly hair and palmoplantar hyperkeratosis may present with hypertrophic cardiomyopathy. Pediatr Cardiol 2005;26:470-2.
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| 3. | Krishnamurthy S, Adhisivam B, Hamilton RM, Baskin B, Biswal N, Kumar M. Arrhythmogenic dilated cardiomyopathy due to a novel mutation in the desmoplakin gene. Indian J Pediatr 2011;78:866-9.
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| 4. | Rai R, Ramachandran B, Sundaram VS, Rajendren G, Srinivas CR. Naxos disease: A rare occurrence of cardiomyopathy with woolly hair and palmoplantar keratoderma. Indian J Dermatol Venereol Leprol 2008;74:50-2.
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| 5. | Kaplan SR, Gard JJ, Carvajal-Huerta L, Ruiz-Cabezas JC, Thiene G, Saffitz JE. Structural and molecular pathology of the heart in Carvajal syndrome. Cardiovasc Pathol 2004;13:26-32.
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| 6. | Corrado D, Leoni L, Link MS, Della Bella P, Gaita F, Curnis A, et al. Implantable cardioverter-defibrillator therapy for prevention of sudden death in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation 2003;108:3084-91.'
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[Figure 1], [Figure 2]
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