HeartWare LVAD Implantation in a Patient with a Rare ARVD: Carvajal Syndrome

Abstract

Carvajal syndrome is a variant of Naxos disease characterized by a predominant left ventricular involvement, wooly or curly hair, and palmoplantar keratoderma or similar skin disorders. We describe the clinical and therapeutic course of a 14-year old boy affected by this syndrome, in whom a progressive biventricular failure developed at 13 years of age. The patient was hospitalized in the pediatric department 3 months earlier after the onset of cardiac arrhythmias and he critically worsened with signs and symptoms of biventricular cardiac failure. Over massive inotropic agent infusion, the patient was transferred to our intensive-care-unit in order to be haemodinamically stabilized with a ventricular assist device (VAD) and thereafter transplanted.

Keywords

Left ventricular assist device Carvajal syndrome ARVD

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References

Coonar

A.S.

, Protonotarios

, Tsatsopoulou

. Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. Circulation. 1998; 97(20): 2049–2058.

Protonotarios

, Tsatsopoulou

. Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Pathol. 2004; 13(4): 185–194.

Tiso

, Stephan

D.A.

, Nava

. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet. 2001; 10(3): 189–194.

Rampazzo

, Nava

, Malacrida

. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet. 2002; 71(5): 1200–1206.

Norgett

E.E.

, Hatsell

S.J.

, Carvajal-Huerta

. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet. 2000; 9(18): 2761–2766.

Corrado

, Fontaine

, Marcus

F.I.

. Study Group on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy of the Working Groups on Myocardial and Pericardial Disease and Arrhythmias of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the World Heart Federation. Arrhythmogenic right ventricular dysplasia/cardiomyopathy: need for an international registry. Circulation. 2000; 101(11): e101–e106.

Aaronson

K.D.

, Slaughter

M.S.

, Miller

L.W.

. HeartWare Ventricular Assist Device (HVAD) Bridge to Transplant ADVANCE Trial Investigators. Use of an intrapericardial, continuous-flow, centrifugal pump in patients awaiting heart transplantation. Circulation. 2012; 125(25): 3191–3200.