CARDIOVASCULAR DISEASE AND SKINLEOPARD SYNDROME

Oleh:

Eka Prasepti Darusman, S.Ked

Pembimbing:

dr. Dwi L. Adiputro, Sp.JP

Mini Referat

Introduction

LEOPARD syndrome (LS)

dysmorphogenic and multisystem cardio-cutaneus syndromealso known as Cardiocutaneous syndrome, Gorlin syndrome II, Lentiginosis profusa syndrome, Progressive cardiomyopathic lentiginosis or Moynahan syndrome

Etiology and Epidemiology

LS is inherited in an autosomal dominant fashion, although it can also arise due to spontaneous mutation. A proband with LS may have the disorder as the result of a new gene mutation.

There is no epidemiologic data available, however there are slightly over 100 cases described in medical literature.

Pathophysiology

In the two predominant mutations syndrome (Y279C and T468M) the mutations cause a loss of catalytic activity of the SHP2 protein (the gene product of the PTPN11 gene), which is a previously unrecognized behavior for this class of mutations. This interferes with growth factor and related signalling.

Kim, Jihyun et al. LEOPARD syndrome with PTPN11 gene mutation showing six cardinal symptoms of LEOPARD. Ann Dermatol 2011 23 (2)

Signs and symtoms The name of the condition is

a mnemonic, originally coined in 1969, as the condition is characterized by some of the following seven conditions, along with the characteristic "freckling" of the skin, caused by the lentigines that is reminiscent of the large cat

Gorlin proposed the acronym LEOPARD

Lentigines

ECG abnormalities

Ocular hypertelorism

Pulmonary stenosis

Abnormal genitalia

Retardation of growth

Deafness

CVS - Hypertrophy, Atrial defects and Pulmonary valve stenosis.

Cont…

lentiginosis

LVH

LVH

ECG Abnormalities

12-lead ECG shown right-axis deviation, ST-segment abnormalities and T-wave inversion

Diagnosis The diagnosis of LS is

made on clinical grounds by observation of key features. PTPN11, RAF1, and BRAF are the genes known to be associated with LS.

PrognosisPrognosis In itself, most people

diagnosed with the condition live normal lives. Obstructive cardiomyopathy and other pathologic findings involving the cardiovascular system maybe a cause of death in those whose cardiac deformities are profound.

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