Cardiac involvement in Coffin-Lowry syndrome

Abstract

Coffin-Lowry syndrome is an X-linked recessive syndrome of mental retardation, characteristic facies and skeletal anomalies. In one patient with the syndrome, we observed early recurrent episodes of congestive heart failure with intercurrent normalization and the late development of mitral insufficiency due to annular dilation and congenital abnormalities of the valve apparatus. This unusual course of cardiac involvement, the non-adaptation of the left ventricular contractility to the aggravation of the mitral insufficiency and the postoperative persistence of the ventricular dysfunction, underline the possible role of an associated primary myocardial disease. This clinical observation demonstrates clearly that a mitral valve malformation can occur in patients with the syndrome, but also the role of a dilated cardiomyopathy, which can be secondary to the mitral regurgitation, but is more likely a myocardial disorder occurring as part of the syndrome.

Ocular surgery in a child with Coffin Lowry syndrome: Anesthetic concerns

“…Mitral valve disease with associated cardiomyopathy is known in this syndrome,[13] making echocardiography evaluation mandatory. Patients should be medically optimized on diuretics and digoxin.…”

Síndrome de Coffin-Lowry

“…Existen otras manifestaciones menores como: alteraciones auditivas de tipo neurosensorial, las cuales suelen ser de carácter progresivo; trastornos convulsivos; trastornos psiquiátricos, como psicosis con componente depresivo; episodios de caídas, y mielopatías [6,7,10,11]. También, se presentan alteraciones cardiacas como valvulopatías, especialmente de la válvula mitral, y miocardiopatías [13].…”

A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome

“…There are scanty reports mentioning various cardiac problems, namely, mitral valve regurgitation, heart murmur, myocardiopathy, and endomyocardial fibroelastosis [8,16,23,28,37,39,46,54]. Furthermore, there are some reports of ''sudden death'' without precision.…”