Noonan's cardiomyopathy: a non-hypertrophic variant.
OBJECTIVE
To describe the association of the Noonan's phenotype and a primary, familial non-hypertrophic cardiomyopathy with restrictive pathophysiology.


METHODS
Observational study.


METHODS
Tertiary cardiac referral centre.


METHODS
Affected family members.


METHODS
Two generations of a single family were examined and a description of the clinical characteristics and electrocardiographic, echocardiographic, and haemodynamic data of those affected is given.


RESULTS
Three family members have classic Noonan's phenotype and all have a non-dilated, non-hypertrophic cardiomyopathy. Inheritance is autosomal dominant but with variable penetrance. The electrocardiograms show increased left ventricular voltages in two patients. On echocardiography left ventricular wall and internal end diastolic dimensions are normal, and there is considerable bilateral atrial enlargement. Systolic function is moderately impaired in one patient and mildly impaired in another. Doppler echocardiography showed restrictive pathophysiology as an early end of left ventricular filling and considerable reversal of flow in the superior vena cava during atrial systole.


CONCLUSIONS
Hypertrophic cardiomyopathy is well described in Noonan's syndrome. This is the first report of a non-hypertrophic cardiomyopathy with echocardiographic and haemodynamic features of restrictive pathophysiology.
Cooke
R A
RA
Department of Cardiology, Guy's Hospital, London.
Chambers
J B
JB
Curry
P V
PV
D000328:Adult; D002313:Cardiomyopathy, Restrictive / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D004452:Echocardiography; D004562:Electrocardiography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009634:Noonan Syndrome / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D010375:Pedigree