title: [Diagnosis of nonobstructive hypertrophic cardiomyopathy in a patient with Down's syndrome].
abstract: This report describes the case of a patient with nonobstructed hypertrophic cardiomyopathy and Down's syndrome (47,XY, +21) in a 31 year old patient. Diagnosis of hypertrophic cardiomyopathy was made subsequently to ECG and two dimensional echocardiography findings. Personal and familial anamnesis and physical examination were negative. Standard ECG revealed signs of left ventricular enlargement and secondary alterations of repolarization (negative and giant T waves in DI-DII-V3-V4-V5-V6). Two dimensional and Doppler echocardiography disclosed left ventricular walls hypertrophy, particularly of the ventricular septum, of apex, lateral and inferior walls with normal systolic and diastolic function's index. Any intracavitary gradients were sound and Holter ECG monitoring repeated three times, revealed normal cardiac findings. In the literature this association was never described. We can't claim familial genesis of hypertrophic cardiomyopathy because parents and brothers didn't present any cardiopathy. It's important to mark that anatomic alterations functional features didn't correspond in our case, as demonstrated by clinical and echo-Doppler findings.
authors.affiliation: Servizio di Cardiologia, IRCCS Oasi Maria SS., Troina, EN.
authors.forename: V E
authors.initials: VE
authors.lastname: Rubino
authors.forename: A
authors.initials: A
authors.lastname: Puzzo
authors.forename: G
authors.initials: G
authors.lastname: Busacca
authors.forename: G
authors.initials: G
authors.lastname: Fiamma
authors.forename: L
authors.initials: L
authors.lastname: Russo
authors.forename: F S
authors.initials: FS
authors.lastname: Feruglio
mesh_terms: D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications / Q000175:diagnosis*; D004314:Down Syndrome / Q000150:complications*; D004452:Echocardiography; D015150:Echocardiography, Doppler; D004562:Electrocardiography; D006801:Humans; D008297:Male