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[Diagnosis of nonobstructive hypertrophic cardiomyopathy in a patient with Down's syndrome]
V E Rubino1, A Puzzo, G Busacca
1Servizio di Cardiologia, IRCCS Oasi Maria SS., Troina, EN.
Insights
This case report details a 31-year-old male with Down syndrome and nonobstructed hypertrophic cardiomyopathy. This rare association, identified via ECG and echocardiography, showed normal cardiac function despite significant ventricular hypertrophy.
Area of Science:
- Cardiology
- Genetics
- Clinical Medicine
Background:
- Down syndrome (47,XY,+21) is a genetic disorder with various associated health conditions.
- Hypertrophic cardiomyopathy (HCM) is a cardiac condition characterized by thickening of the heart muscle.
- The co-occurrence of Down syndrome and nonobstructed HCM is exceptionally rare and has not been previously documented.
Observation:
- A 31-year-old male patient with Down syndrome presented with findings suggestive of hypertrophic cardiomyopathy.
- Electrocardiogram (ECG) revealed left ventricular enlargement and repolarization abnormalities.
- Two-dimensional and Doppler echocardiography confirmed significant left ventricular hypertrophy, particularly of the septum, apex, lateral, and inferior walls, with preserved systolic and diastolic function.
Findings:
- The patient exhibited nonobstructed hypertrophic cardiomyopathy.
- No intracavitary gradients were detected.
- Serial Holter ECG monitoring showed normal cardiac rhythm and activity.
- Personal and familial history revealed no prior cardiac abnormalities.
Implications:
- This case highlights a previously undescribed association between Down syndrome and hypertrophic cardiomyopathy.
- The findings suggest that genetic factors in Down syndrome may play a role in cardiac morphology, even without functional impairment.
- Further research is warranted to understand the underlying mechanisms and potential long-term implications of this rare comorbidity.
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.