Asymptomatic noncompaction myocardium and familial probable partial penetrant disease

International Journal of Cardiology
Pedro Betrián Blasco, Jorge Lopez Ayerbe

Abstract

Isolated noncompaction of the ventricular myocardium is thought to be caused by arrest of normal embryogenesis of the endocardium and myocardium. Clinical manifestations are highly variable, from no symptoms to congestive heart failure, arrhythmias, and systemic thromboemboli. Both familial and sporadic forms have been described, and mutations of certain genes have been related with this entity. Partial penetration of the disease is reported. We report an asymptomatic infant accomplishing the echocardiographic criteria, and his mother, showing prominent trabeculations and recesses, but not fulfilling all the diagnosis criteria.

References

Jun 3, 2004·Circulation·Sabine Sasse-KlaassenLudwig Thierfelder
Jun 24, 2004·Circulation·Brian C WeifordKevin M Mulhern
Oct 2, 2004·International Journal of Cardiology·Dursun Alehan
Nov 13, 2004·Cardiology·Claudia Stöllberger, Josef Finsterer

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Citations

Jul 27, 2011·International Journal of Cardiology·Josef FinstererErnst Sehnal
Oct 28, 2006·International Journal of Cardiology·Pedro Betrián Blasco, Elena Gallardo Agromayor
Nov 25, 2006·International Journal of Cardiology·Charalambos VlachopoulosChristodoulos Stefanadis

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