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CLINICAL STUDY: CARDIOMYOPATHY

Periodic rescreening is indicated for family members at risk of developing familial dilated cardiomyopathy

^* Department of Medicine/Cardiology, Oregon Health and Science University, Portland, Oregon, USA

Manuscript received September 6, 2001; revised manuscript received January 31, 2002, accepted February 6, 2002.

^* Reprint requests and correspondence: Dr. Ray E. Hershberger, Department of Medicine/Cardiology, UHN-62, Oregon Health and Science University, 3181 SW Sam Jackson Park Road, Portland, Oregon USA97201.
hershber{at}ohsu.edu

OBJECTIVES: This study evaluated the role of clinical rescreening of family members at risk for familial dilated cardiomyopathy (FDC).

BACKGROUND: Familial dilated cardiomyopathy is a genetic cardiomyopathy that usually is transmitted in an autosomal dominant pattern and may underlie from one-quarter to one-half of idiopathic dilated cardiomyopathy (IDC) diagnoses. Thus, FDC may present with advanced heart failure (HF) or sudden cardiac death (SCD). Because FDC may respond to medical intervention, we have previously recommended that screening of first-degree relatives (parents, siblings, children) of patients diagnosed with IDC be undertaken to rule out FDC, and that with a diagnosis of FDC in the kindred, unaffected but at-risk family members be rescreened every three to five years.

METHODS: Follow-up screening (history, examination, electrocardiogram, echocardiography) of a large family with FDC was performed six years after initial screening.

RESULTS: Of 68 family members who underwent rescreening, two (one with left ventricular enlargement only, one with a left bundle branch block) presented with advanced HF and SCD, respectively. Two additional subjects, asymptomatic at initial screening, were also affected with FDC at follow-up.

CONCLUSIONS: Considerable vigilance for disease presentation and progression is indicated in at-risk members of a kindred with FDC, especially those with incipient FDC.

Abbreviations and Acronyms   ACE   angiotensin-converting enzyme   AD   autosomal dominant   DCM   dilated cardiomyopathy   ECG   electrocardiogram   FDC   familial dilated cardiomyopathy   HF   heart failure   IDC   idiopathic dilated cardiomyopathy   LBBB   left bundle branch block   LVE   left ventricular enlargement   LVEDD   left ventricular end-diastolic dimension   LVEF   left ventricular ejection fraction   NYHA   New York Heart Association   SCD   sudden cardiac death

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