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"Cardiac incidentaloma": Left ventricular non-compaction in a kindred with familial coronary artery disease

D Bortolo Martini, Claudio Sperotto, Li Zhang

    Cardiology Journal
    |July 25, 2008
    PubMed

    Insights

    Genetics may link familial coronary artery disease (CAD) and left ventricular non-compaction (LVNC). This study identified a family with both conditions, showing varied disease severity and suggesting a potential genetic connection requiring further research.

    Area of Science:

    • Cardiology
    • Genetics
    • Echocardiography

    Background:

    • Cardiovascular diseases (CVDs) often have a genetic basis.
    • Left ventricular non-compaction (LVNC) is a rare cardiomyopathy.
    • Familial inheritance patterns of CVDs are increasingly recognized.

    Purpose of the Study:

    • To report a newly identified family exhibiting both familial coronary artery disease (CAD) and left ventricular non-compaction (LVNC).
    • To investigate the potential genetic link between CAD and LVNC within this kindred.

    Main Methods:

    • Case report of a 52-year-old male with acute coronary syndrome and incidentally found LVNC.
    • Two-dimensional echocardiography to assess left ventricular structure.
    • Detailed family history collection, including affected relatives and cardiac conditions.

    Main Results:

    • The index patient presented with acute coronary syndrome and significant LVNC.
    • His brother also had LVNC, albeit less severe.
    • Parents had severe CAD, and the mother exhibited specific left ventricular apex abnormalities.

    Conclusions:

    • LVNC was incidentally identified in a family with a history of familial CAD.
    • The study highlights variable expressivity of LVNC within the family.
    • A potential genetic link between familial CAD and LVNC warrants further investigation.

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