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Myopathy, apical hypertrophic cardiomyopathy and left ventricular noncompaction within the same family

Objective — Familial occurrence of left ventricular hypertrabeculation/noncompaction (LVHT) comprises a wide spectrum. Detection of asymptomatic LVHT is a challenge, since the assumed poor prognosis of LVHT may induce anxiety and over-reaction.The different echocardiographic diagnostic criteria render the situation still more difficult. Methods and results — Among 3 brothers, the 24-year-old index patient suffered from heart failure. He fulfilled both echocardiographic criteria for LVHT. The 35-year-old brother suffered from palpitations and showed echocardiographically an apical-type hypertrophic cardiomyopathy.The 17-year-old asymptomatic brother showed LVHT fulfilling only one echocardiographic criterion.Two brothers suffered from muscle weakness since childhood, the third was investigated neurologically and showed weakness of the lower limbs. Most likely, the 3 brothers suffered from the same neuromuscular disorder. Conclusion — Apical-type hypertrophic cardiomyopathy may occur together with LVHT in the same family and may represent an abortive form of LVHT. Neuromuscular disorders are associated with familial LVHT, thus representing cardiac involvement of the underlying neurological disease.