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

Claudia Stöllberger1, Ali Hamedanchi, Josef Finsterer

  • 12nd Medical dept., Krankenanstalt Rudolfstiftung, Mashhad, Iran. claudia.stoellberger@chello.at

Acta Cardiologica
|March 26, 2009
PubMed

Insights

Familial left ventricular hypertrabeculation/noncompaction (LVHT) presents a spectrum, sometimes alongside hypertrophic cardiomyopathy and neuromuscular disorders. Early detection of LVHT is crucial for managing associated cardiac and neurological conditions.

Area of Science:

  • Cardiology
  • Genetics
  • Neurology

Background:

  • Familial occurrence of left ventricular hypertrabeculation/noncompaction (LVHT) exhibits a wide spectrum.
  • Detecting asymptomatic LVHT poses challenges due to diagnostic criteria and prognosis concerns.

Observation:

  • Three brothers presented with varying cardiac conditions: heart failure with LVHT, apical hypertrophic cardiomyopathy, and asymptomatic LVHT.
  • Two brothers had childhood muscle weakness, and the third showed lower limb weakness, suggesting a shared neuromuscular disorder.

Findings:

  • Apical hypertrophic cardiomyopathy can co-occur with LVHT within families, potentially representing a milder form of LVHT.
  • Familial LVHT is associated with neuromuscular disorders, indicating cardiac manifestations of underlying neurological conditions.

Implications:

  • This familial clustering highlights the genetic and syndromic nature of LVHT.
  • Recognizing the link between LVHT, hypertrophic cardiomyopathy, and neuromuscular disorders is vital for comprehensive patient management and diagnosis.
Abstract

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