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Noonan syndrome and different morphologic expressions of hypertrophic cardiomyopathy

Efrén Martínez-Quintana1, Fayna Rodríguez-González, Paula Junquera-Rionda

  • 1Cardiology Service, Complejo Hospitalario Universitario Insular Materno Infantil, Avenida Marítima del Sur, s/n. 35016, Las Palmas de Gran Canaria, Spain, efrenmartinezquintana@yahoo.es.

Pediatric Cardiology
|July 14, 2012
PubMed

Insights

This case report highlights a rare subgroup of hypertrophic cardiomyopathy in a patient with Noonan syndrome. The findings emphasize the complex and heterogeneous nature of this cardiac disease.

Area of Science:

  • Cardiology
  • Genetics
  • Rare Diseases

Background:

  • Hypertrophic cardiomyopathy (HCM) is a complex cardiac condition with significant clinical heterogeneity.
  • A poorly understood subgroup of HCM involves ventricular diverticulum, myocardial bridging, and left ventricular crypts.

Observation:

  • This report details a case of Noonan syndrome.
  • The patient presented with four distinct HCM characteristics: ventricular diverticulum, coronary myocardial bridging, left ventricular crypts, and crevices.

Findings:

  • The co-occurrence of Noonan syndrome and this specific HCM subtype is documented.
  • This case illustrates the phenotypic variability within hypertrophic cardiomyopathy.

Implications:

  • Recognizing this HCM subgroup is crucial for accurate diagnosis and management.
  • Further research is needed to understand the genetic and pathophysiological links between Noonan syndrome and these cardiac anomalies.

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