Hypertrophic Cardiomyopathy Registry, Biobank and Imaging Data Repository

Más betegség

• Clinical or molecular diagnosis of Noonan syndrome or other Rasopathies
• Clinical or molecular diagnosis of metabolic disease associated with cardiomyopathy, such as Pompe (GAA), Fabry (GLA), Danon (LAMP2), AMP-kinase (PRKAG2), and carnitine disorders
• Clinical diagnosis of a neuromuscular disease associated with cardiomyopathy, such as Friedrich's ataxia
• Clinical diagnosis of cardiac amyloidosis with or without the presence of genetic variants in TTR
• History of myocardial infarction
• History of moderate or severe aortic stenosis
• History of congenital heart defects requiring percutaneous or surgical correction
• History of severe hypertension defined as a systolic blood pressure >180 mmHg and/or diastolic blood pressure >110 mmHg AND absence of pathogenic or likely pathogenic variant in a sarcomeric gene (as defined in inclusion criterion 1B above)
• No possibility to upload transthoracic echocardiogram or cardiac magnetic resonance imaging for core lab interpretation

Életkor

• Diagnosis of HCM >65 years old AND absence of pathogenic or likely pathogenic variant in a sarcomeric gene (as defined in inclusion criterion 1B above)

Egyéb

• Clinical or molecular diagnosis of mitochondrial cardiomyopathy
• Refusal to provide informed consent or to provide a biospecimen for DNA analysis

• Patients with (1) AND/OR (2)
• Clinical diagnosis of HCM, defined as
  • maximal LVWT ≥15mm, or
  • maximal LVWT ≥13mm, in presence of a diagnosis of first degree relative with HCM, or
  • septal wall thickness with z-score >2 in a child
  • AND/OR
• Carrier of a pathogenic or likely pathogenic genetic variant in a sarcomeric gene (ACTC1, FHOD3, MYBPC3, MYH7, MYL2, MYL3, TNNI3, TNNT2, TPM1). Variant classification should be performed by a certified diagnostic laboratory according to the American College of Medical Genetics and Genomics (ACMG) guidelines.