From HPO
Sudden cardiac death- MedGen UID:
- 38841
- •Concept ID:
- C0085298
- •
- Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
Left ventricular outflow tract obstruction- MedGen UID:
- 6031
- •Concept ID:
- C0023213
- •
- Disease or Syndrome
Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle.
Mitral regurgitation- MedGen UID:
- 7670
- •Concept ID:
- C0026266
- •
- Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Palpitations- MedGen UID:
- 14579
- •Concept ID:
- C0030252
- •
- Finding
A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.
Asymmetric septal hypertrophy- MedGen UID:
- 104705
- •Concept ID:
- C0205700
- •
- Disease or Syndrome
Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.
Systolic anterior motion of the mitral valve- MedGen UID:
- 1664719
- •Concept ID:
- C4049276
- •
- Finding
Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole.
Reduced left ventricular endsystolic diameter- MedGen UID:
- 1815109
- •Concept ID:
- C5706203
- •
- Finding
A lower than normal left ventricular endsystolic diameter.
Increased myocardial glycogen content- MedGen UID:
- 1841883
- •Concept ID:
- C5826455
- •
- Finding
Elevated amount of glycogen in the myocardium.
Muscle weakness- MedGen UID:
- 57735
- •Concept ID:
- C0151786
- •
- Finding
Reduced strength of muscles.
Dyspnea- MedGen UID:
- 3938
- •Concept ID:
- C0013404
- •
- Sign or Symptom
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
Cardiomyocyte hypertrophy- MedGen UID:
- 909741
- •Concept ID:
- C4227331
- •
- Finding
An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes.
- Abnormal cellular phenotype
- Abnormality of the cardiovascular system
- Abnormality of the musculoskeletal system
- Abnormality of the respiratory system
- Constitutional symptom