cardiomyopathy, familial hypertrophic, type 2

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cardiomyopathy, familial hypertrophic, type 2

A phenotypically variable hereditary heart disorder (OMIM:115195) characterised by asymmetic ventricular hypertrophy.

Clinical findings
Dyspnoea, syncope, collapse, palpitations, and chest pain triggered by exercise. The disorder has inter- and intrafamilial variability, ranging from benign and asymptomatic to malignant with high risk of cardiac failure and sudden cardiac death.
 
Molecular pathology
Caused by defects of TNNT2, which encodes type-2 troponin T, a subunit of the troponin complex that regulates muscle contraction in response to alterations in intracellular Ca2+ ion concentration.
References in periodicals archive ?
(a) Flow cytometric analysis showing CMH2 DCFDA fluorescence in HAECs treated with VEGF (10 ng/mL) without or with aspalatone (50 [micro]M) for 18 h (red: VEGF alone treated, pink: VEGF + aspalatone, green: control, and blue: aspalatone).
Dogs were allowed to breath spontaneously unless the end tidal carbon dioxide reached more than 45 mmHg; if that occurred, pressure-supported ventilation with a peak inspiratory pressure of 10 cmH2 Owas performed to maintain the end-tidal carbon dioxide lower than 50 mmHg.
Recently, the cTnT gene was located at the CMH2 locus on chromosome 1g32 (17, 25), and mutations in its sequence have been found to be associated with familial hypertropic cardiomyopathy (27, 28).