Abstract
Hypertrophic cardiomyopathy (HCM) is a prevalent genetic cardiac
condition, known to be the most common. However, there have been limited
reports on the diagnosis of HCM accompanied by secondary hypertension
and the subsequent systematic therapy. In this case report, we present
the case of a 65-year-old male patient who presented with recurring
chest discomfort during physical activity, along with refractory
hypertension. Cardiac Magnetic Resonance Imaging and transthoracic
echocardiogram revealed the presence of HCM in this individual. Further
investigation revealed hypokalemia, elevated aldosterone levels,
decreased plasma renin activity, and an aldosterone-to-renin ratio above
30. These findings strongly indicated primary aldosteronism (PA) as an
additional condition affecting this patient.
Through the utilization of Whole Exome Sequencing, we successfully
identified a suspected pathogenic gene TTN as the underlying cause of
the patient’s condition. The presence of hypertrophic cardiomyopathy
(HCM) accompanied by secondary hypertension due to primary aldosteronism
(PA) resulted in significant enlargement of the left ventricle,
particularly the ventricular septum. While certain genetic mutations may
suggest a potential link to cardiomyopathy development, they cannot
definitively establish a direct association between HCM and PA.
Key word : Hypertrophic cardiomyopathy, TTN gene, Primary
aldosteronism