Key result
Whole Exome Sequencing identified a suspected pathogenic TTN gene mutation in a 65-year-old male with hypertrophic cardiomyopathy and secondary hypertension due to primary aldosteronism.
Why the study?
There have been limited reports on the diagnosis and subsequent systematic therapy of hypertrophic cardiomyopathy accompanied by secondary hypertension.
Case Report (n=1)
This case highlights the rare co-occurrence of hypertrophic cardiomyopathy and primary aldosteronism, emphasizing the importance of comprehensive diagnostic evaluation in patients with refractory hypertension and cardiac hypertrophy.
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.
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Tang et al. (2023) conducted a case report in Hypertrophic cardiomyopathy and secondary hypertension (n=1). Whole Exome Sequencing identified a suspected pathogenic TTN gene mutation in a 65-year-old male with hypertrophic cardiomyopathy and secondary hypertension due to primary aldosteronism.
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