8546 The Treatment of Primary Aldosteronism Complicated By Severe Heart Failure: A case Of A Young Male Patient With Primary Aldosteronism And X-linked DMD-Associated Dilated Cardiomyopathy Genotype
Authors: Song Xiaoxiao , Qian Siwei , Jia Minyue , Yu Hanxiao 
Published: October 2024

Disclosure: X. Song: None. S. Qian: None. M. Jia: None. H. Yu: None.

Background: Heart failure (HF) is traditionally considered as one of the cardiovascular complications in primary aldosteronism (PA) with an estimated prevalence between 0.6-4.1%. But there are few reported cases of PA complicated by early onset heart failure with reduced ejection fraction (HFrEF). Here we reported a case of a young male patient with PA and X-linked DMD-associated dilated cardiomyopathy genotype and phenotype. Clinical Case: A 39-year-old male was referred for tightness in the chest and nighttime worsening dyspnea for more than 4 months. He had a 7-year medical history of uncontrolled hypertension and severe hypokalemia. At admission, vital signs revealed a blood pressure of 160/121 mmHg. Laboratory analysis showed elevated Pro-BNP (7297 pg/mL; &lt; 125 pg/mL) .Echocardiography demonstrated diffuse hypokinetic wall motion with a decrease of EF:18.3% and an increase of LVIDd: 62mm( &lt;54mm). Excluding coronary heart disease, Primary aldosteronism was suspected based on severe hypokalemia ( 2.57 mmol/L; &gt;3.5mmol/L ) and high aldosterone-to-renin ratio with extremely elevated plasma aldosterone concentration (PAC): 6420.0 pg/mL(&lt; 353.0 pg/mL). The diagnosis of PA was confirmed by the Captopril challenge test. Computed tomography revealed the presence of a single right adrenal nodule (23 mm × 16 mm), and adrenal vein sampling (AVS) also indicated right-side gradient(&gt;4:1).Laparoscopy adrenalectomy was performed following the standardized treatment of HF. Histopathology revealed right APA and Immunostaining showed positive CYP11B2. Plasma potassium and PAC levels as well as ARR were normal immediately after surgery, facilitating easy control of blood pressure and heart failure. At the 8-month follow-up, the EF and LVIDd were restored to 45% and 54mm, respectively and pro-BNP was normal. BP was 120/80 mmHg with ARNI (angiotensin receptor/neprilysin inhibitor) and Metoprolol. Finally, the patient achieved biochemical and clinical remission of both PA and HF.We next did the whole genome sequencing to identify potential genetic reason for early onset of severe HFrEF and non-complete recovery of EF after treatment on this patient. It revealed a missense mutation located in DMD(NM_004006.3) gene Exon 29, i.e., c.4030C&gt;T, p.Leu1344Phe. Bioinformatics analysis demonstrate this mutation affects the protein function and is related to X-linked DMD-Associated Dilated Cardiomyopathy. Further Sanger sequencing for the whole family verified the hemizygous status of this male proband. Conclusions: This case demonstrates the toxic and reversible effects of excess aldosterone on the heart, and also highlights the importance of early awareness of potential genetic disorder in PA patients with early-onset of HF instead of assuming HF is just the secondary result to PA.

Presentation: 6/1/2024