Comprehensive Case Analysis of Primary Pulmonary Hypertension in a Middle-Aged Male: Clinical Evaluation, Genetic Screening, and Management Strategy

Dr. Arulanandhan Ettiyan

Abstract: This case offers a striking example of how primary pulmonary hypertension (PPH) can present subtly yet demand a multi-layered diagnostic and therapeutic approach. A 40-year-old male, euglycemic, normotensive, and without a history of smoking or asthma, reported a month-long history of dyspnea on exertion without associated palpitations, syncope, or orthopnea. It is evident that the absence of common cardiovascular red flags initially could mask the seriousness of the underlying pathology. Clinical evaluation and imaging revealed right atrial and ventricular dilation, moderate pulmonary arterial hypertension, and preserved left ventricular function, with no evidence of shunting or valvular disease. Genetic screening for BMPR2, CAV1, KCNK3, EIF2AK4, ALK1, ENG, and SMAD9 genes was conducted to assess hereditary predisposition, underscoring the forward-looking approach to management. This suggests that early genetic evaluation, alongside conventional imaging and hemodynamic studies, is pivotal in refining prognosis and guiding treatment. Therapeutic intervention included sildenafil citrate, bosentan, digoxin, and frusemide, with advisement for possible heart or lung transplantation. The case stands as a reminder that timely recognition and a layered strategy blending pharmacotherapy, genetic insight, and surgical foresight-can meaningfully influence outcomes in complex cardiopulmonary disorders.

Keywords: primary pulmonary hypertension, genetic evaluation, right heart dysfunction, clinical case study, targeted therapy

How to Cite?: Dr. Arulanandhan Ettiyan, "Comprehensive Case Analysis of Primary Pulmonary Hypertension in a Middle-Aged Male: Clinical Evaluation, Genetic Screening, and Management Strategy", Volume 14 Issue 8, August 2025, International Journal of Science and Research (IJSR), Pages: 722-723, https://www.ijsr.net/getabstract.php?paperid=SR25812231942, DOI: https://dx.doi.org/10.21275/SR25812231942