Table of Contents

ABSTRACT

Background: Pulmonary Hypertension is a life-threatening disease that is characterized by a progressive increase of pulmonary vascular resistance that often leads to Right Ventricle (RV) failure and death. In the last decade, major discoveries have been made in the field of hereditary pre-disposition to pulmonary arterial hypertension (PAH). At least 6% of all PAH cases are familial in origin, known as Familial Pulmonary Arterial Hypertension (FPAH) and display autosomal dominant inheritance with incomplete penetrance. While an early diagnosis is associated with improved long-term survival, at present, most patients are diagnosed at a very advanced stage of Hereditary Pulmonary Arterial Hypertension (HPAH), indicating that early screening for HPAH is crucial. In this regard, genetic testing is an effective strategy for the early diagnosis and management of PAH, specifically HPAH. We present two familial cases of PAH and in-depth analysis of diagnostic cascade to allow an earlier and more reliable diagnosis of possible HPAH.

Case Illustration: Both cases had presented with chief complaint of dyspnea. The first case was a 44-year-old man and his son. The second case was a 17-year-old boy. The daughter of case 1 or sister of the case 2 passed away at 4 years old due to PH. Both patients had been subsequently diagnosed with PAH with possible HPAH after the exclusion of other primary and secondary heart anomalies using electrocardiography, echocardiography, and cardiac marker test. Both patients subsequently were treated using right heart catheterization (RHC). Both patients had shown clinical improvements and were instructed to follow-up with their condition.

Conclusions: Possible HPAH might require genetic testing to stratify the risk and justify the degree of surveillance for possible cardiological issues. Both cases presented with advanced stage of the disease that possibly result in higher risk of complications and mortality related to PAH. Early diagnosis in HPAH may be aided with vigilance to reverse the possible structural anomalies associated with chronic PAH that had remained untreated for relatively long periods of time.

Keywords: Hereditary Pulmonary Arterial Hypertension