Implementing pulmonary arterial hypertension screening among TBX4 mutation carriers: a timely endeavour

Pulmonary Function Tests (PFTs)
Pulmonary Function Tests are crucial diagnostic tools for assessing respiratory function, particularly in patients with chronic respiratory disorders. They comprehensively evaluate lung volumes, ventilatory function, breathing mechanics, diffusion, and gas exchange. These tests help diagnose pulmonary diseases and play a significant role in monitoring disease progression, evaluating disability, and assessing response to therapy.
PFTs involve using a spirometer, a...

Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...

Receptor tyrosine kinase inhibitors (TKIs) and calcium channel blockers (CCBs) are two critical categories of drugs employed in the treatment of pulmonary artery hypertension (PAH). PAH is a disease that causes high blood pressure in the pulmonary arteries, resulting in chest pain, fatigue, and shortness of breath.
TKIs, such as imatinib (Gleevec), are particularly effective in tackling the growth and mitogenic factors that become upregulated in PAH patients. These factors contribute to the...

Accurate blood pressure assessment is crucial for diagnosing and managing various health conditions. To ensure the reliability of these measurements, healthcare professionals must adhere to standardized pre-procedural guidelines. These guidelines enhance patient safety and improve the overall quality of healthcare. The following steps are essential for obtaining accurate and consistent blood pressure readings, from using the appropriate tools to ensuring effective communication with the...

Endothelins (ETs) are potent vasoactive peptides critical in the human body's various physiological and pathological processes. One of the most promising therapeutic strategies for treating pulmonary arterial hypertension (PAH) involves counteracting the effects of these endothelins using a class of drugs known as endothelin receptor antagonists.
ETs are synthesized through a complex sequence of enzymatic steps, primarily involving an enzyme referred to as endothelin-converting enzyme...

Radiological investigations are paramount in the diagnosis and management of various pulmonary diseases. Two essential investigations are the Pulmonary Angiogram and the Positron Emission Tomography (PET) Scan.
Pulmonary Angiogram
A Pulmonary Angiogram is an invasive procedure involving injecting a contrast medium through a catheter threaded into the pulmonary artery or the right side of the heart to visualize the pulmonary vasculature. Computed Tomography (CT) scans have mainly replaced this...