Death from supine asphyxia in late onset pompe disease: Two patients

Hypercapnic respiratory failure, also known as Type 2 or ventilatory respiratory failure, is a severe condition characterized by the body's inability to effectively remove carbon dioxide (CO2) from the bloodstream. It leads to an arterial CO2 pressure (PaCO2) exceeding 45 mmHg and a blood pH above 7.35. This situation indicates that the body's ventilatory demand, or the ventilation needed to maintain normal PaCO2 levels, surpasses its supply or the maximum gas flow achievable without...

Respiratory failure can manifest suddenly or gradually, characterized by a rapid decline in PaO2 and a rapid rise in PaCO2. This situation indicates a severe respiratory problem that may quickly become a life-threatening emergency. One of the early signs of hypoxemic Acute Respiratory Failure (ARF) is a change in mental status due to the brain's sensitivity to oxygen levels and changes in acid-base balance. Symptoms such as restlessness, confusion, and agitation suggest inadequate oxygen...

A pneumothorax is a condition where air builds up in the space between the lung and the chest wall, causing the lung to collapse. This condition arises when air enters the space between the parietal and visceral pleura, disrupting the negative pressure essential for lung inflation. This can lead to a partial or complete collapse of the lung.
Pneumothorax can be even further classified as spontaneous, traumatic, and tension pneumothorax.

Pulmonary embolism (PE) occurs when a thrombus, fat or air embolus, amniotic fluid, or tumor tissue blocks one or more pulmonary arteries. These blockages originate in the venous system or the right side of the heart.EtiologyPE primarily arises from deep vein thrombosis (DVT) and other hypercoagulable states, such as inherited thrombophilias. Additional etiological factors include venous stasis, commonly seen in obesity, and endothelial injury from surgery and trauma. Less common causes include...

Type I Respiratory Failure, or hypoxemic respiratory failure, occurs when the partial pressure of oxygen (PaO2) in arterial blood falls below 60 mmHg while breathing room air without a corresponding increase in arterial carbon dioxide levels (PaCO2). This condition highlights a significant impairment in the lungs' capacity to oxygenate the blood.
The underlying physiological abnormalities that contribute to hypoxemic respiratory failure include:

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...