Pulmonary Hypertension
Answer: D
This woman represents a common dilemma for emergency physicians: the seemingly well patient with multiple chronic complaints (at times purportedly unrelated and/or vague) and poor access to care. Our priorities should remain in identifying and treating life-threatening emergencies; however, in an ever more complex and stressed health care system, the emergency physician may be the patient’s only advocate. The balance between conservative and reasonable emergency investigation will vary among patient populations and institutional practices.
This woman’s differential diagnosis is broad. However, her constellation of signs and symptoms suggest an important but often under-diagnosed condition: pulmonary hypertension. Due to the vague nature of initial symptoms, the mean time to diagnosis is two years. Early detection and treatment are essential, as later diagnoses preclude the effectiveness of treatment and are associated with dramatically accelerated mortality.
Pulmonary hypertension recently has been re-classified by the World Health Organization (WHO) into five groups. For our purposes, we can categorize patients as having Pulmonary Arterial Hypertension (WHO Group 1) and Pulmonary Hypertension (WHO Groups 2-5).
Pulmonary Arterial Hypertension (PAH) causes progressive right-sided heart failure due to vasoconstriction of the pulmonary arteries. PAH may be idiopathic, inherited, or due to connective tissue disease, parasitic or HIV infections, congenital heart disease, or drugs such as amphetamines, cocaine, or chemotherapeutic agents.
Pulmonary Hypertension (PH) is secondary to various mechanisms such as: left-sided heart failure as in systolic, diastolic, or valvular disease (Group 2); chronic hypoxia such as in COPD or OSA (Group 3), thromboembolic disease such as pulmonary embolism (Group 4); or unclear mechanisms such as sarcoidosis or metabolic disease (Group 5).
This woman has signs and symptoms of right-sided heart failure without overt evidence of left-sided heart failure.
This atypical presentation of heart failure, in conjunction with a history of a murmur that is now not present, raises the possibility of a ventricular septal defect (VSD). A VSD presents with varying degrees of size of lesion and severity of sequelae. The associated murmur is crescendo-decrescendo and holosystolic, due to left-to-right shunting of blood through the defect. Right ventricular hypertrophy develops, and later right and left pressures equalize, extinguishing the murmur. Small VSD murmurs may disappear due to spontaneous closure (up to 80%); if this has not occurred by age 10, surgery is often needed. In this woman with a life-long history of a murmur – now disappeared – with worrisome symptoms, we must consider decompensating disease.
An echocardiogram is essential in the screening for PAH/PH (often together called simply PH). It is important to note that ECG, chest radiograph, and echocardiography are not ideal tests for PH. In the patient with more than low suspicion for PH, right-heart catheterization is integral to the diagnosis and treatment plan.
Treatment is most effective when begun early in the disease course. Optimization of the underlying disorder is important. For all types of PH, therapies include diuretics, anticoagulation, oxygen, digoxin, and physical therapy. Sub-groups may respond to advanced therapy: prostacyclin-related compounds such as epoprostenol (Flolan), phosphodiesterase inhibitors such as sildenafil (Viagra), endothelial receptor antagonists such as bosentan (Tracleer), atrial septostomy (with the palliative intention to re-create a right-to-left shunt), or heart-lung transplant.
In patients with known PH, close communication with the patient’s PH specialist is important, as many have a closely tailored approach to treatment when optimized and a plan for decompensation. For patients who present in critical condition, typical resuscitation measures for cardiogenic shock should be followed (control of airway, vasopressors, dobutamine, with the possible addition of a phosphodiesterase inhibitor). Treat dysrhythmias and pericardial effusion accordingly. Patients with PH may arrive to the ED on a continuous infusion pump of medication such as epoprostenol (Flolan) – this drug is their life support, and should not be disconnected.
Although many of her vague and chronic signs and symptoms may be related to her non-emergent issues (C), these would be diagnoses of exclusion.
Starting her on a diuretic (B) may not be a bad choice, but it does not account for her atypical presentation and may contribute to anchoring bias and delay the diagnostic process.
Thyroid function tests may be done in the course of a non-emergent workup (A). However, delay in diagnosis of possible hypothyroidism in a non-altered, hemodynamically stable patient is unlikely to affect her prognosis, and results would not affect disposition or emergent intervention. Although her coarse voice may be attributed to hypothyroidism, given the context she most likely is suffering from Örtner’s syndrome – “cardiovocal syndrome” – hoarseness of voice caused by pressure on the recurrent laryngeal nerve due to cardiothoracic disorders such as pulmonary hypertension, aortic aneurysm, post-surgical changes, mediastinal masses, etc.
References
ACCF/AHA 2009 Expert Consensus Document on Pulmonary Hypertension: A Report of the American College of Cardiology Foundation Task Force on Expert Consensus Documents and the American Heart Association. Circulation. 2009;119:2250-2294.
Task Force for Diagnosis and Treatment of Pulmonary Hypertension of European Society of Cardiology (ESC), European Respiratory Society (ERS), International Society of Heart and Lung Transplantation (ISHLT), et al. Guidelines for the diagnosis and treatment of pulmonary hypertension. Eur Respir J. 2009; 34:1219.
This woman represents a common dilemma for emergency physicians: the seemingly well patient with multiple chronic complaints (at times purportedly unrelated and/or vague) and poor access to care. Our priorities should remain in identifying and treating life-threatening emergencies; however, in an ever more complex and stressed health care system, the emergency physician may be the patient’s only advocate. The balance between conservative and reasonable emergency investigation will vary among patient populations and institutional practices.
This woman’s differential diagnosis is broad. However, her constellation of signs and symptoms suggest an important but often under-diagnosed condition: pulmonary hypertension. Due to the vague nature of initial symptoms, the mean time to diagnosis is two years. Early detection and treatment are essential, as later diagnoses preclude the effectiveness of treatment and are associated with dramatically accelerated mortality.
Pulmonary hypertension recently has been re-classified by the World Health Organization (WHO) into five groups. For our purposes, we can categorize patients as having Pulmonary Arterial Hypertension (WHO Group 1) and Pulmonary Hypertension (WHO Groups 2-5).
Pulmonary Arterial Hypertension (PAH) causes progressive right-sided heart failure due to vasoconstriction of the pulmonary arteries. PAH may be idiopathic, inherited, or due to connective tissue disease, parasitic or HIV infections, congenital heart disease, or drugs such as amphetamines, cocaine, or chemotherapeutic agents.
Pulmonary Hypertension (PH) is secondary to various mechanisms such as: left-sided heart failure as in systolic, diastolic, or valvular disease (Group 2); chronic hypoxia such as in COPD or OSA (Group 3), thromboembolic disease such as pulmonary embolism (Group 4); or unclear mechanisms such as sarcoidosis or metabolic disease (Group 5).
This woman has signs and symptoms of right-sided heart failure without overt evidence of left-sided heart failure.
This atypical presentation of heart failure, in conjunction with a history of a murmur that is now not present, raises the possibility of a ventricular septal defect (VSD). A VSD presents with varying degrees of size of lesion and severity of sequelae. The associated murmur is crescendo-decrescendo and holosystolic, due to left-to-right shunting of blood through the defect. Right ventricular hypertrophy develops, and later right and left pressures equalize, extinguishing the murmur. Small VSD murmurs may disappear due to spontaneous closure (up to 80%); if this has not occurred by age 10, surgery is often needed. In this woman with a life-long history of a murmur – now disappeared – with worrisome symptoms, we must consider decompensating disease.
An echocardiogram is essential in the screening for PAH/PH (often together called simply PH). It is important to note that ECG, chest radiograph, and echocardiography are not ideal tests for PH. In the patient with more than low suspicion for PH, right-heart catheterization is integral to the diagnosis and treatment plan.
Treatment is most effective when begun early in the disease course. Optimization of the underlying disorder is important. For all types of PH, therapies include diuretics, anticoagulation, oxygen, digoxin, and physical therapy. Sub-groups may respond to advanced therapy: prostacyclin-related compounds such as epoprostenol (Flolan), phosphodiesterase inhibitors such as sildenafil (Viagra), endothelial receptor antagonists such as bosentan (Tracleer), atrial septostomy (with the palliative intention to re-create a right-to-left shunt), or heart-lung transplant.
In patients with known PH, close communication with the patient’s PH specialist is important, as many have a closely tailored approach to treatment when optimized and a plan for decompensation. For patients who present in critical condition, typical resuscitation measures for cardiogenic shock should be followed (control of airway, vasopressors, dobutamine, with the possible addition of a phosphodiesterase inhibitor). Treat dysrhythmias and pericardial effusion accordingly. Patients with PH may arrive to the ED on a continuous infusion pump of medication such as epoprostenol (Flolan) – this drug is their life support, and should not be disconnected.
Although many of her vague and chronic signs and symptoms may be related to her non-emergent issues (C), these would be diagnoses of exclusion.
Starting her on a diuretic (B) may not be a bad choice, but it does not account for her atypical presentation and may contribute to anchoring bias and delay the diagnostic process.
Thyroid function tests may be done in the course of a non-emergent workup (A). However, delay in diagnosis of possible hypothyroidism in a non-altered, hemodynamically stable patient is unlikely to affect her prognosis, and results would not affect disposition or emergent intervention. Although her coarse voice may be attributed to hypothyroidism, given the context she most likely is suffering from Örtner’s syndrome – “cardiovocal syndrome” – hoarseness of voice caused by pressure on the recurrent laryngeal nerve due to cardiothoracic disorders such as pulmonary hypertension, aortic aneurysm, post-surgical changes, mediastinal masses, etc.
References
ACCF/AHA 2009 Expert Consensus Document on Pulmonary Hypertension: A Report of the American College of Cardiology Foundation Task Force on Expert Consensus Documents and the American Heart Association. Circulation. 2009;119:2250-2294.
Task Force for Diagnosis and Treatment of Pulmonary Hypertension of European Society of Cardiology (ESC), European Respiratory Society (ERS), International Society of Heart and Lung Transplantation (ISHLT), et al. Guidelines for the diagnosis and treatment of pulmonary hypertension. Eur Respir J. 2009; 34:1219.