Pulmonary arterial hypertension (PAH) has a varied way of presentations, the most
common of which is dyspnea that is initially exertional. Hoarseness of voice as initial
and sole presenting feature of a patient of PAH is very rare and until now not reported
widely. Patients with idiopathic PAH usually present with nonspecific complaints of
fatigue, weakness, breathlessness, or chest pain. Rarely, these patients may present
with hoarseness of voice as their initial complaint. This condition is described as
Ortner's syndrome or the cardiovocal syndrome. It occurs due to the anatomical disadvantage
that the left recurrent laryngeal nerve (RLN) has, by lying between the pulmonary
artery and aorta, predisposing it to stretch or trapping upon enlargement of these
structures. We are presenting a case of a 23-year-old female with hoarseness of voice
as the initial presentation of idiopathic PAH due to compression of the left RLN between
the enlarged pulmonary artery and aorta. This case highlights the fact that PAH should
be kept in the differential diagnosis of hoarseness of voice, even in the absence
of the usual signs and symptoms characteristic of the disease.
A 23-year-old homemaker presented to us with hoarseness of voice for 2 months. There
were no other respiratory complaints, no history of upper respiratory tract infection,
smoking, vocal abuse, trauma, or any previous surgery.
General physical examination was not significant. Bilateral vesicular breath sounds
were heard over the chest. On cardiovascular system examination, right parasternal
heave was present, and a pan-systolic murmur was heard at the tricuspid area.
The routine blood investigations, including blood counts, liver, and kidney functions
were within normal limits. Chest radiograph [Figure 1] was suggestive of cardiomegaly
with prominent pulmonary conus. The electrocardiograph showed right axis deviation,
right ventricular hypertrophy, and poor progression of R waves. This was followed
by a two-dimensional echocardiography, which revealed dilatation of the right atria
and ventricle, right ventricular wall motion abnormality with severe PAH (mean pulmonary
artery pressure (PAP) ~50 mmHg, pulmonary artery systolic pressure = 74 mmHg and tricuspid
regurgitant jet velocity = 4.0 m/s. There was no evidence of atrial septal defect
on contrast study.
Chest radiograph suggestive of cardiomegaly
To search for a cause for pulmonary hypertension (PH), a computed tomography (CT)
thorax [Figure 2] was performed which showed no lung parenchymal abnormality and dilated
pulmonary trunk. Ultrasonography of abdomen was normal. Blood investigations for human
immunodeficiency virus (HIV), thyroid profile, and extractable nuclear antigen (ENA)
for connective tissue disorders were also within normal limits.
Computed tomography thorax revealing normal lung parenchyma
Hence, the patient was diagnosed to have idiopathic PAH, and the hoarseness of voice
was explained by Ortner's syndrome.
Baseline functional status was established by the 6 min walk test. Walk distance was
322 m, and the patient did not desaturate during the test. She was started on tadalafil
40 mg once daily with potassium-sparing loop diuretics. She is in monthly follow-up
at our institute, and there has been an improvement in voice.
PH is defined as an increase in mean PAP ≥25 mmHg at rest as assessed by the right
heart catheterization. PAH (Group 1 PH) includes heterogenous conditions that have
similar clinical, hemodynamic profiles, and pathological changes. According to the
Dana Point (2008) classification of PH, PAH includes idiopathic PAH, heritable,
drug-induced, and associated with PAH groups.
PAH is a rare disease. Although worldwide prevalence rates are not known, overall
prevalence in European countries has been reported as 15–50 cases per million population.
PAH usually presents with easy fatigability, dyspnea, chest pain, or syncope. Hoarseness
of voice is rare in patients with PAH. The left RLN passes under the arch of the aorta
to reach the larynx. This anatomical location puts it at the disadvantage of being
compressed by enlargement of the nearby cardiac chambers or great vessels. Left RLN
palsy due to the cardiac cause is known as Ortner's syndrome or the cardio-vocal syndrome.
The common causes are left atrial enlargement, usually secondary to mitral stenosis,
or thoracic aortic aneurysm. In rare cases of PAH, there is trapping of the left RLN
between the aorta and the dilated left pulmonary artery, leading to Ortner's syndrome.[5
The diagnosis of PH in our case was established by chest radiography, electrocardiography,
and echocardiography. Further investigations were performed to rule out known causes
of PH, such as CT thorax for class 3 (secondary to lung diseases), contrast echo for
congenital valvular heart diseases, ultrasonogram of the abdomen for portal hypertension,
ENA profile for connective tissue disorders such as scleroderma, HIV testing, and
fasting thyroid profile. After ruling out known causes of PH, we reached to the diagnosis
of idiopathic PAH. The patient was started on vasodilator and diuretic treatment and
is doing well since then.
Like every other disease in medical science, PAH can also present in varied ways.
Other than the tell-tale signs and symptoms of the disease, hoarseness of voice as
a symptom should be kept in mind as it could be the initial manifestation, as in this
case. Treatment of idiopathic PAH is feasible nowadays, and good response can be expected
if diagnosed early and managed properly.
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Conflicts of interest
There are no conflicts of interest.