A 6-week-old girl with weak cry and cardiac murmur

CASE PRESENTATION

A 6-week-old girl presented to the paediatrician’s office with an increasingly ‘weak’ cry. The child’s father noted that her crying could not be heard. She was exclusively breastfed but was fussy and had slow weight gain. She was born after an unremarkable 39 weeks gestation pregnancy, which included both a normal integrated prenatal screen and anatomical ultrasound scan. Her birth weight was 3.08 kg and Apgar scores were 9 at 1 minute and 9 at 5 minutes.

Physical examination revealed poor weight gain (weight 3.68 kg), tachycardia (heart rate 142 beats/minute), tachypnea (respiratory rate 63 breaths/minute), blood pressure 86 mmHg systolic by palpation and hepatomegaly (3 cm below the right costal margin). There were good peripheral pulses with capillary refill less than 2 seconds. On auscultation, the heart sounds were normal with a harsh 3/6 pansystolic murmur heard at the left lower sternal border, which radiated to the cardiac apex.

Investigations showed cardiac enlargement and pulmonary plethora on the chest radiograph. The electrocardiogram revealed sinus rhythm and right ventricular hypertrophy. A large 6 mm muscular ventricular septal defect (VSD) below the moderator band with extension to the apex was identified on the echocardiogram (Figure 1). Further evaluation confirmed the diagnosis.

Figure 1.

Subcostal view on echocardiogram. VSD Ventricular septal defect.

CASE DIAGNOSIS: VOCAL CORD PARESIS WITH CONGESTIVE HEART FAILURE

Laryngoscopy confirmed left vocal cord paresis. Video-fluoroscopic feeding study demonstrated aspiration risk with multiple episodes of laryngeal penetration with thin liquid. However, there was no aspiration with thick liquid. Medical management with diuretics and calorie supplementation was successful while the VSD spontaneously closed over the course of several months. A multidisciplinary team approach including a paediatrician, cardiologist, otolaryngologist, radiologist, occupational therapist and dietitian provided successful cardiac failure treatment, infant feeding and aspiration prevention. The vocal cord paresis and weak cry resolved with treatment of cardiac failure.

Congenital heart disease incidence is reported between 4 and 10/1000 live births. The clinical presentation of congestive cardiac failure from left-to-right shunting includes irritability, tachypnea, diaphoresis with feeding and poor weight gain. Muscular VSDs are usually small and close spontaneously. Large defects can present with congestive cardiac failure (1). Their overall prognosis is good with optimal medical management and appropriately timed surgical intervention. Multiple muscular VSDs, also known as Swiss cheese ventricular septum, are significantly more complex. The association of cardiac and noncardiac defects, such as chromosomal abnormalities and syndromes have a more variable prognosis (1).

We describe an unusual presentation of an infant with a weak cry from paresis of the left vocal cord and compression of left recurrent laryngeal nerve as it courses between the left pulmonary artery and aorta at the ligamentum arteriosum. The left recurrent laryngeal nerve is more often involved than the right due to a long course and extension into the mediastinum.

In adults, Ortner’s (cardio-vocal) syndrome described hoarseness with mitral valve stenosis and left atrial enlargement. The syndrome has been described in association with pulmonary hypertension, aortic aneurysm and chronic obstructive pulmonary disease (2). In infancy, the most common cause of vocal cord paralysis is associated with cardiothoracic surgery near the aortic arch (3). Other rare causes are central nervous system pathology, congenital myasthenic syndrome and acquired posterior glottis stenosis (Table 1).

Table 1.

Differential diagnosis for vocal cord paralysis in infancy

Congenital	Acquired
Central Nervous System Pathology (Chiari malformation, intraventricular hemorrhage, other)	Iatrogenic (patent ductus arteriosus ligation, cervical or cardiothoracic surgery, traumatic delivery)
Congenital Myasthenic syndrome	Arytenoid dislocation
Familial inheritance	Posterior glottis stenosis
Infectious
Congenital heart disease with cardiomegaly

Adapted from ref. 4.

The sequelae of unilateral vocal cord paresis include presentation with stridor, weak cry, aspiration and feeding and swallowing difficulties. Asymptomatic infants may present in later childhood with the inability to sing or a weak voice.

CLINICAL PEARLS

• Muscular VSDs are usually small and close spontaneously. Large defects can present with congestive cardiac failure. Their overall prognosis is good with optimal medical management and appropriately timed surgical intervention. However, multiple muscular VSDs and associated cardiac and noncardiac defects have a more variable prognosis.

• Cardiac enlargement from failure can lead to left recurrent laryngeal nerve compression and vocal cord paresis with hoarseness, weak cry, swallowing difficulty and aspiration risk.

• Paediatrician-led multidisciplinary team approach to cardiac failure management and potential complications can optimize outcome.

Funding sources: There are no financial relationships relevant to this article to disclose from all identified authors.

Conflict of Interest

There are no conflicts of interest or financial relationships relevant to this article to disclose from all identified authors.