CASE
Careful clinic and multimodality imaging assessment are necessary to
formulate the right diagnosis and avoid harmful diagnostic delay in
congenital heart disease. In our case a woman initially referred to us
as “biventricular hypertrophic cardiomyopathy” received a final
diagnosis of double chambered right ventricle associated with
ventricular septal defect and right partial anomalous pulmonary vein
return: an extremely rare combination of congenital abnormalities
diagnosed in adulthood. A 23-year-old woman refugee from Nigeria was
admitted to a peripheral Italian hospital for dyspnea and chest pain
associated to raised troponin and she was transferred to our Intensive
Care Unit with a diagnosis of biventricular hypertrophic cardiomyopathy
(HCM). She reported no relevant past medical history, no family history
of cardiomyopathy or sudden cardiac death. She complained of chest pain
and shortness of breath from childhood and she reported several hospital
admissions in her native country but with no clear diagnosis. Physical
examination revealed nail clubbing and reduced physical development for
her age; blood pressure was 120/80 mmHg; heart rate was regular at 70
bpm and O2 saturation was 89% on air. A loud pansystolic 2-3/6 murmur
was heard at left sternal border. Blood analysis revealed haemoglobin
19.3 g/dl and hematocrit 53.1%. The 12-leads ECG showed sinus rhythm,
left and right ventricular hypertrophy and T wave abnormalities
(Fig.1A ) while chest X-ray revealed a spherically shaped heart
and abnormal cardiothoracic ratio (Fig. 1B ). Two-dimensional
echocardiography (Fig.2, Video 1 ) showed massive right
ventricle (RV) hypertrophy (15-16 mm free wall)
with anomalous muscle bundles and
severe RV outflow tract obstruction (RVOTO) assessed by the degree of
anatomic narrowing (RVOT diameter at infundibular level 5 mm) and by
Doppler interrogation of the obstructed region (maximum gradient 185
mmHg). Other echocardiographic findings were:
ventricular septum flattening, not
significant hypoplastic pulmonary valve (ring 18 mm, pulmonary artery
trunk 16-17 mm, pulmonary branches 10-12 mm), a small perimembranous
ventricular septal defect (VSD) (4-5 mm) with right-to-left shunt.
Moreover, a left ventricular outflow tract obstruction (LVOTO) with
subaortic maximum gradient of 60 mmHg was found, with concentric left
ventricular hypertrophy (LVH). Biventricular ejection fraction was
normal as well as mitral and aortic valve function; mild tricuspid
insufficiency was detected. During hospitalization the patient
experienced attacks of paroxysmal hypoxemia (similar to tetralogy of
Fallot, “cyanotic spells”) with acute fall in arterial saturation
associated with chest pain and an increase in cardiomyocyte injury
markers, likely related to sudden worsening of dynamic RVOTO. Coronary
CT Angiography (CCTA) (Fig. 3, Video 2, Video 3 ) was performed
to rule-out coronary anomalies, showing a normal origin and course of
coronary arteries, the presence of a right partial anomalous pulmonary
vein return (PAPVR) (right superior pulmonary vein draining into the
superior vena cava), and confirming a significant thickening of the RV
walls, including the RVOT. Taken together, these findings suggested the
final diagnosis of double chambered right ventricle
(DCRV)1 with associated small VSD and PAPVR.
The Heart Team discussed the clinical case with the participation of
adult and pediatric cardiologists and cardiac surgeons with an expertise
in congenital heart disease and we decided to refer the patient to a
Heart Transplant Center for evaluation between high risk surgical
correction and cardiac transplant. The referral to a Heart Transplant
center was felt necessary in case the surgery was complicated by severe
post-operative RV failure (the so-called “suicide” RV) requiring ECMO
support and urgent transplantation back-up. She was evaluated by two
experienced centers for congenital heart disease surgery and cardiac
transplantation but she was considered not suitable for surgical
correction (too high risk) nor for heart transplantation for her social
condition and poor compliance to medical care. The patient was lost to
our follow up and came back to our GUCH out-patient clinic 5 years
later. She reported of several hospital admissions for dyspnea and
angina and she had 3 miscarriages occurred within the first trimester of
pregnancy.
This case was misleading since the patient was referred to our Center
with the diagnosis of biventricular HCM. However, RV hypertrophy was
predominant compared to LVH and the latter looked worse than the actual
measured thickness (maximum LV wall thickness 11 mm) because of the
small LV cavity size, due to the ventricular interdependence and RV
overload. The reduction of LV size in systole along with ventricular
septal bulging contributed to LVOTO. The diagnosis of congenital heart
disease instead of cardiomyopathy was supported by the fact that: 1) the
primary lesion was the RVOTO, 2) the association with other congenital
abnormalities (VSD, PAPVR) 3) symptoms present since childhood, with
some relief with squatting, 4) clubbing and cyanosis, due to the
hemodynamic consequences of the RVOTO, leading to such an elevated RV
pressure that caused a right to left shunt through the VSD, rarely
observed in DCRV2,3.
Our case raises some important issues: the diagnostic delay led to an
evolution toward a condition no more suitable for corrective surgery
(prohibitive surgical risk). The patient socio-cultural condition
complicated the clinical management: despite existing legal frameworks,
practical access to care for transplantation can be extremely
complicated for refugees4 and these social issues are
also often associated with patients’ poor compliance to medical care.
Moreover, cultural barriers made very difficult to get the woman deeply
aware of the gravity of her condition and the prohibitive
pregnancy-related risks.