We describe a 49-year-old male patient, with no particular personal or family history, admitted to the cardiology department for acute rest dyspnea with ongoing palpitations. On admission, the patient was conscious 15/15, apyretic, normotensive to 124/91 and normocardial to 84 bpm, with a saturation of 96% on free air.

Physical examination found some clinical heart failure signs such as bilateral, symmetrical, soft edema of the lower limbs, taking the bucket at pressure and reaching mid-leg, there was also turgidity of the jugular veins with slight abdominal distention, indicating ascites. All these signs of right heart failure were associated with bilateral crepitating rales at the bases when auscultating the lung fields.

Cardiac auscultation revealed a systolic murmur localized at the pulmonary focus (upper left of the sternum) and a doubling of the second heart sound (B2), testifying to increased flow through the pulmonary valve.

Clinical examination also revealed a triphalangeal (Fig. 1) left thumb (red arrow), with the thumbs unable to oppose to other fingers, and a prono-supination defect affecting both forearms (Fig. 2).

Photo of the patient's hands showing triphalangeal left thumb (red arrow)

Photo showing the lack of prono-supination in the two forearms

In view of this clinical anomaly, X-rays of both hands were taken (Fig. 3), confirming the triphalangeal left thumb (red arrow).

Hand X-rays confirming a triphalangeal left thumb (rogue arrow)

The ECG (Fig. 4) of our patient on admission showed an atypical 3/1 conduction atrial flutter at 84 bpm with ventricular extrasystoles.

Patient's ECG showing atypical flutter

Transthoracic echocardiography (Fig. 5) revealed a left ventricle dilated to 33 mm/m2, with global hypokinesis, some trabeculations and an LVEF calculated at 40% by Simpson biplane. There was also an 18-mm ostium secondum interatrial communication and a left–right shunt (red arrows). The right cavities were extremely dilated, with a spider-webbed right ventricle, in longitudinal systolic dysfunction (TAPSE = 10 mm). The inferior vena cava was dilated to 26 mm and non-compliant, with pulmonary pressures estimated at 52 mmHg, in addition to minimal pericardial effusion. There was no significant mitroaortic valve disease, and the aorta was of normal caliber in the explored segments.

Transthoracic echocardiography showing interatrial communication ostium secondum (red arrows)

In view of these anatomical anomalies and the presence of a spinal deformity, we ordered a thoracic X-ray, which showed scoliosis, and then supplemented this with a spinal CT scan with reconstruction (Fig. 6), confirming dorsolumbar scoliosis.

Spinal scan reconstruction confirming dorsolumbar scoliosis

An abdominal ultrasound was performed to look for associated visceral malformations but came back with no abnormalities.

A genetic consultation was requested, and a genetic study was carried out, which revealed a mutation in the TBX5 gene, confirming Holt–Oram syndrome. Given that this syndrome is inherited in an autosomal dominant fashion, we carried out a family survey in search of similar cases, which proved negative.

Therapeutically, our patient was started on Furosemide injection for decongestion, in addition to potassium supplementation to prevent hypokalemia, with the addition of Ramipril 5 mg/day, Spironolactone 50 mg/day, followed by Bisoprolol 5 mg/day as a beta-blocker after decongestion and Dapagliflozin 10 mg/day. The evolution was marked by the patient's decongestion under intravenous diuretic treatment and then switch to oral treatment, slowing of the flutter under beta-blocker, and clear regression of dyspnea and palpitations under medical treatment.

For the LV dysfunction, a coronary angiography was carried out, revealing a normal, healthy coronary artery free of any significant lesion. In order to identify the cause of this LV dysfunction, a cardiac MRI was requested, but the patient did not have the means to have it done, given the unavailability of this technique in our public hospital.

For his scoliosis, the patient was referred to orthopedic surgery for specialized management. The patient was assessed by orthopedic surgeons, the decision was to schedule surgery for his scoliosis after stabilization of his heart condition and optimization of his heart failure treatment, a surgery that he refused.

As for his ASD, the patient refused all invasive procedures, whether right heart catheterization or percutaneous closure, and choose to stay under medical treatment alone.

The patient was then followed up in consultation for 6 months, once a week for the 1st month, twice a month for 2 months and then once every month for 3 months and until now, without any decompensation episode or rehospitalization, and with a clear improvement in quality of life on medical treatment alone, since he refused every other invasive therapy, neither for the ASD nor for the scoliosis.