Table 2: Cardiovascular phenotype distribution

of the 794 patients with rare genetic cardiovascular

in the outpatient clinic.

Cardiovascular phenotype

n (%)

Arrhythmic and conduction disorders

Primary electrical diseases

117 (90.0)

Preexcitation syndrome

5 (3.9)

Atrioventricular block

3 (2.3)

Other cardiac arrhythmias*

3 (2.3)

Atrial fibrillation and flutter

2 (1.5)

Cardiac tumor disorders

Cardiac rhabdomyoma

6 (85.7)

Cardiac myxoma

1 (14.3)

Cardiomyopathies

Left ventricular noncompaction

29 (32.6)

Dilated cardiomyopathy

27 (30.3)

Arrhythmogenic right ventricular cardiomyopathy

16 (18.0)

Hypertrophic cardiomyopathy

15 (16.9)

Restrictive cardiomyopathy

2 (2.2)

Congenital heart diseases

R-sided and L-sided obstructive lesions‡

161 (47.8)

Septal defects§

67 (19.9)

Conotruncal heart defects

45 (13.3)

Valvular heart diseases||

38 (11.3)

Other congenital heart diseases**

16 (4.7)

Heterotaxy

10 (3.0)

Vascular disorders

Thoracic aortic aneurysm and dissection

211 (97.7)

Arteriovenous malformation

3 (1.4)

Varicose veins

2 (0.9)

Other cardiovascular disorders

Primary pulmonary hypertension

6 (40.0)

Cardiac dysautonomia

5 (33.3)

Ischemic heart disease

2 (13.3)

Pericardial effusion

1 (6.7)

Ventricular dysfunction

1 (6.7)

* Sinus node disease, supraventricular tachycardia, and ventricular premature depolarization.

‡ Right-sided obstructive lesions (pulmonary stenosis, stenosis of the pulmonary arteries, and pulmonary atresia with intact ventricular septum) and left-sided obstructive lesions (aortic stenosis, bicuspid aortic valve, coarctation of the aorta, supravalvular aortic stenosis, hypoplastic left heart syndrome, mitral stenosis, and mitral double outlet).

§ Atrial septal defects, ventricular septal defects and atrio ventricular septal defects (with or without minor abnormalities).

Tetralogy of Fallot, pulmonary atresia with ventricular septal defects, double outlet of the left ventricle, pentalogy of Fallot, pulmonary valve agenesis, truncus arteriosus, transposition of great arteries, and interrupted aortic arch.

|| Mitral prolapse valve, pulmonary, and tricuspid, aortic and mitral insufficiency.

** Total and partial anomalous pulmonary venous return, Epstein’s anomaly, vascular ring, patent arterial duct, persistent left superior vena cava, and anomalous pulmonary venous drainage.