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Cyanotic congenital heart defects

Last updated: December 16, 2020

Summarytoggle arrow icon

Cyanotic heart defects (CHDs) are congenital cardiac malformations that commonly affect the atrial walls, e.g., the right atrium (RA) or left atrium (LA); ventricular walls, e.g., the left ventricle (LV) or right ventricle (RV); heart valves; or large blood vessels. Common causes include genetic defects (e.g., DiGeorge syndrome), maternal conditions (e.g., diabetes), and spontaneous genetic mutations. Pathophysiologically, cyanotic heart defects are characterized by a right-to-left shunt, which leads to deoxygenated blood entering the systemic circulation. The resulting hypoxemia manifests clinically as cyanosis, which may occur as acute, life-threatening episodes. Other symptoms include failure to thrive, characteristic heart murmurs, and symptoms of heart failure. Diagnosis is confirmed through visualization of the defect on echocardiography. Further diagnostic findings include low oxygen saturation and characteristic x-ray findings. Heart defects requiring treatment are repaired via catheter procedures or surgery. Supportive medical therapy is required in patients with heart failure (e.g., diuretics, inotropic agents) or if surgery cannot be performed (e.g., prostaglandin). If untreated, most cyanotic heart defects are fatal within the first year of life.

General pathophysiological processes

General clinical features

In approximately 50% of infants with CHDs, a routine newborn physical examination reveals no abnormalities. A normal physical examination does not rule out CHD. [3][4]

General treatment considerations [5]

The “5 Ts” of cyanotic CHDs: Tetralogy of Fallot, Transposition of the great vessels, Tricuspid valve anomalies, Total anomalous pulmonary venous return, and persistent Truncus arteriosus

Overview [10]

RVOTO: Right ventricular hypertrophy, Ventricular septal defect, Overriding aorta are the characteristics of Tetralogy of FallOt.

Epidemiology

Etiology

Pathophysiology

  • During fetal development, anterior and superior deviation of the infundibular septum misaligned VSD with overriding aortic root and subsequent RVOTO
  • Physiologic blood flow is determined by the severity of RVOTO.
    • A large VSD equal pressures in the right and left ventricles → blood flow along the path of least resistance
    • Severe RVOTO flow from RV to LV → desaturated blood entering the circulation via the aorta

Clinical findings

In patients with TOF, the auscultated murmur is determined by the amount of blood flow across the RVOTO. Therefore, during tet spells, the murmur may disappear.

Diagnostics

Treatment [5][29]

Prognosis

  • Without surgery, ∼ 50% of patients do not live past the first three years of life. [35]
  • With corrective surgery, over 90% of patients live to > 25 years of age. [36]

Overview

Epidemiology

Etiology

Pathophysiology [40]

Clinical findings

Diagnostics [5]

Treatment [42]

  • Initial postnatal management: Initiate mixing between the two parallel circulations to ensure adequate systemic oxygenation.
    • Infusion of PGE1 to prevent closure of the PDA [43]
    • Balloon atrial septostomy [44][45]
  • Surgical repair: recommended within the first two weeks of life [47][48]
    • Arterial switch procedure: reversal of the aorta and pulmonary artery with insertion into the anatomically correct ventricle as well as correction of coronary artery supply [49][50]
    • Rastelli procedure [51][52]
      • Indication: TGV with concurrent large VSD and LVOTO repair
      • Procedure: creation of a conduit from the LVOTO through the VSD to the aorta and creation of a conduit from the RV to the pulmonary artery

Prognosis

  • Without treatment, 90% of patients with TGA die within the first year of life. [53]
  • Long-term survival beyond 15–20 years of age is ∼ 90%. [49]

Overview

Epidemiology

Pathophysiology

  • Tricuspid atresia is accompanied by RV hypoplasia and RA dilation due to volume overload (univentricular heart).
  • Circulation depends on the presence of interatrial and interventricular communications.
    • Blood in the RA flows through the ASD into the LA → venous blood mixes with arterial blood in the left heart cyanosis
    • Blood can only reach the RV and pulmonary system via a VSD.

Clinical features

Diagnostics

Treatment

Prognosis

  • With surgery, ∼ 90% of patients live to the age of one year and the 10-year survival rate is ∼ 80%. [54]

Overview

Epidemiology

Etiology

  • Multifactorial (most cases are sporadic) [60]
  • Associated with prenatal lithium exposure [61][62]
  • Isolated genetic defects (e.g., MYH7 which encodes β-myosin heavy chain)

Pathophysiology [57]

Clinical findings [57]

Diagnostics

Treatment

Prognosis

  • Varies according to the severity of disease
  • Around 30% of patients die within the first year of life. [63]

Overview

Epidemiology

Etiology

Pathophysiology

The severity of symptoms and clinical presentation is determined by the following factors:

  • Venous mixing: oxygenated pulmonary venous return mixes with the systemic venous system → right-to-left shunting of partially oxygenated blood via an interatrial connection (e.g., ASD, PFO, rarely PDA) into the systemic arterial circulation → cyanosis
  • Pulmonary venous obstruction: obstruction of pulmonary venous return → ↑ pulmonary venous pressure → pulmonary edema PVR RVH, ventricular dilation, and heart failure

Clinical features [70]

Diagnostics

Treatment

  • Initial postnatal management: stabilization of cardiorespiratory status until surgery is performed (e.g., mechanical ventilation, supplemental O2, inotropes)
  • Surgical repair: recommended in all patients regardless of the severity of disease [72]

Prognosis

  • With surgical correction, the long-term survival rate is 80–90%. [73]
  • Without treatment, ∼ 80% of patients die within the first year of life. [74]

Overview

Epidemiology

Etiology

Pathophysiology

Clinical features

Diagnostics

Treatment

  • Initial medical management: stabilization of cardiopulmonary function (e.g., diuretics, dopamine, ventilation, correction of metabolic acidosis) [7]
  • Surgical repair: Surgical correction is recommended in the neonatal period. [81][82]

Prognosis

  • With surgical repair, the 30-year survival rate is ∼ 70%. [83]

Overview

Epidemiology

  • Extremely rare (2–3/10,000 live births in the US [14][85]
  • Sex: > (1.5:1) [86]
  • Although rare, HLHS is responsible for 25–40% of all neonatal cardiac deaths. [87]

Etiology

Pathophysiology

Clinical findings

Diagnostics

Treatment

  • Initial medical management: continuous infusion of PGE1 prior to heart surgery [94]
  • Surgical repair: Palliative surgery is used in single-ventricular cardiopathologies. [86]
    • Three-step staged surgical correction
      • Norwood procedure (stage I): performed while the patient is a neonate [95][96]
      • Glenn procedure (stage II): performed at ∼ 3–6 months of age [97]
      • Fontan procedure (stage III): performed after 2–3 years of age [98]
    • Alternative: heart transplant [99]

Prognosis

  • Even with surgical correction, the 5-year survival rate remains low (∼ 65%). [95]
  • For patients that survive to one year of age, long-term survival (up to 18 years of age) is ∼ 90%. [100][101]
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